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�TABLE G10
CHARITY DEDUCTIONS AND BAD DEBT EXPENSES FOR SHORT-TERM
GENERAL NON-FEDERAL U.S. HOSPITALS*, 1990
(DOLLARS IN THOUSANDS)
M M C T MEMBERS
O-OH
COTH mmtKS
Acadeaic
Medical
Centers
Other
COTH
All
COTH*
Teaching
Hon
Teaching
C T as a
OH
Percent of
All Hospitals
All
Hospitals
120
167
287
706
4,209
5,202
6X
Average Deductions for
Charity Care
17,416,595
5,329,506
10,383,341
2,037,608
359,230
1,140,056
50%
Average Bad Debt Expenses
12,688,653
9,527,480
10,849,225
4,028,086
1,252,348
2,158,533
28X
295,833,892 240,620,943 263,706,497
107,978,915
32,178,137
55,239,265
26X
Number of Hospitals
Average Total Gross
Patient Revenue
Charity Care and Bad Debt (Unco^iensated Care) as a Percentage of Net Patient Revenue
NON-COTH MEMBERS
COTH MEMBERS
Acadeaic
Medical
Centers
Average Uncompensated
Care Percentage
Other
COTH
All
COTH*
Teaching
Non
Teaching
All
Hospitals
10.18X
6.17X
8.05X
5.62%
5.01%
5.97X
*
Does not include long-term care or specialty hospitals.
#
Does not include 20 COTH children's hospitals or 11 COTH specialty hospitals.
Source: AAMC Clinical Services Analysis of 1990 American Hospital Association data.
Update: 8/92
�Altruism in medicine:
Prescription for the nineties
' ewis Landsberg, M.D.
Dr. Landsberg (ASM, Yale, 1963) ii llw
Irving S. Cutter Professor and Chairman
of the. Department of Medicine, Northwestern University Medical School. This
paper is based on the author's address at
the Founder's Day ceremony at Northwestern University Medical School in
1991.
I
t is no secret that the medical profession finds itself, in this last decade of the twentieth century, beset b y n u m e r o u s p r o b l e m s not
traditionally associated w i t h medicine. Increasingly, the profession
must deal with restrictions and regulations imposed by government, by
hospitals, by insurance companies,
and by industry. We stand accused
of substantial responsibility for the
increased cost of medical care, and
for the limited access to medical care
that plagues disgracefully large segments of our society. We labor, increasingly, under the threat of litigaion and malpractice. Are we, as
physicians and biomedical scientists,
the cause of the problems that plague
the medical profession? Although
we have responsibility in all these areas, we are not, certainly, solely responsible for the current problems
facing the profession. We have, however, by our behavior, contributed to
a public disaffection from medicine,
a disaffection that underlies many of
these problems and prevents us from
taking a leadership role in their solution. In alienating large segments of
o u r society we have squandered
w h a t was once our most precious
asset: the overwhelming trust and
gratitude of the people we serve.
What has happened to alienate the
public? We are perceived as selfinterested businessmen and women
rather than dedicated physicians or
scientists. Our motives, once considered pure, are now suspect. As a profession, we have absorbed the materialistic values of our society. Wc
have permitted, even contributed to,
the commercialization of medicine, a
commercialization that I believe is at
ie root of many of our problems.
This commercialization has infected
The Pharos/Winter 1993
like a "trade" or like any other economic group, it tends to behave like
a "trade." As a consequence, physicians feel less bound by the special
obligations traditionally associated
with the profession. It is this cycle
that must be interrupted. The public
expectation is that medicine was
once, and still should be, an altruistic
profession. This is the heritage that
we must embrace.
The Oxford English Dictionary defines altruism as "regard for others,
as a principle of action; opposed to
egoism or selfishness." The word is
derived f r o m the Latin alteri huic,
meaning "to this other." Most would
agree that the practice of medicine is
an inherently altruistic undertaking.
With the possible exception of educators and clergy, no other workers
are concerned predominantly w i t h
the well-being of others. Although
lawyers, accountants, architects, or
engineers may help their respective
clients, it is safe to say that no other
professionals are so profoundly dedicated to the welfare of other individuals. The Hippocratic Oath clearly
expresses the o b l i g a t i o n s
inherent in the medical profession.
Our p r o f e s s i o n p r o c l a i m s selfconsciously its devotion to the ideal
of service to humanity.
1
both clinical practice and the academic biomedical research community. As a profession, we are all too
f r e q u e n t l y embarrassed by revelations of Medicare fraud and distasteful promotion of programs that
appear to be designed more for the
financial benefit of doctors than the
well-being of patients. If doctors
view their practices as businesses,
they should not be surprised to find
that their patients view them as businessmen and women. Biomedical
scientists have traditionally been motivated by the potential importance
of their work in understanding and
alleviating human disease. In the
eighties, however, we witnessed the
unseemly rush of scientist/entrepreneurs to benefit financially from the
potential commercial value of their
scientific discoveries. N o t i n f r e quently, respected academic institutions have embraced these arrangements for their o w n f i n a n c i a l
purposes.
This is not to imply that these activities are necessarily widespread or
commonplace; nonetheless, they bespeak a growing attitude that emphasizes personal b e n e f i t w h i l e
deemphasizing the time-honored obligations of our profession. We are
not alone in our society when we put
personal gain above the welfare of
others. We are, however, in medicine
held to a higher standard by the very
nature of our work. Although our
constituents are content to be "health
care consumers" when they are well,
they want to be " p a t i e n t s " when
they are sick.
As pointed out in the New England
journal of Medicine by Ezekiel J.
Emanuel, of the Program in Ethics
and the Professions nt Harvard University, as the profession is treated
The public, moreover, has until recently believed in the altruism of the
medical profession. The esteem and
special prerogatives traditionally accorded doctors offer compelling testimony to this perception. Physicians
have enjoyed public trust and confidence in large measure because of
the high regard attached to the uns e l f i s h b e h a v i o r i m p l i c i t i n the
doctor-patient relationship.
In this age of molecular genetics it
is only natural to consider the biological basis of altruism. Animal ethologists have examined at length the
paradox of altruistic behavior in relationship to the Darwinian concepts
of natural selection and survival of
the fittest. The argument from evolution, posed in its most simplistic
form, is that selfish traits will rise to
the top in the cauldron of natural selection. The gene that looks out for
itself will survive over the gene that
looks out for its neighbor. Superfi-
�Altruism in medicine —
dally, this argument would seem to
provide a justification for personal
selfishness in the Darwinian terms of
natural selection, and impose an insurmountable barrier to truly altruistic behavior. In fact, the current preo c c u p a t i o n w i t h the b i o l o g y of
selfishness and altruism recalls the
social Darwinism of the last century,
a philosophy that was used inappropriately to justify the class system in
Britain in the era following the Industrial Revolution.
But the question is a good one:
How do we reconcile patently altruistic behavior w i t h the Darwinian
model of survival of the fittest? The
Oxford biologist, Richard Dawkins,
in his monograph The Selfish Gene,
has s u m m a r i z e d c o m p e l l i n g evidence that the unit of evolution is the
gene and not the individual organism. Genes are inherently selfish in
that they have evolved to survive;
individual organisms are, in the metaphor of Dawkins, " s u r v i v a l machines" carefully crafted to foster the
propagation of the genes that designed them. There is, moreover, unequivocal evidence of the inheritance
of behavioral traits. The question is,
therefore, can altruistic traits enhance the survival of the organism,
and hence the perpetuation of its
genes? The short answer is yes; altruistic acts can definitely benefit an organism, despite the fact that they are
programmed by inherently selfish
genes.
2
The issue of altruism in biological
terms is reduced to a risk-benefit calculation applied to an individual behavioral trait. The survival value of
an unselfish act depends upon the
risk incurred in performing the altruistic behavior and the likelihood of
being the recipient of altruistic behavior in the future. This phenomenon has been referred to as "delayed
reciprocal a l t r u i s m " by Robert L.
Trivers and Edward O. Wilson of
Harvard University. ' Examples of
altruism abound in the animal world
and in human experience. Rescuing a
drowning stranger is the commonly
cited human example. The risk to the
altruistic rescuer may be more than
outweighed by the subsequent opportunity to be the recipient of altru3 4
10
istic behavior in the future. Although
the altruistic behavior can pose a risk
to the individual organism (for example, the rescuer drowns), the existence of a trait for similar altruistic
behavior in the majority of the population will, statistically, enhance the
aggregate long-term survival of the
members of the population. Such altruistic acts can, therefore, readily be
attributed to an inherited behavioral
tendency that exists in the gene pool
of our species, because that tendency
has perpetuated the D N A responsible for the altruistic behavior. A l though this reductionist analysis
may, in the words of Wilson, take the
"goodwill out of altruism," it does
serve to emphasize the biological basis of altruistic behavior by demons t r a t i n g h o w s e l f i s h genes that
evolved to survive can orchestrate
acts that help others. It also explains
how genes governing altruistic behavior establish a stable representation in the gene pool. Altruism as a
c u l t u r a l value, therefore, can be
taught and learned, unimpeded by
biological considerations.
How does altruism express itself
in medicine? It does so in many different ways. The needs of the patient
always come first. This is the lesson
we learn in medical school and postgraduate clinical training. We exhaust every reasonable effort in providing care for our patients. We do
this without regard to personal f i nancial gain and, occasionally, in the
face of significant personal sacrifice.
Fatigue, personal desires, attention
to our families do not stand in the
way of our professional obligations.
And we incur the risk of physical
harm. Before the advent of antibiotics, physicians regularly attended
patients with serious contagious diseases. It was not long ago in the history of medicine that streptococcal
cellulitis had a fatal outcome, to say
nothing of tuberculosis or bubonic
plague. The issue of self-risk has
arisen again in relation to the AIDS
epidemic. AIDS has served, in fact,
to focus our attention on the fundamental obligations of our profession.
The nature of this professional responsibility was aptly described by
W i l l i a m Boghurst in the year 1666
(
in his "plague memoir," quoted by
Jennifer O'Flaherty in The Pharos.
Boghurst observed, "Every man that
undertakes to be of a profession or
takes upon him any office must take
all parts of it, the good and the evil,
the pleasure and the pain, the profit
and the inconvenience altogether,
and not pick and choose; for ministers must preach, captains must
f i g h t , physicians attend upon the
sick." We take risks in the interests
of our patients; it is part of the obligation that traditionally has gone with
our special status.
5
It would be naive and simplistic to
think that the complex problems that
have enveloped the medical profession over the last two decades could
be remedied by merely altering our
collective behavior. Nonetheless, 1
strongly believe we can restore public confidence in medicine by embracing the altruistic strain in our
heritage. We can begin by personally, and as a profession, rededicating ourselves to the welfare of the
people we serve. T h i s o b j e c t i v e
should be our guiding principle, f
would exert powerful and long-term
effects on our position in society in
relation to other major groups i n volved in the health care system.
Public support is an essential first
step for the profession to reclaim the
national health care agenda.
References
1. Emanuel, CJ: Do physicians have an obligation to treat patients with AIDS? N Engl
] Med 318:1686-90, 1988.
2. Dawkins, R: The Selfish Gene. New
York, Oxford University Press, 1976.
3. Trivers, RL: The evolution of reciprocal
altruism. Q Rev Biol 46:35-57, 1971.
4. Wilson, EO. Sociobiology: The New
Synthesis. Cambridge, Massachusetts, The
Belknap Press of Harvard University Press,
1975.
5. Boghurst, W: Loimographia: An Account of the Great Plague of London in the
year 1665, Payne, JF, ed. London, Shaw &
Sons, 1894, pp. 59-60. As quoted in O'Flaherty, J: The AIDS patient: A historical perspective on the physician's obligation to
treat. Pharos 54(3) 13-16, Summer 1991.
Send reprint requests to author at:
Department of Medicine
Northwestern University Medical School
Wesley Pavilion 296
250 Cast Superior Street
Chicago. Illinois 60611
The Pharos/Winter 1993
�* mfcSEARCH VOLUME
* IfiDUCATION VOLUME
* ^COMPLEX CASE ADJUSTMENTS
THIS FUNDlWlLL PAY ONLY THE "INFRASTRUCTURE COSTS" OF
THESE THREE UNIQUE T^flKS OF ACADEMIC CENTERS; I T WILL NOT COVER:
•i
**
**
DllECT PER PERSON EDUCATION PAYMENTS FOR
RESIDENT SALARIES AND STUDENT STIPENDS FROM
THOSE PAYORS CURRENTLY PAYING THESE COSTS
**
•
DIRECT RESEARCH FUNDING WHICH WILL CONTINUE
TO BE AWARDED COMPETITIVELY
DIRECT PATIENT CARE PAYMENTS PER CAPITA FOR
EITHER REGULAR PATIENT CARE OR COMPLEX CASE
MIX PATIENT CARE TO THE EXTENT THAT I S COVERED
BY OUTLIER PAYMENTS, DISPROPORTIONATE SHARE
MEDICARE PAYMENTS, OR ANY NEW RISK ADJUSTMENT
OR CASE MIX PAYMENTS THAT WILL BE DEVISED UNDER
THE NEW HEALTH CARE SYSTEM. THESE PAYMENTS
MUST BE MADE TO ACADEMIC MEDICAL CENTERS AS THEY
WILL ARE TO ALL OTHER PROVIDERS/AHPs.
THIS FUND I S INTENDED ONLY TO INSURE THAT ACADEMIC
MEDICAL CENTERS CONTIHtJE TO RECEIVE THE INFRASTRUCTURE RESOURCES
NEEDED TO REMAIN VIABLE I N THEIR TEACHING, RESEARCH AND UNIQUE
PATIENT CARE ROLES WHICH THEY NOW ACCRUE THROUGH CROSS-SUBSIDIES
FROM PATIENT CARE INCOME TO THE HOSPITAL AND THE FACULTY. I T I S
INTENDED ONLY TO "LEVEL THE PLAYING FIELD."
THE CONCEPT OF THIS FORMULA IS SIMILAR TO THE CONCEPT
DEVELOPED I N 1964 FOR THE MEDICARE PROGRAM,
WHEN I T WAS RECOGNISED THAT THE ADDITIONAL COSTS TO ACADEMIC
HEALTH CENTERS FOR THESE SOCIETAL SERVICES PERFORMED WHILE CARING
FOR MEDICARE PATIENTS WERE NOT COMPENSATED UNDER THE PROSPECTIVE
PAYMENT DRG SYSTEM. AT THAT TIME A STUDY OF THE COST DIFFERENTIAL
WAS UNDERTAKEN ( r e f e r e n c e s ) AND NUMEROUS VARIABLES ANALYSED TO SEE
WHICH PROVED TO BE THE BEST PROXY MEASURE OF THESE ADDED COSTS. I N
THIS WAY MEDICARE SOUGHT TO PAY ITS FAIR SHARE OF THESE SOCIETAL
BENEFITS DERIVED FROM ACADEMIC HEALTH CENTERS AND PROVIDE A "LEVEL
PLAYING FIELD" FOR ACTUAL PATIENT CHARGES AND DRG PAYMENTS SO THAT
THESE WERE EQUAL ACROSS ALL PROVIDERS. THE ADDED COSTS AT ACADEMIC
HEALTH CENTERS WERE CALCULATED BY A FORMULA SIMILAR TO THE FORMULA
PROPOSED NOW UNDER HEALTH CARE REFORM, AND PAYMENT WAS HANDLED AS
A PERCENTAGE ADDED TO EACH DRG PAYMENT TO AN ACADEMIC MEDICAL
CENTER FOR A MEDICARE PATIENT.
BECAUSE THE SINGLE PROXY VARIABLE WHICH BEST CAPTURED
4
�(
!
THESE COST DIFFERENfliiij WAS THE NUMBER OF RESIDENTS PRESENT I N A
TEACHING HOSPITAL, THfcl NUMBER HAS BEEN USED AS THE PROXY I N THE
MEDICARE FORMULA FO^ ADJUSTMENT OF DRG PAYMENTS TO TEACHING
HOSPITALS FOR 2 0 YEARS. THIS FUND AND THE DISPERSMENT FORMULA HAVE
ACQUIRED THE MISNOMlfc "INDIRECT MEDICAL EDUCATION ADJUSTMENT"
BECAUSE THE NUMBER OF RESIDENTS WAS USED TO CALCULATE THE
PERCENTAGE PAYMENT. ?HlS FUND I S NOT AN ADJUSTMENT FOR THE COSTS
OF EDUCATION OF RESIDENTS OR MEDICAL STUDENTS; I T I S A PROXY FOR
SEVERITY OF ILLNESS, WAGE DIFFERENTIAL, UNCOMPENSATED CARE AND
OTHER ADJUSTMENTS WHICH COULD NOT, AND TO THIS DAY, CANNOT BE
EASILY MEASURED.
I T IS PROBABLE THAT SOME OF THE HIGHER COSTS OF CARE I N
A TEACHING HOSPITAL AflE RELATED TO THE PRESENCE OF RESIDENTS AND
STUDENTS, BUT I T I S SIMPLISTIC TO ARGUE, AS SOME HAVE, THAT MOST OF
THESE COSTS ARE ATTRIBUTABLE TO EDUCATION BECAUSE RESIDENTS ORDER
MORE TESTS AND THUS DRIVE UP COSTS.
THE TEACHING HOSPITAL
PATIENTS ARE MORE SEVERELY I L L , HAVE MORE COMPLEX DISEASES, ARE I N
HOSPITAL LONGER, AND OFTEN PARTICIPATE IN CLINICAL RESEARCH TRAILS.
ALL THESE FACTORS UNIQUE TO ACADEMIC HEALTH CENTER PATIENT CARE
CONTRIBUTE TO THE COST DIFFERENTIAL.
MANY BELIEVE THAT THE
RESIDENT I S MERELY A BYSTANDER AND MARKER FOR THE PRESENCE OF SUCH
ACUTE CARE. .
THE NEW TRUST FUND WILL NOT HAVE THE SAME FORMULA AS
THE IMEA MEDICARE FUND; I T WILL BE MORE INCLUSIVE,
AND WILL
ATTEMPT TO MEASURE MORS DIRECTLY ALL THE SOCIETAL BENEFITS PROVIDED
BY THE ACADEMIC HEALTH CENTER WHICH THE FUND IS MEANT TO SUBSIDIZE
AND PRESERVE.
WHETHER THE MEDICARE IMEA FUND WILL BE FOLDED INTO THE
ALL PAYOR TRUST FUMD I S STILL BEING DISCUSSED.
I T I S A MORE
CAUTIOUS AND PERHAPS - WISER OPENING POSITION TO LEAVE THE IMEA
ADJUSTMENT FUND UNTOUCHED FOR THE FIRST YEARS OF HEALTH REFORM.
THE ACADSKIC CENTERS ARE USED TO DEALING WITH THE
MEDICARE PORTION OF THIS FUND AS A STAND ALONE PIECE; THEY WILL
EXPERIENCE DESIRABLE STABILITY IN BUDGETING FOR EDUCATION, RESEARCH
AND COMPLEX PATIENT CARE DURING THE TRANSITION I F THIS FUND IS LEFT
UNTOUCHED. TRANSITION TECHNICAL ADJUSTMENTS WILL NEED TO BE MADE TO
DOWNSIZE THE IMEA AND UPS IZE THE ALL PAYOR FUND AS MEDICARE SHIFTS
TO THE NEW HEALTH CARS SYSTEM OCCJ
THE MAIN iTHRUST OF THE NEW ACADEMIC TRUST FUND TODAY
SHOULD BE TO TAP ALL MOTHER PAYORS AT THE ONSET. THIS WILL ENABLE
ACADEMIC CENTERS TO LOWER CERTAIN PATIENT CHARGES AND ENTER THE
COMPETITIVE MARKETS AS AN AHP FOR THEIR ORDINARY PATIENT CARE
FUNCTIONS IMMEDIATELYe
I T WILL ENSURE THAT FROM THE START, ALL
PAYORS CONTRIBUTE TO^ITHE SOCIETAL BENEFITS TO BE DERIVED FROM
ACADEMIC HEALTH CENTSRS AND THAT THE "FREE RIDER" PHENOMENON I S
EXSTINGUISHED.
�Clinton Presidential Records
Digital Records Marker
This is not a presidential record. This is used as an administrative
marker by the William J. Clinton Presidential Library Staff.
This marker identifies the place of a tabbed divider. Given our
digitization capabilities, we are sometimes unable to adequately
scan such dividers. The title from the original document is
indicated below.
Divider Title:
8
�FROM:UMflB H M N GENETICS
UA
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3014690217
MOY
7. 1993
4:02PM
8571
P.19
HXJi&i Maryland B i r t h Daf«ct« Reporting and Information Systam
(BORIS)
O RBBPOMffim MBNCY:
Maryland Department of Haalth and Mental Hygiene
Local and Family Haalth Administration
office for Hereditary Disordera
201 West Preaton Street
Baltimore, Maryland 21201
e
WW*
(410) 225-6731
0 opmcx mBPHifl)!
Dr. Susan Fanny
Marion Robertson
Nanoy Eason
Nanoy Street
Fax: (410) 533-5995
>
1. To identify infanta born with birth defecta and genetic
disorders in order to collect data on the incidence of birth
defects in Maryland*
2. To provide information to families in an effort to maximize
resource utilisation and thereby, mininize the mortality,
morbidity, and losses to society caused by genetic diseases
and birth defects.
o ttflimTIVB MfflPftTB;
The Maryland General Assembly, during its 1982 session, passed
the Sentinel Birth Defects - Reporting and Information System
(BORIS) Law requiring that hospital* report (without names,
unless the parents aareed) to the Department of Health and
Mental Hygiene the birth of ohildren with sentinel birth
defects. (Health-General Article, Section 1B-206| Annotated
code of Maryland). Amendments to the law, passed in 1986,
provide for disclosure of the identity of the child to the
Department of HeaUh and Mental Hygiene. This enables the
Department to write to the parents before their infant is six
months of age offering the Department's assistance in
connecting with appropriate services, i f needed. The identity
of the child may not be released Irfitt tilfi Denartmant without
the written consent ot the parent or guardian of the child.
There is no enforcement provision for hospital compliance,
compliance is encouraged through f i t * viaiU and education.
�FR0M:UMPIB HUMRN GENETICS
TG:
30146S0217
MAY
7.
1933
4:03PM
«571
Maryland's lav incorporata* a l i s t of "aantinel" defects chosen
by the world Health Organieation (WHO), The 12 MSentintl*
Defecte are as followst
1
0
0
o
O
O
o
0
O
O
o
o
o
ANENCBPHALY
SPINA BIFIDA
HYDROCEPHALY
CLEFT LIP
CLEFT PALATE
ESOPHAGEAL ATRESIA/STENOSIS
RECTAL/ANAL ATRESIA
HYPOSPADIAS
REDUCTION DEFORMITY - UPPER LIMB
REDUCTION DEFORMITY - L W R LIMB
OE
CONGENITAL DISLOCATION OF THE HIP
DW S N R M
ON Y D O E
Any infant born in a Maryland hoepital with one of the sentinel
defects is, by law, to be reported to the BDRIS system within
five days or birth. The reporting of other major disabling
malformations i s strongly encouraged on a voluntary basis.
Fatuees/neonates weighing more than 500 grams and at more than
20 weeks gestation are to be reported by lav* Reporting of
genetic terminations or spontaneous losses of malformed fetuses
occurring before 20 weeks gestational age (fetuses less than 900
grams) i s also encouraged.
o M T O S OF D T C0LLE0TIOM? ABCERTAIMMHMT:QUALITY A B O W B :
EHD
AA
STAO
The hospital of birth completes the BDRIS report form shortly
after the birth. Page one i s usually completed by nurse
interview with one or both parents. Page two i s completed by
the child's pediatrician and/or the hospital staff. Page three
is completed by the obstetrician and/or hospital staff. Bie
BDRIS nurse consultant reviews the reports, codes detects, and
conduote follow-up for missing infonnation and lab results.
Coding of up to nine diagnoses per report i s dona using the 5digit International Classification of Diseases.
An estimate of the number of missing cases i s determined from
the number of cases reported on BDRIS forms only, those reported
on certificates only, and those reported to both, since 1991, a
l i s t of cases reported only to certificates has been given to
each hospital so that a BDRIS report can be initiated i f
appropriate. Verification of e diagnosis i s done for BDRIS
reports when i t i s unclear or marked as ••cuepect . improvement
of case ascertainment and report quality is achieved through inservice presentations for hospital personnel.
M
P.20
�F O : M B H M N GENETICS
RMUA
UO
T:
Q
3014690217
M Y 7. 1993 4:04PM 8571
R
o BQVRC8B PI mh*
BDRIS reports submlttsd by forty Maryland hospitals and two
birthing centers provide 80% of the data. Birth/fetal death
oertificatos contribute 20%. These are the two primary sources
of data, other sources include the Maryland Infant Hearing
screening Program, Children's Medical Services, Maternity
summary forms, and M R G data set forms.
AHN
o XABlABXtEflt (if not listed on Core Variables chart)
vitamin use prior to conception, birth control use, TORCH titer
results, referral Information, adoption/foster care placement,
prenatal tests.
O BEftVIOEB PROVIDBD 8
The service component of this program alms to provide
information to families in an effort to maximise resouroe
utilisation as well as provide useful information to parents on
specific defects. The BDRIS Program has prepared three
brochures, one of which i s given to parents before they leave
the hospital, Usually, the brochure "Special Information About
special Babies" i s appropriate. However, when the baby's
prognosis i s not good, "Parenting The Baby With A Serious Birth
Defect - You Are Not Alone' is more euitable. I t i s less upbeat
than the other brochure but basically provides the same
information. "Questions, Answers and Help for Parents After
stillbirth or Infant Death" i s appropriate in a l l oases of
infant loss, whether or not there ie a birth defect. The BDRIS
Program contacts parents by letter before the child i s six
months old, offering assistance in connecting with appropriate
services or providing infonnation about the speciflo defect,
support groups, or genetic counseling. Ne have also developed
two special letters; one, for parents of children with
hypospadias, and one for parents of children with a very serious
birth defect or genetic disorder* BDRIS staff are available
to respond to requests for help in finding sources of support or
information,.
1
o TTMB SPAM or DATA BASBtAvailabilltY of Data:
January i , 1984 - present
September 19B3 - December 1983
Pilot data collection
Data i s available immediately upon receipt. Data clean-up and
report preparation requires about 12 months.
P.21
�FROM:UMAB H M N GENETICS
UA
TO:
3014690217
MAY
7, 1993
4:04PM
8571
6 H M B OF BIRTHg/RBTORTg FBR YBM»
HBR
Total births per yr. approximately 65,000 (1984); 80,000 (1991)
Resident births in Maryland hospitals (covered by law):
approximately 56,000 (1984); 70,000 (1991)
Cases ascertainedt approximately 375 per year
e IXftEZi
Susan R. Penny. M D , Division chief, Office for Hereditary
..
Disorders; pediatric genetioist.
Marion 0. Robertson, M.A. Program Administrator;
biology/genetics, science education, data management.
Nancy H. Eason, R.N. M.S. Nurse Consultant; maternal and child
health,education.
Nancy A. Street, B.A. Administrative Officer;chemistry;
environmental risk analysis;data management and analysis.
O gUBLICATIOMS!
Xhoury MJ, Weinstein A, panny SR, Holtzman NA, Lindsay PX,
Warthen FJ, street N, Robertson M Parrel X, and Eisenberg M:
,
Epidemiology of sentinel birth defects in Maryland, 1984.
Maryland Med J 33;837-845, 1986.
Khoury MJ, Weinstein A, Panny SR, Holtsman NA, Lindsay px,
Parrel X, and Eisenberg M Cigarette smoking and oral cleftst
J
Am J Publ Health 77:623-625, 1987.
Khoury MJ, Panny SR, Weinstein A, Stewart W Lindsay P,
,
Eisenberg M: Residential mobility during pregnancy:
Implications for environmental teratogenesls. J Clin Epidemiol
41115-20, 1988.
Law C, Robertson NO, Panny SR. wuiff LM: characteristics
influencing informed consent in a congenital malformations
registry. A J Publ Health 78:572-573, 1988.
m
panny SR and Bernhardt Bt state sponsored genetic services in
Maryland. Maryland Med J 381928-932, 1989.
Flood T, Harris J, Xeefer S, Mere R, Hoveh, Hanson J, panny S,
Schramm W Costa p, Olsen C, Murray A, Marasita M and LeHeir M:
,
Birth Defects and Genetic Disease Branch, CDC: Spina Bifida
Prevalence at Birth - United States 1983 - 1990. M W July 10,
MR
1992 Volume 41, 27:497-501,
BDRIS Staff! GuideHneg for Hospital Peraonnsl. Revised 1992.
P.22
�i
INDIVIDUAtlCOMPETENCE, AND IN GENERAL, WILL DO SO. THE
PROBLEM VllfllE IS PARTIALLY THE NATURAL SELF-CONFIDENCE
AND PRIOR 6 t THE PHYSICIAN WHICH CAN LEAD HIM TO DABBLE.
BUT I T IS>M6ST DEFINITELY THE COMBINATION OF THAT CAN-DO
ATTITUDE WITH AN AHP RESTRICTING OUTSIDE REFERRAL.
THE RELATlOSSHIP BETWEEN ACADEMIC CENTERS AND CURRENT
HMOs ALREADY\PROVIDES MANY EXAMPLES OF THESE PROBLEMS.
AHPs MUST CONTRACT WITH ACADEMIC HEALTH CENTERS TO
PROVIDE CERTAIN i^ERVICES; THIS CONCEPT WILL BE READILY
EMBRACED BY COMMUNITY AND RURAL AHPs WITH NO PRETENSIONS
TO OMNIPOTENCE. IT\MAY HAVE TO BE ENFORCED FOR CERTAIN
LARGE AHPS OR FOR-PRSFIT AHPs WHO WILL DESIRE OR
REQUIRE THAT ALL CARENBE RENDERED WITHIN THEIR WALLS.
PATIENTS MUST HAVE THE R^GHT OF ACCESS TO THE
APPROPRIATE PROVIDER FOR SERVICES; THEY NEED NOT
AVAIL THEMSELVES OF THE RIGHT; THEY NEED NOT TRAVEL
500 MILES TO THE ACADEMIC CENTER I F THEY DO NOT WISH
TO. BUT THEY MUST KNOW THAT IJHEIR AHP HAS A 14%
MORTALITY FOR THE WHIPPLE PROCEDURE AND THE JOHNS
HOPKINS HOSPITAL HAS 0% MORTALITY FOR THIS COMPLEX
SURGERY. THEY MUST BE FREE TO CH^SE HOPKINS, BE
PROPERLY REFERRED, NOT DUMPED, A N D N T H E I R COSTS AT
HOPKINS PAID BY THEIR AHP [ r e f e r e n c e ^
CO-PAYMENTS AND DEDUCTIBLES WILL BE PA^D BY THE
REFERRING AHP, HIPC OR RESEARCH GRANT FOR PATIENTS
REFERRED TO THE ACADEMIC CENTER TO BE ENROLLED I N
AN AUTHORIZED CLINICAL TRIAL. THIS WILL REMOVE A
PATIENT INHIBITION TO ENROLLING IN A RESEARCH) TRIAL.
PATIENTS WITH RARE DISEASES, MANY OF WHICH ARE GENETIC,
WILL OCCUR WITH A PREDICTABLE FREQUENCY PER 100,000
PERSONS IN JtACH STATE ( r e f e r e n c e s , B a i r d , P. P o p u l a t i o n
study , B i : V t i . Columbia, 1987; Khoury, b i r t h d e f e c t s ,
Maryland, ,1984.) MANAGEMENT OF PATIENTS WITH SUCH
RARE DISEASES OR BIRTH DEFECTS SHOULD BE SUPERVISED BY
ACADEMIC HEALTH CENTER PROVIDERS AND THE OUTREACH
NETWORKS THEY HAVE ALREADY ESTABLISHED WITH STATE
HEALTH DEPARTMENTS AND REGIONAL NETWORKS TO IDENTIFY
SUCH CASES AND REFER THEM FOR APPROPRIATE CARE,
[ r e f e r e n c e s Maryland, Western S t a t e s CORN, Iowa
p e r i n a t a l program] ALL PATIENTS AND THEIR FAMILIES HAVE
A RIGHT TO GENETIC SCREENING AND REFERRAL FOR
CONSULTATION OR CASE MANAGEMENT BY EXPERTS WHO HAVE THE
POOLED EXPERIENCE OF ALL OF THE STATE OR REGION'S CASES
OF THAT DISEASE. SOME OF THESE CONDITIONS WILL NOT BE
COSTLY TO CARE FOR, BUT THEY STILL MUST BE REFERRED, AT
LEAST FOR CONSULTATIVE OVERSIGHT OF THEIR CARE.
sh
THE RARE DISEASES RAISE THE ISSUE THAT SOME CONDITIONS
ARE SO RARE, AND SOME PROCEDURES PERFORMED SO RARELY,
THAT APPROPRIATE REFERRAL IS NOT JUST TO THE LOCAL
�ACADEMIC Iflttl/TH CENTER FOR THAT AHP, BUT NATIONAL OR
REGIONAL. MtPCs MUST BE ABLE TO NEGOTIATE PATIENT CARE
BETWEEN STAfES AND REGIONS, AND MUST BE PREPARED TO
REFER PATlJWTS TO THE NATIONAL CENTER. For i n s t a n c e , I
have i n my O l i n i c a t S t a n f o r d Medical Center one o f t h e
11 i d e n t i f i a d cases i n America o f a d u l t Neimann-Pick
Disease. Evan S t a n f o r d i s not prepared t o c a r e p r o p e r l y
f o r t h i s p a t i e n t [whose home by t h e way i s i n Modesto
i n the c e n t r a l v a l l e y of C a l i f o r n i a ] .
I am c u r r e n t l y
a r r a n g i n g t o r e f e r t h i s p a t i e n t t o Mt. S i n a i i n NYC,
where a c o l l e a g u e i s g a t h e r i n g these p a t i e n t s f o r
a c l i n i c a l . r e s e a r c h t r i a l o f t h e r a p y , funded by t h e NIH
w i t h an i n d i v i d u a l g e n e t i c s t o r a g e diesease r e s e a r c h
g r a n t and ft,.Clinical Research Center g r a n t t o Mt. S i n a i .
T h i s t h e r a p y may i n v o l v e lung t r a n s p l a n t as w e l l as
gene t h e r a p y ; t h e gene therapy may be performed i n NY,
t h e l u n g t r a n s p l a n t a t S t a n f o r d , and e v e n t u a l l y , i f we
succeed, h i s r o u t i n e care w i l l again be p r o v i d e d i n
Modesto, CA*
What p a r t o f these c o s t s s h o u l d h i s AHP
i n Modesto pay; what funds should be t r a n s f e r r e d t o
S t a n f o r d ; What funds t o S i n a i ? His l o c a l p h y s i c i a n l o n g
ago t o l d h i m he had a disease no one knew about and
should r e s i g n h i m s e l f t o t h e death h i s b r o t h e r s u f f e r e d .
S t a n f o r d t o l d him 2 weeks ago t h a t he was low on t h e i r
t r a n s p l a n t l i s t because he had an i n c u r a b l e d i s e a s e and
h i s o n l y mSdical care coverage was w i t h Medicals
FINANCING OF CARE IS ALREADY AN IMPLICIT AND CAPRICIOUS
TECHNIQUE FOR RATIONING HEALTH CARE IN THIS COUNTRY; WE
MUST SET THE TRAFFIC RULES FOR PATIENT MOVEMENT TOWARDS
THE APPROPRIATE LEVEL OF CARE AND MUST REMOVE FINANCIAL,
REFERRAL ANO LEGAL BARRIERS TO ACCESS TO THAT CARE.
GATEKEEPING THAT RESULTS IN DEATH OR DISABILILTY FOR
TREATABLE CONDITIONS WILL NOT BE ACCEPTABLE TO THE
AMERICAN PEOPLE.
THE ACADEMIC MEDICAL CENTERS AND THE STATE HEALTH
SERVICES DEPARTMENTS HAVE BEEN SPECIAL PARTNERS I N
PROVIDING SCREENING AND DETECTION, DIAGNOSTIC AND
THERAPUTIC SERVICES TO PATIENTS IN REMOTE AREAS, TO
INNER CITY PATIENTS AND TO SUCH SERVICES AS NEWBORN
SCREENING *0R RARE GENETIC-METABOLIC DISEASES. WE
CANNOT EXPECT EVERY AHP TO TAKE OVER ALL OF THESE
PUBLIC HEALTH FUNCTIONS; THEY MUST CONTINUE TO BE
PERFORMED UNDER STATE/HEALTH ALLIANCE AUSPICES TO
INSURE THAT ALL CITIZENS ARE REACHED, AND THAT ONCE
AN ABNORMALITY IS DETECTED, THE PATIENT I S REFERRED
TO A SUITABLE SITE OF CARE REGARDLESS OF I N I T I A L AHP
MEMBERSHIP OF THE PATIENT OR HIS/HER FAMILLY.
EXAMPLE OF MARYLAND NETWORK
EXAMPLE OF UCSF NETWORK TO
|
ALASKA, NORTHERN CALIF.
FOR THOSEtlERVICES INVOLVING RARE DISEASES, DISEASES
THAT REQUIRE ENTIRE POPULATION SCREENING TO DETECT AT A
�(VI 0 35"
Am. j. Mum. Gtntt. 42:677-693.
t9Si
Genetic Disorders in Children and Young Adults:
A Population Study
Patricia A. Baird,* Terence W. Anderson,! Howard B. Newcombe4 md R. Brian Lowry§
•O^Hrmmm ot Mwlkst Garatka. UnKmitr of BrKtah Cotumbt*. ind HoWi SurralHam t ^ f m y . Divt o r at Vtol StatMa. BrttMi Cslumbti
lilnistrr ot H M W V ind t O ^ r m w m a/ H a M i C a n md EpidrnMosr. Untv«r*ty of British Cokmbia.''mcouw: ) O n p R W , Onorio.
CiradK md { U M ^ n t t f of Calpr? md A l t n r a CNMran't Hctptal B n w r t i C a n m
Summary
The data ba*e of an ongoing populadon-based registry with multiple sources of ascenainmcm was used to
estunate the present population load from genetic disease in more than 1 tnillinn consecutive live births. It
was found that, before approximately age 25 yean, »53/1,000 live-bom individual] can be expected to
have diseases with an important genetic component. This total was composed <f single-gene disorders
>
(3.6/1,000), consisting of autosomal dominant (1.4/1,000), autosomal recessiv e (1.7/1,000), and X-linked
recessive disorders (0 J/1,000). Chromosomal anomalies-accounted for 1.8/1,0 X), multifactorial disorders
(including those present at birth and those of onset before age 25 years) accounted for 46.4/1,000, and
cases of genetic etiology in which the precise mechanism was not identified acc turned for 1.2/1,000. Previous studies have usually considered sUJ congenital anomalies (ICD 740—759) as pan of the genetic load, but
only those judged to fit into one of the above categories were included in the present study. Data for con*
genital anomalies are therefore also presented separately, to facilitate comparison with earlier studies. If all
congenital anomalies are considered as pan of the genetic load, then »79/1,00 I live-bom individuals have
been identified as having one or other genetic disorder before approximately ag: 25 years. These new data
represent a bener estunate of the genetic load in the population than do previous studies.
Introduction
Better information on the frequency of genetic diseases existing in our populanon is essential for planning rational health care strategies and for estimating
any possible future increase in genetic load from mutagens. Iti the past, data of this son have come partly
from special surveys and panly from populationbased registries. These two kinds of source tend to
complement one another. In the past, valuable information has been obtained from the British Columbia
Health Surveillance Registry (HSR) for the purposes
of genetic risk assessment (Trimble and Doughty
Received Scpcember 11, 19(7; rrrition received December 11,
1M7.
Addren for corre^ondence ind reprina: Dr. Pitricu A. B*ird,
Depvtment of Medical Genedcs, Univeniry of British Columbia,
226-6174 Univeniry Boulevard. Vancouver, Britiih Columbia,
Canada V«T 1W5.
O 1911 by TIK American Society ol Humtn Ccmtict. AU tighn nwrvtd.
0002-9297/11/42054003101.00
1974; Trimble and Smi h 1977), and these data have
been quoted in most of the subsequent reports from
official committees cor ccmed with the genetic aspects of radiological protection (see, e.g., UNSCEAR
1977; 1982, pp. 543,5<l6). The HSR has grown substantially since the earier study, and, in addition,
further categorization ol the data by etiology is possible. Analysis of the upc ated data was therefore undertaken to obtain a more accurate estimate of the
population load for gen :ric disease.
The HSR records and classifies cases of handicapping conditions, congenital anomalies, and familial
disorden in the popuhition of that province (see
Health Surveillance Reg istry: annual report 1981).
The information is provided by a number of government agencies concerned with health, rehabilitation,
and human resources and by hospitals, treatment and
rehabilitation centers, vo untary agencies, physidans,
and the vital registration system.
The HSR has been wicely used for studies of particular hereditary diseases and congenital malforma677
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�Baird et al
678
Table I
TotaJ Uva Blrtlti. FUflxtarvd C U M . and Rata* In Until*) Columbia, by TTira* Birtti Partoda
TOTAL
1974-83
19*4-73
Rati'
Live birthi
All regiirered caiej
C u a with jmgie ICD code
Cues with two or more ICD coda...
4
437,503
19,476
13,123
(67%)
6J53
(33%)
44,J16J
29,995.2
14.521.0
Rate'
344,665
25.909
19,746
(76%)
6,163
(24%)
75.171.5
57,290.4
17,881.1
Rate'
Rite'
3 7,705
•9,919
:: 1,639
.72%)
1.280
28%)
77.169.5
55,813.1
1.169,873
75.304
54,508
64J69.4
46493.1
2U56.4
(72%)
20,796
17.776J
(28%)
Per 1 million live births.
rions (Baird and Miller 1968; Renwick 1968; Lowry
et al. 1972, 1976, 1986; Lowry and Trimble 1977;
Baird and MacOonald 1981; Baird 1983; Baird and
Sadovnick 1985, 1987; Wilson and Baird 1985). Because the HSR is maintained within the vital registration system, it has been possible to arrange for the
HSR records to be routinely linked with the identifying particulars and relevant information contained in
birth registrations of individuals. The existence of
this ongoing data base makes it possible to estimate
the number of individuals bom within the populanon
since 1952 who have been identified as having a disorder with a wholly or partially genetic cause. Confidentiality of the personal information contained in
the records is maintained under the same legal safeguards that are applied to the vital records.
Methods
The HSR was established in 1952, in the Division
of Vital Statistics of the Provincial Ministry of
Health, and is located in Vancouver (Lowry et al.
1975; Baird 1983, 1987).
By the end of 1984 the HSR master file contained
information on 154,071 individuals. Of these,
75,304 had been bom in British Columbia between
1952 and 1983 inclusive, and it is from this group of
records that the present analysis was performed. An
overall summary of the data available in the HSR is
presented in table 1. In all, there are more than 60
sources of registration, and currendy approximately
9,000 new cases are reported each year to the HSR
from a population of 2,890,000, in which there are
now some 40,000 live births annually. Of the more
than 100,000 registrants who are still living, ~44%
are less than age 20 years.
To avoid dup icate entry of cases, each new record
is compared wivh an alphabetic index before inclusion in rhe HSR data base. HSR records are linked
manually with provincial birth registration numbers,
further reducing the likelihood of duplication. As
well as an ICD'; code, each diagnosis is given an
"etiology" code. These etiology codes are assigned on
intake, case by c se, and include the categories autosomal dominant, autosomal recessive, X linked,
autosomal chromosomal disorders, sex-chromosomal disorders, genetic but precise mechanism unknown, and muiiifactorial. As well, other etiology
codes, such as tr. iuma, unknown, infection, and teratogen, can be applied.
Since data from a greater number of years were
available to us than to earlier investigators (Trimble
and Doughty 1971), we have been able to divide the
records into thter. time periods that are each »10
years in length (12 52-63, 1964-73, and 1974-83).
This has meant th,: t for each category of disorder we
have been able to choose the "decade" that seemed
likely to reflect mc st closely the genetic load for that
disorder in the population. Thus each of our rates is
based on *10 yean of data. The choice of "best"
decade has been trade for each individual diagnosis
within each etiolo jcal group, as has the grouping
into dominant, reo ssive, etc.
It is necessary to follow a hierarchical approach to
ensure chat individ uals are not counted more than
once. Although in gisneral we have followed the same
hierarchical approach as Trimble and Doughty
(1974), we have ch wen not co proceed from singlegene disorden to chiomosome disorden to "congenital anomalies" and then co "other multifactorial."
Rather, multifactori il disorden have been identified
separately and haw, been examined after chromo1
I6Ct
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1952-83
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�Genetic Disorden in Population
679
some disorden in the hierarchy. Rather than count
all the many diagnoses that might possibly have some
multifactorial component, we have restricted ourselves to those relatively common conditions that are
generally accepted as having a major multifactorial
component. Detailed data are provided, so that the
reader may compare our results with those of other
studies. Data on all congenital anomalies are also
presented separately, so that the data can be compared with those of other studies.
We have not made any adjustments to the rates to
compensate for undcrascenainment, outmigration,
etc The reason for this is that there is little or no hard
evidence on which to base these adjustments. If the
rates are to be used as a baseline against which to
determine whether changes are occurring in the frequency of certain disorders, then any observed increase (or decrease) is likely to be affected by similar
distortions, such that the relative change should
therefore be unaffected.
For the purpose of assessing the genetic load in the
population, it is desirable that all cases of hereditary
and partially hereditary disease known to the HSR be
counted as such, regardless of the presence of nongenetic disorden in the same individual. Similarly,
among the cases of genetic disease as a broad category, there is likely to be a small proportion of individuals who, purely by chance, are affeaed by two,
quite independent, hereditary conditions. So that this
information would not be lost, cross-tabulations
were done, indicating specifically which genetic diseases and which genetic etiologies occurred in 'the
same individuals; and these disorden were evaluated
and included.
A multifaaorial disorder is one in which alleles at
several gene lod determine vulnerability to express a
disorder. The term "multifactorial" will be used in
this sense throughout this repon. Rates for the multifactorial disorden as defined below were derived
for the threetimeperiods.
The etiology category "generic unknown" is used
by die HSR when it is evident that the condition has a
genetic basis (e.g., Charcot-Marie-Tooth disease) but
when it is not known whether the particular case is
autosomal dominant, X linked, multifaaorial, or
autosomal recessive. These cases have been added
separately to the estimate of genetic load. Since in
total there were more than 1,300 of these cases, it
was impossible to review them manually, so simple
totals have been produced for each decade for this
group. •
iOO®
Ruuita
I. Autosomal Oorr mant
The fint cullir ; of the data set extracted all those
cases in which »iy attached diagnosis had a dominant etiology in licated. Cases with only a single
dominant diagno is (with or without additional diagnoses of lower r. nk) accounted for almost 75% of
the 1,041 dominant cases identified. However, there
were 280 cases in which there was more than one
ICD diagnostic cc de with a dominant etiology code.
A single most apj iropriate ICD number was arrived
at by consensus o; the two medical geneticists among
us (P.A.B. and R.J I.L) after review on a case-by-case
basis; and only a \ try small number of such cases had
more than one do minant disease.
In this way afinil summary tabulation, with dominant cases classifie i by a single ICD diagnosis and by
three periods of birth years, was prepared (table 2).
.The low rate for the third period almost cenainly
reflects the typical y late onset of disabiliry in dominant disorders. Th: fact that the rate for the oldest
cohon (1952-63 »irths) is substantially lower than
that for the middle :ohort (1964-73 binhs) probably
reflects the increased completeness of ascertainment
in more recent yea rs as important sources of ascertainment were add id during the early 1960s (Baird
1983, 1987). It is i :cognized that these are minimal
estimates of rates, since cases with relatively mild
manifestations may not be diagnosed or may not
come to the attention of the ascertainment sources.
Some cases from tlie "genetic unknown" category
also likely belong ht re, a circumstance also leading to
a minimal estimate of dominant disorden.
Rates per million live binhs were calculated for
each diagnosis within each of the three periods (table
2), and then, for each diagnosis, the most appropriate
of the three rates wsis chosen, to arrive at a sum for
the highest individua I rates. The highest rate was usually chosen on the ai umprion that under- rather than
overascenainment is the more likely source of error,
particularly for conditions that are late in appearing.
This process resulted in an overall rate for dominant
disorden of 1,395/1 million live binhs. i .v^5 /lOOb •
2. Autosomal ftecessfre
After the dominant had been removed, all cases
with an HSR etiology of autosomal recessive were
listed. These totaled 1181. Compared with the dominant disorden, there were relatively few ambiguous
cases, and these were dealt with by the same proce-
dSOH 1VH3N33 31A
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Baird et al.
Tabt* 2
FfHUidM
of th» Mot Common Qomkm
19J2-63
ICD9, OOMINANT CONDITION
I 190.5. Retina, malignant ncoplaia
*. 237.7, Ncurafibromaioaii
•> 277.8, OtWanortlen erf
roetabolani
^ 282.0. Heredinry tpberocywwij
M 286.4, Voo WUlebrand diacaac
• J59X Myoroiuc dtjorden
1 362.7, Hereditary retinal dyscrophia.
8 379J, Nywagmu* and other irregular eyt movements
I 389.1, ScnaorineuraJ deafness
14 743J, Congenial cataract and lens anomalies
W 755.0. Polydactyly
It 755.5,* Other anomalies of upper limb*, induding shoulder girdle
a 756.0, Anomalies of skull and face bones
1 756.4, Chondrodystrophy
^
15 756.5. Osteodystrophies
»• 756.8, Other specified anomalies of musde, tendon, fasda, etc
n 756.9, Unspecified anomalies of musculoskeletal system
I g757J,* Other ipedfied congenital anomalies of ikin
I I 759J, Tuberous sderosis.
» 7 5 9 . 8 . Other spedfied congenital anomalies
*! All other dominant conditions'
k
Total
Sum of highest individual rates
N
Rite'
6
13.7
34 77.7
1
2.3
12 27.4
5 11.4
14 32.0
13 29.7
14 32.0
3
6.9
21 48.0
6
13.7
3
6.9
9 20.6
48 109.7
24 54.9
13 29.7
2
4.6
11 25.1
13 29.7
17 3 8.9
UO 251.4
I964-7J
1974-»3
TOTAL
N
Rate'
N
M
J3
'
11
:
'
I
I
40.6
95.7
20.3
52.2
20.3
23.2
0.0
5.8
43J
29.0
46.4
5.8
31.9
60.9
89.9
40.6
23.2
14.5
66.7
46.4
246.6
16 41.3
32 82J
11 28.4
20 51.6
8 20.6
6
15.5
0
0.0
3
7.7
4
10.3
5 12.9
14 36.1
9 23.2
14 36.1
20 51.6
29 74.8
7 18.1
0
0.0
6
15.5
22 56.7
9 23.2
81 208.9
1:
H'
li
1
2;
31
U
t
i
23
16
85
379 866.3 346
1,003.9 316
Rate*
815.1
N
Rate'
36
99
19
50
20
28
13
19
22
36
36
14
34
89
84
34
10
22
58
42
276
30.8
84.6
16.2
42.7
17.1
23.9
11.1
16.2
18.8
30.8
30.8
12.0
29.1
76.1
71.8
29.1
8.5
18.8
49.6
35.9
235.9
1,041
889.8
1.395.4
' Per 1 million live births.
"Spedal HSR code.
' Each individual rate was used to determine the sum of the highest individual rates for tt oe condibons.
dure as previously oudined for dominants. A summary of thefinaltabuladon is shown in table 3. The
overall rate was 1,008/1 million, with the middle cohon again showing the highest rate, at 1,178/1 million. When the highest rates for each individual diagnosis were summed, the rate for autosomal recessive
disorders was 1,655/1 million live births. J j C f j *
5. Sex-Otrnmosamc Disorden
1 X-tinfced Disorders
Owing in pan to the relatively small number of
cases in this category, there were few ambiguities;
and these were quickly resolved. The 394 cases gave
an overall rate of 337/1 million, with an overall
"maximum" rate of 532/1 million live births (table
4
>-
some disorder. R< i
iview of a few cases with ambiguous
or multiple etiolo
ogies resulted in the classification
shown in table 5.. There were 1,643 cases registered,
for an overall ran of 1,404.4/1 million live births.
ie
The maximum dc(Itailed rate for autosomal chromosoma! disorden ve; 1,693.2/1 million live binhs.
t as
J ^^3
. if
"b-l
Sex-chromosom : disorden comrrised the smallest
group of cases in iie hierarchy, with a total of 136
cases registered du ing the 32-year period. The correspondingly few air biguities were quickly resolved, resuiting in the nun :ben and rates shown in table 6.
The detailed sumr lation of individual rates resulted
in a maximum estu nate of 152.3/1 million live binhs.
4. Autototnoi Oinwnosome Dfsorders
6. MiMfdctorial Dfsrrders
These disorden were identified by listing all those
cases with ICD codes 758.0-758.5 and 758.9 and/or
an etiology code indicating an autosomal chromo-
As pointed out in Methods, a difference in this
analysis compared with that used in othen is that,
after ranking single -gene and chromosome disorders.
800®
dSOH IVaaNHD 01A
I6£f
LZL fr09O
0fr:60
ce/gT/fro
�Genetic Disorden in Population
681
Tab* 3
PpMpMnctat of thv Most Gocwnon RMSM^VV Dinrtfcrv
]9J2-i3
ICD9, RECHHVS COMOITTON
N
i
a
S
4
5
t
7
g
255.1, HypcnldostcroniBn
255.2, Adrenogenital disorden
270.1, Phenrlketonuria
270.2,* Other disturbance* of aromatic amino add metabolism
271.0, Glrcogenosis
272.7, Lipidoses
277.0, Cystic
fibrosis
277.5, Mucopolysaccharidosis
279.0, Defidency of humoral immunity
lis 282.4, Thalasscmiaa
U 330.1. Cerebral lipidosa
1X335.0, Werdnig-Hofftnann disease
*358.8,» Other myoneural disorden
(1359.1, Hereditary progressive muscular dystrophy
U 362.7, Hereditary minal dystrophies.
)f389.1. Sensorineural deafness
i7 389.9," Unspecified deafness
lft753.1. Cystic kidney disease
ll 756.5, Osteodystrophies
Jft 759.8. Other specified congenital anomalies
A| All other recessive conditions'
Total
Sum of highest individual rates
19M-73
1
Rate
N
13 29.7
7
5
11.4
8
26 59.4
18
22 50-3
19
3
6.9
12
4
9.1
10
80 182.9 105
8 18.3
II
4
9.1
12
15 34.3
7
5
11.4
10
6 13.7
19
18 41.1
4
19 43.4
3
2!
48.0
10
. 9 20.6
12
20 45.7
12
11 25.1
10
1
2.3
8
7 16.0
18
104 237.7
91
401
916.6
406
llaic*
1974-83
N
Rate'
20.3
1
2.6
23.2
12 31.0
52.2
31
80.0
55.1
16 41.3
34.8
8 20.6
29.0
4 10.3
.!04.6
87 224.4
31.9
2
5.2
34.8
4 10.3
lOJ 16 41.3
£9.0
3
7.7
;5.1
15 38.7
1.6
0
0.0
8.7
0
O.O
. 9.0
0
0.0
:i4.8
8 20.6
;:4.8
4
10.3
; 9.0
7 18.1
23.2
7 18.1
512
21 54.2
261.0 126 325.0
:
1.17.:.0 372 959!$
TOTAL
N
Rate*
21
25
75
57
23
18
272
21
20
38
18
40
22
22
31
29
36
28
16
46
321
18.0
21.4
64.1
4g.7
19.7
15.4
232J
18.0
17.1
32J
15.4
34.2
18.8
18.8
26.5
24.8
30.8
23.9
13.7
39.3
274.4
1,179
1,007.8
1.655.3
* Per 1 million live births.
Spedal HSR code.
' Each individual nte was used to get rhe sum of highest individual rates for rhese conditions.
b
we did nor then examine "congenital anomalies" and
then "other multifactorial." Rather, we avoided using the category of congenital anomalies in the ranking process at all, since it is—unlike the other categories—not an etiological classification. Thus we
moved directly from sex-linked disorden to examine
the frequency of selected multifaaorial disorders.
The procedure adopted was to have the medical
geneticists among us (P.A.B. and R.B.L.) identify 22
diagnoses that are generally thought to have a major
multifaaorial genetic component. Cases with at least
one of these diagnoses were then identified in the
group remaining after the removal of the previously
described hierarchy of single-gene disorden through
chromosomal disorden. Selection of cases with an
ICD code in this list of 22 diagnoses was based primarily on ICD code number—excluding however,
those cases in which the HSR etiological code indicated a known cause, e.g., prenatal infection, known
teratogen, or birth trauma.
Various methods were explored to deal with the
problem of cases havin > multiple diagnoses. It was
found that the most efleaive way of handling this
problem was tofintcount for each diagnosis of interest the cases having only one diagnosis and then
choose the most appropriate birth period, co give the
"minimum estimate." This statistic is shown in table
7. Cases with more ths.n one diagnosis were then
grouped according to second (or more) diagnosis, for
the medical geneticists to ivaluate which cases, if any,
should be accepted as hi ving a multifaaorial disorder. Adding these case; yielded "expanded-minimum" estimates (table ;l). The cases added were
those for which the other code(s) indicated a disorders) likely to be a consequence of the initial multifaaorial condition.
Thus the individuals co mted in table 8 have either
one disorder only or disorders that, although coded
to different 1CD9 codes, are indeed basically the consequence of one condition. An example would be an
dSOH 1VH3N30 DIA
600®
�Baird et
682
TabU 4
rnqumndm at Ch* Mott Cannmoo X^bikad Dtoortton
1952-63
N
(CD9, X - U N U D CONDITION
\ 257.8, Other toticular dyifuncoon
I. 270.6, Oiaordcn of uira-qrde mctaboliun
3 275.4, Diionkn of calcium
roetaboliim
277.5, Mucopolyiaccharidoiia
S 279.0, Deficiency of humoral immunity
. 4 282.2, Anemia due to disorder of glutathione metabolism
I 286.0, Congenital faoor VIII disorder
• 286.1, Congenital factor IX disorder
t 288.1, Functional disorder of neutrophil polymorphs
io 317-319, Mental rewrdation
it 359.1, Herediary ptogressive muscular dystrophy
a 368J, Color-vision defidendes
13 588.1, Nephrogenic diabetes insipidus.
IY743J, Congenital anomalies of posterior segment
15 756.0. Anomalies of skull and face bones
/f, 757J, Other specified congenital anomalies of skin
17 759.8, Other spedfied congenital anomalies
I I All other X-linked conditions'
N
8
I
0
3
6
3
28
7
0
13
43
29
3
2
2
3
I
_5
+
k
k
Total
Sum of highest individual rates
1974-83
1964-73
Rare'
Rate*
7
3
0
0
0
14
14
1
3
5
13
14
4
3
3
7
0.0
0.0
5.8
8.7
5.8
5.8
69.6
29.0
0.0
14.5
98.6
92.8
5.8
5.8
2.9
8.7
0.0
29.0
3
11
132 383.0
105
270.8
N
18.1
7.7
0.0
0.0
0.0
36.1
36.1
2.6
7.7
12.9
33.5
36.1
10.3
7.7
7.7
18.1
7.7
28.4
18.3
2.3
0.0
6.9
13.7
6.9
64.0
16.0
0.0
29.7
98.3
66.3
6.9
4.6
4.6
6.9
2.3
11.4
157 358.9
N
Ratt*
TOTAL
0
0
2
3
2
2
24
10
0
5
34
32
2
2
1
3
0
10
Rate'
12.8
3.4
1.7
5.1
6.8
16.2
56.4
15.4
2.6
19.7
76.9
64.1
7.7
6.0
5.1
11.1
3.4
22.2
15
4
2
6
8
19
66
18
3
23
90
75
9
7
6
13
4
26
394 336.8
532.4
' Per 1 million live births.
" Spedal HSR code.
' Each individual rate was used to get the sum ol highest individual rares fo these conditions.
individual with cleft lip and palate who also had
malocclusion. Included in this table are some conditions—such as schizophrenia, idiopathic scoliosis,
and dislocatable hip—whose multifactorial etiology
is controversial. Such disorders are included because
there is evidence that they may be multifaaorial, and
they have been listed separately so that, if the reader
wishes they may be omined. There are several other
commcn disorders—such as alcoholism, hypertension, or the neuroses—that have not-been included in
the m ilrifaaorial category but that undoubtedly
have an important genetic component; but whether
in faa the aaual basis is multifaaorial is not clear.
The lumber of individuals counted in this way is a
TabteS
rnqmntim of Auwumal OsromoMnw Conditions
1952-,3
ICD9, AUTOSOMAL CHROMOSOMI
I
a.
>
^
{
758.0. Down syndrome
758.1. Patau syndrome (trisomy 13)
758Edward syndrome (trisomy 18)
758J, Autosomal ddedon syndromes
758J, Other conditions due to autosomal anomalies
758.9, Anomaly of unspedfiad chromosome
Total
Sum of highest individual rates
N
Rte*
1974-83
1964-73
N
Rate'
N
571 1,3)5.1 460 U34.6 394
22
3
6.9
15
43J
57
1
2.3
31
89.9
26
4
9.1
4
11.6
31
6
13.7
14
40.6
3
1
^
2J
0
0^
586 I J 19.5 524 1.520.3 533
TOTAL
Rate*
Rate'
1,016.2 1.425
56.7
40
147.0
89
67.1
34
80.0
51
7.7
4
1,218.1
34.2
76.1
29.1
43.6
^4
1.374.8
1,404.4
1.693.2
1,643
* Per 1 million live births.
OTOl)
dSOH nva3N33 DIA
T6Cfr LZL *09O
Zt-60
C6/9T/1'0
�Genetic Disorden in Populanon
683
Tabl«6
PriquiclM al Smtt^mmommiiml Condlbom
1964-73
1CD9, SUt-CHKOMOJOMAL CONDITION
758.6, Gonadal dyigaicsia.
758.7, Klinefelter syndrotnc
758.8, Other sex-chromoKHne anomalies
33
28
3
Total
Sura of highest individual rates
64
N
1974-83
TOTAI.
Kite'
N
Rate'
N
Rate'
N
Rate*
75.4 26
64.0 11
2
6.9
75.4
31.9
5.8
23
5
5
59.3
12.9
12.9
82
44
10
70.1
37.6
8J
113.2
13
85.1
136
116.3
152.3
146J
39
' Per 1 million live binhs.
minimal and conservative estimate oi the proportion
possibly multifact irially caused condition, occurring
of the population with multifactorially determined
with other disabil ties, to see whether it was approdisease. This is because individuals who have addipriate to allocate ;;ny one of these cases to the multional disabilities of any kind have not been included. tifaaorial categon . Included were oniy those groupIt would not have been practical to evaluate on an
ings for which it is very clear that the additional
individual basis the large number of cases rhat had a
diagnostic code is known consequence of the mul-
Tabte 7
MuMfactortal
wftti Only On* Dlagnoaii on Thatr Itocord
1952-63
ICD9, MuLTlFACTOftlAL CONDITION
• 250, Diabetes mellitus
a 295, Schiiophrcnic psychoses
3 296. Affective psychoses
1 317.1," Borderline mental retardation
5 317.2, Mild mental retardation
(. 345, Epilepsy
1 378.' Strabismus
« 493, Asthma
* 550, Inguinal hernia
1*691.8, Edema
M 740, Anencephaly
(1741, Spina bifida
IJ742.0, EncxphaWe
"•742.3, Congenial hydrocephalus
»5745-7, Congenital anomalies of hean and
circulatory system
I ^749, deft palate and deft lip
'T 750J, Congenial hypertrophic pyloric stenosis
'#751 J , Hirschsprung disease, etc
<1752.6, Hypospadias and epispadias
W54.7, Clubfoot
M 754.3, Congenital dislocation of hip
W754.9,* Congenial dislocatable hip
k
k
Total
1974-8.1
1964-73
TOTAL
N
Rate*
526
181
10
314
181
807
924
124
0
37
58
214
5
48
1,202.3
413.7
22.9
717.7
413.7
1.844.6
2,112.0
283.4
0.0
84.6
132.6
489.1
11.4
109.7
382
1,108.3
1
2.9
0
0.0
63
182.8
37
107.4
502
1.456.5
3,566 10.346.3
53
153.8
196
568.7
4
11.6
45
130.6
117
3394
7
20.3
99
287.2
103
0
0
1
5
228
1 450
71
1 997
3
50
67
8
76
265.7
0.0
0.0
2.6
12.9
588.1
3,740.0
183.1
5,150.8
7.7
129.0
172.8
20.6
196.0
1.011
182
10
378
223
1437
5,940
248
2,193
44
153
398
20
223
864.2
155.6
84
323.1
190.6
1,313.8
5.077.5
212,0
1,874.6
37.6
130.8
340.2
17.1
190.6
1,177
468
23
9
102
679
197
0
2,690J
1,069.7
52.6
20.6
233.1
1,552.0
450.3
0.0
1,699
445
805
60
558
1.433
878
12
1.34
'31
559
»3
6'.0
4,4724
1,111.7
2,344.6
110.9
1,599.2
5,073.4
3.409.8
1.604.3
4,610
1,344
1.737
112
1J80
4.079
2497
634
3,940.6
1.148.8
1,484.8
95.7
1.094.1
3,486.7
2,048.9
541.9
6,084
13.906.2
11,717 30.195.6 28,753
24477.9
N
Rate'
4,929.4
U91.1
2,335.6
174.1
1,619.0
4.157.7
2J47.4
34.8
10,962 31,804.8
N
1,9ii7
U
2
6.2
Rate'
Rate'
N
' Per 1 million live binhs.
Spedal HSR code.
k
U0[
asoH ivaaNas OIA
X > LZL m S
6C
"
: 6 0
e 6 / 9 T / f r 0
�684
Baird et al.
TabU S
of MlltttfK
by Fariod of Chofca
MINIMUM
PUIOD
or
ICD9, MULTIFACTOIIIAL CONDITIONS
2J0, Diabetes mellitus.
295, Schizophrcnic psychoses
296. Affective psychoses
317.1,* Borderline mental retardation
317.2/ Mild mental retardation
345, Epilepsy (excluding 345.6)
378, Strabismus
493, Asthma
550, Inguinal hernia
691.8, Eaema
740, Anencephaly
741, Spina bifida
742.0, Encephalocele
742J. Congenital hydrocephalus
745-7, Congenital anomalies of heart and circulatory system...
749, Qeft palate and cleft lip
750.5, Congenital hypertrophic pyloric stenosis
751.3, Hirschsprung disease, etc
752.6, Hypospadias and epispadias
754.7, '' Qubfoot
754.3, Congenital dislocation of hip
754.9, ' Congenital dislocatable hip
k
Total
Final rate' after adjustment for multiply affected individuals..
CHOICE
1952-63
1952-63
1952-63
1952-63
1952-63
1952-63
1964-73
1952-63
1974-83
1952-63
1974-83
1974-83
1974-83
1964-73
1964-73
1964-73
1974-83
1964-73
1964-73
1974-83
1974-83
1974-83
ADDITIONAL
(Single
Diagnosis)
(Multiple
Diagnoses)
N
Rate'
N
Rate'
1.202.3
37
84.6
413.7
13
29.7
22.9
6.9
3
717.7
224.0
98
413.7
78
178.3
1.844.6
39
89.1
10J46J
27
78.3
283.4
27
61.7
5,150.8 394 1 ,016.2
84.6
0
0.0
o 129.0 9 23.2
172.8
1,7
11
28.4
20.6
8
2
5.2
287.2
V9
25
724
1,6<.'9 4.929.4
30
87.0
4 S 1.291.1
"
45
130.6
9( » 2,344.6
8
20.6
174.1
<3
4
11.6
1.619.0
Sii
70
203.1
5.073.4
1,9<7
16
41.3
3.409.8
1,32!
11
28.4
1.604.3
622
12
31.0
5:6
l.:i
0
314
1:1
807
3^:6
i::4
1,9V7
:\7
15.54)
41435.3
959
2.451.7
EXPANDED
MINIMUM
N
Rate'
563
194
13
412
259
846
3,593
151
2J91
37
59
78
10
124
1.729
490
917
64
628
1,983
1J33
634
1.286.8
443.4
29.7
941.7
592.0
1.933.7
10.424.6
345.1
6,167.1
84.6
152.2
201.2
25.8
359.8
5.016.5
1,421.7
2J 65.2
185.7
1,822.1
5.114.7
3,438.2
1,635.3
16408
43,986.9
46482.6
Non.—See explanatory comment for this table in Appendix A.
' Per 1 million live binhs.
' Special HSR code
tifactorial condition under consideration. Thus those
individuals with additional disabilities are arbitrarily
not assigned to the multifactorial group, a decision
resulting in a conservative estimate of the number of
cases.
All HSR cases in which a specific etiology code had
been assigned to a condition that otherwise might
have been interpreted as multifaaorial have been
omined from the table. For example, if there was a
known genetic etiology or a known environmental
cause, conditions such as congenial hean disease, or
cleft lip and palate, have not been included. It is necessary to make a few explanatory comments about
some of the conditions, and this is done in Appendix
A.
There are two ways in which the count of multifactorial cases will be falsely low because of a simple
inherent bias in the counting process that could be
ziou
JSOH 1VH3N3D 0 I A
present wh inever a case has more than one diagnosis.
Only those cases with a single diagnosis (or with essentially th: same second [or more] diagnosis) were
counted. T. lis means that the chance occurrence of a
second nor rnultifaaorial diagnosis occurring in the
same individual would lead to omission of that case.
Similarly, t ie chance occurrence of a second, unrelated multi 'actorial diagnosis occurring in the same
individual vould mean that that person was not
counted.
Each of t lese possibilities has been examined, and
an adjusted rate has been determined. The estimate
of the multifaaorial rate should be increased by
-809.5/1 million live births, to allow for the chance
occurrence of an additional nonmultifaaorial diagnosis. In tei ms of the original "expanded minimum"
estimate of 43,986.9 multifaaorial conditions/1 million live bi ths (table 8), the double multifaaorial
frfr:60
C6/9T/fr0
�Genetic Disorden in Population
68S
Tabic 9
PrvqiMftctai of Gonocftc Unknown COMA
1952-43
Gutmc UNKNOWN
N
Single diagnosis
Multiple diagnoses
Total
469
234
703
19M-73
Rate*
N
1,072.0 294
534.9 122
1.606.9 416
197 «-83
Rare*
N
TOTAL
Raw*
N
Ratt'
»53.0 155 399.8
918
784.7
354.0
8 8 277.0
444
379J
1,207.0 243 626.8 1J62 1.164.2
' Pet 1 million lire binhs.
diagnoses contribute another 1,696.4 and the triple
another 89.8, rates that, when added to the nornnulrifaaorial rate of 809.5, give afinalestimate, for multifactorial disorders, of46,582.611 million live binhs.
4 ( ^ 5 J (COO
7. Genetics Unknown
The cases receiving this etiology code are those for
which it is evident that there is a genetic basis but in
which the precise mechanism is not clear. Some examples would be (1) an infant with a blown genetic
disorder that may be inherited as a recessive or a
dominant but for which it is not known which mechanism is responsible in that particular case: (2) samesex twins, both with the same constellation of unusual congenital anomalies; (3) several familial cases
of a disorder that may be autosomal dominant or X
linked but in which it is not clear from the pedigree
which is responsible; or (4) sibs with a similar pattern
of retardation and physical anomalies. Ideally these
cases would be individually studied and, if at all pos-
sible, assigned to categories in the hierarchy of categories discussed aoove. This is not possible, as more
than 1,300 cases are involved. Rather than being
omitted from a consideration of genetic load in the
population, they ; re included in table 9.
8. Congenitof AnomiiKes
As explained curlier, in this analysis congenital
anomalies were not considered as parr of the hierarchical system, since they are, by definition, related
less to etiology than to dme of appearance. However,
since many other smdies have included all congenital
anomalies in deternining genetic load, data on congenital anomalies re presented here. Table 10 summarizes the infora: ation for conditions having ICD
numbers within thi: congenital anomaly range—i.e.,
740.0-759.9—and that have been included in the
categories considei rd in our study. The overall rate ,
for congenital ano naly cases having a genetic etiol- 1
ogy of some kind was 26,584.2/1 million live births, \
2. (. . 5 / /OOQ
Tafale 10
C a n o n i c a l Anomaiias (740-759) with Spadflc Canatte Ettolcgy
1952-63
CONGINITAL ANOMAUIS
Dominant conditions
Receuive conditions
X-linked condibons
Autosomal chromosome conditions
Sea-chromosome conditions
Multifactorial oondinons
Genetic unknown
Total
N
202
52
10
586
64
247
Rate'
1964-73
N
Rate'
1974-83
N
461.7 198
574.5 181
118.9
71
206.0
74
22.9
13
37.7
20
1,339.4 524 1,520.3 533
146.3
39
113.2
33
564.6
176
510.6
m
Rate'
TOTAL
N
Rate'
SUM (%) or
HIGHEST
INDIVIDUAL
RATES
741J
290J
66.4
1.693.1
152J
23.076.0*
564.6'
460.7
466.1:
581
496.6
190.!'
197
168.4
51.(
43
36.8
U74.1 1,643 1,404.4
85.1
136
116.3
299.2
539
26.584.2
2.8
1.1
0J
6.4
0.6
86.8
2.1
100.0
* Per 1 million live births.
Different from that in table 8 because the number indudes, in addition, conditions outside he 740-759 range.
Sum for the decade (1952-63) showing the highest rate.
k
c
eio®
dO nvaaNao DIA
SH
TSefr
LZL * 0 9 O
Sfr:60
C6/9T/frO
�686
Baird et a).
Tabic 11
Confanfeai AnomallMi Total O l i t n o M * by ICO Cataiai-; 74»-TI»
1952-63
ICD9, CONGENITAL ANOMALT
l 740, Aneneephily
i- 741. Spina bifida
•S 742.0, Encephalocele
t( 742J, Congenial hydrocrphalui
5 740-2/Other nervoui fyitem ditorder
y 743, Eye
-[ 744, Ear. face, neck
% 745-7, Hean and droilation
^ 748, Reapiratory
id 749, deft palace and deft lip
750.5. Pyloric srenoai*
n.75lJ,Hinchapnitigdiaease,etc
l } 750-1, Other digewive lyjtem diaorder
(•f 752.6, Hypoipadiai and epitpadiai
,j- 752-3, Other genito-urinary disorder
.fr 754.7.' Clubfoot
•1 7544/Congenital dislocation of hip
'« 754.9, Congenital dislocatable hip
(1 754-6, Other muscuio-skeletal disorder
>o 757, Integument disorden
» 758, Chromosomal anomalies
•».759, Other
1
<
Total diagnoses
Total cases
1964-73
N
Rite"
74
377
12
182
158
382
158
1,981
38
812
38
16
212
174
421
1,065
313
4
1.255
227
665
_137
169.1
861.7
27.4
416.0
361.1
873.1
361.1
4428.0
86.9
1,856.0
86.9
36.6
484.6
397.7
962.3
2.434.3
715 4
9.1
2.868.6
518.9
1420.0
313.1
8.701
7.065
19.887.8
16.148.4
N
60
267
26
273
268
507
626
3,628
748
757
900
81
667
788
2.866
1,896
1.109
23
2056
678
574
248
18.671
14.707
1974-83
Rate*
174.1
774.7
75.4
792.1
777.6
1,471.0
1.816J
10426.2
2.170.2
2.196J
2.611.2
235.0
1,935.2
2086.3
8415.3
5401.0
3017.6
66.7
6.5454
1.967.1
1,665,4
719.5
TOTAL
Rate*
Rate*
19
2(1
229.6
673.2
118.6
<;
895.0
34'
9594
37::
1455.3
60.:
85 : 2O13.0
5.07. 13,084.7
1,929.3
741!
2,086.6
80!'
1.06;: 2,741.8
229.6
8!'
3.293.7
1.27"/
2453.5
99C
8.689.6
3,369
6.948.6
2.694
4,418.3
1.713
2,009.3
779
8,411.0
3.261
3.004.9
1.165
1,624.9
630
1.093.6
424
223
905
84
802
798
1.492
1,642
10.682
1,534
2478
2,001
186
2,156
1,952
6.656
5,655
3,135
806
6,772
2,070
1.869
809
190.6
773.6
71.8
685.5
682.1
1075.4
1,403.6
9,130.9
1411.3
2.032.7
1.710.4
159.0
1,842.9
1,668.6
5,689.5
4,833.9
2,679.8
689.0
5,788.7
1,769.4
1497.6
54,171.4 26.660
42,670.4 20.474
68.763.6 54.032
52.808.2 42046
46.186.2
36.111.6
6914
* Per 1 million live births.
* All conditions in 740-2 not listed separately in the able.
' Spedal HSR code.
or 2.7% of live births. If all cases of congenital anomaly are considered, including those to which no genetic etiology has been attributed in this study, the
combined rate of congenital anomalies in the decade
having the best ascertainment was approximately
twice as great, i.e., 52,808.2/1 million live births, or
5.3% of live births. This result is shown in table 11,
which summarizes all congenital anomalies in ICD
category 740-759. If inguinal hernia is added,
—6.1 % of live boms in our population in the most
recent decade had a congenital anomaly, compared
with a figure of 7.2% for recent Hungarian data.
These data are shown in table 12.
The average number of diagnoses per case has risen
during the years—but not substantially given the
great increase in the number of diagnoses that can
now be listed. Thus there were 1.23 diagnoses/case in
the 1952-63 period, 1.27 in the middle period, and
i .30 in the last. For the three decades the number of
ases as a percentage of total diagnoses was 81%,
*T0t
79%, and 77%, respectively. As a very crude first
step, the percentage of to al diagnoses might therefore be adjusted downward to -80%, to give a rate
reflecting a case rate.
9. Effect of Pregnancy Temw/iotfon
In utero diagnosis of generic abnormality has become increasingly common in recent years, and this
could bias the estimates of genetic defect in live-bom
children, since a positive ta t may lead to termination
of the pregnancy. The potential impact has been calculated from the records c f the Provincial Prenatal
Diagnosis Program. Only tlie birth period 1974-83
would be affeaed; and the stimates of incidence arrived at earlier in this repor: are based mainly on the
first and second birth periods. Also, not all the affeaed fetuses daeaed in tlie program would have
survived to be bom alive.
The calculated impaa of pregnancy terminations
on the rates in this study hus been extremely small;
JSOH 1VH3N33 01A
T6Cfr LZL
fr09O
:
9f 60
E6/9T/frO
�Generic Disorden in Population
687
Table 12
C o m p a r i n n of IncManc* of VariotM Owganltal Anomaltaa In T V a a S t u d t e withm t Exchotan of Nonfanadc C u a
INI I D I M C I rex 1,000 U v i BIRTHS
Sririih
Preitnt Study
Columbia
Hungary
(All Cai«)
IC09, T Y M or AHOMALY
740-742, Central nervous system
743, Eye
744, Ear, face; neck
745-747, Heart and drcwlatory system
748, Respiratory system
749, Qeft palate and deft lip
750-751, Disorders of other parts of digestive system
752-753, Urogenital system disorder
2.2
0.3
0.5
7.9
0.3
U
2.8
9.1
754-756, Musculoskeletal system disorders
31J
757, Integument disorders
758, Chromosomal anomalies
759, Other
0.7
1.3
2.0
740-759, Total
550. Inguinal hernia
553. Umbilical hernia
227-228 (1CD8), Congenital tumors
1'167-69
(AICaj«)
i|
1952-63
1964-73
1974-83
1.5
0.7
0.3
3.6
0.1
1.5
0J
1.1
2.1
1.2
1.5
8.4
1.7
1.8
3.8
8J
2.3
1.2
1.8
10.5
U
1.7
6.3
9.0
6.6
4.8
12.3
17.4
0.2
1.4
0.2
0.4
1.2
0.3
1.6
1.3
0.6
2.4
1.3
0.9
42.7*
2.1'
52.8*
7.9'
1.:'
0. ::
0..
4..!
OJ:
1.1
l.i
2.8
h
( A
d
59.7
11.0
0.9
0.1
16.2'
0.02'
...
...
...
71.7
Grand total
22.2'44.8 )
0.1
0.3
1.0
23.6'i »6.2')
16.2'
44.8'
60.7'
* Most of these rates are based on roial diagnoses—and therefore have been adjusted dowi ward by a facror of 0.8 (see text).
* Incidence would be 5.5 if conpenital dislocation of the hip were excluded.
* Based on actual cases, and nor adjusted.
* Adjusted for underestimation.
for cases, the maximum incidence of terminations
would be 0.027% (details available on requestlf
Discussion
Confenftof Anomalies
Many studies have treated congenital anomalies
defined by ICD codes 740-759 as being all of "potentially genetic or partially genetic" origin. However, this is nor an etiological category bur a convenient and important grouping of conditions that are
quite heterogeneous in their causations. The present
records of the HSR make it possible to identify those
cases within the congenital anomaly group that were
thought to have a genetic etiology. This is a considerable advance because many earlier studies did not
attempt to quantify the relative importance of the
genetic versus the nongenetic categories within the
broader "congenital anomalies" grouping.
On the basis of data in the congenital anomaly
section, it is possible to analyze how many of the
registered individuals suffer from conditions that are
910®
included in the generic categories defined above. In
the present study o msiderable effon was devoted to
counting only thosi: cases for which there was believed to be a signficantgeneric component in the
causation. All other cases have been excluded from
the data so that, in t given binh cohon, frequencies
of congenital anomalies as pan of the genetic load
have been reducer accordingly. This reduction
should not be conl ased with failures to ascertain
cases.
It is misleading to compare ourfigureson congenital anomalies c f genetic etiology with those
obtained by Trimbli: and Doughty (1974). This is
because Trimble aid Doughty categorized all
congenital anomalies as being panly generic. They
therefore did not attempt to separate the genetic category of congenital am malies, as we have done. In the
present analysis we 'lave first counted 22 selected
multifactorials (46,58,1.6/1 million live binhs). In rhis
selected group, conge nital anomalies occurred at a
rate of 21,790.4/1 million live binhs. Some congenital anomalies are included in the other categories in
asoH ivaaiiao OIA
T6Efr LZL M>9©
iV-60
C6/9T/*0
�688
Baird et al.
TabU 13
I n d d n c a a l G a m d c ar Partially Oanadc Olaaaaaa par 1,000 Uva Urtht
According to Varloua ftapora
BamSH
COLUMIIA
\967-i9
STUDY
Piuurr
STUDY
(1952-83):
I^'SCEAR Kirovn
SUM OF
Disixii CATEGORY
Dominant*
X linked
Reran ve
Qiromotomai:
Numerical
Structural
Multifactorial:
Congenital
Other
Genetic unknown
Total*
Minimal
Adjuitcd
0.6
0.3
0.9
0.8
0.4
1.1
1.6
H I C H U T RATES
.—.
1982
1966
.977*
1986
1.4
0J
1.7
10.0
10.0
10.0
10.0
2.0
1.1'
ZJ
2.5
2.0
...
1.9
...
4.0
...
4.0
4.0
3.4
0.4
36.0
16.0
43.0
47.0
23.1
23.9
1.2
25.0
15.0
0.0
90.0
"0.0^
55.0
94.0
53.2
56.0
115.0
107.0
106.0
* The values used in the report of the BEIR committee in 1980 (8) were essenri.illy identical to [hose in
the 1977 UNSCEAR repon.
The figures from the UNSCEAR reports include autosomal and X-linked ilominana.
' The change from 1.1 to 2.5 was made by UNSCEAR to indude those disord: rs whose muranr genes
are maintained by hcteroiygous advanrage.
Indudes congenital anomalies and other multifactorial disorden.
' The sums are not exact owing ro rounding.
b
6
our hierarchy. However, in our estimate of genetic
load, in total we have excluded from consideration
approximately half of all congenital anomalies,-as
being of unknown cause; they have not been counted
as genetic As well, some congenital anomalies were
not counted as genetic by us because they had an
identifiable environmental cause.
Table 12 shows a comparison of our data on all
congenital anomalies (without the division into genetic and other etiology) with those from the previous analysis of British Columbia data and with those
from a recent analysis of Hungarian data (Czeizel
and Sankaranarayanan 1984). For ease of comparison, in this section the data are expressed per thousand rather than in the per-million-live-births form
used in previous secnons. Data from a U.S. study
(Myrianthopoulos and Chung 1974) and from UNSCEAR (1982, pp. 543, 546; 1986) are also available but they are expressed in somewhat different
terms. In table 12 the Hungarian and earlier British
Columbia data are expressed as frequencies of all live
births with one or more congenital anomalies, listed
by ICD category. The rates in the "present study"
column indude ail cases of congenital anomalies.
t
910®
Note that a crude ai justment factor of 0.8 has been
applied to the presem -srudy data in the table to make
the rates more comparable with case rates, since the
number of cases in < ach birth period was -80% of
the total number of diagnoses.
Thus it can be se.:n that much of the difference
between the earlier ;ind the present analyses of the
British Columbia dai a (table 13, "congenital" category) is due to our dedsion to exclude (as not genetic
or panly genetic) a | roportion of the cases of congenital anomalies.
Influence of Age at Onrnt of Severity of Symptoms
Most of the registiants in the earliest (1952-63)
period of the present study would have reached an
age of -25 years by he end of the HSR updates in
1983, but the later c shorts are younger. This faa
creates a serious undei estimation of those generic diseases whose onset and potential diagnosis occur later
in life. At the momert, this underestimation is believed to be most ser ous in the case of dominant
genetic conditions (tab e 2), many of which have their
onset in adult life. Twi examples of these are cited in
Appendix B. Overall, tne total incidence of dominant
dSOH IVHaNHD DIA
16C»
LZL 1-090
8*.60
EB/9T/fr0
�689
Genetic Disorders in Population
diseases, including those of late onset, is believed to
be -7/1,000 live births (Trimble and Smith 1977;
Vogel and Motulsky 1986).
The present study of the incidence of dominant
conditions in the HSR is providing higher numbers as
the initial cohort grows older (table 2); however, it is
important to note that the present study does not
provide good incidence data on genetic disorders
having an older age at onset, a category that includes
many dominant conditions.
Although a complete listing of all dominant disorders is required for assessment of the impaa on the
health of the general population, the dominant disorders of major importance for assessment of the effea
of increased mutation rates are those of early onset,
which are included in tables 2 and 13. The most common dominant disorders having late onset are not
maintained by high mutation rates; investigators
were, for example, unable to find a single clear case
of a new mutation among several thousand Huntington chorea patients (Vogel and Motulsky 1986). New
mutations are believed to be responsible for most of
the cases of dominant disorders (e.g., achondroplasia) having severe effects on the health of children.
The United Nations scientific committees used the
adjusted values for incidence of recessive disorders in
the earlier British Columbia study as the best estimate
available in 1977 (table 13). This estimate was later
increased from 1.1/1,000 live births to 2.5/1,000 live
births when disorders whose mutant genes are maintained by heterozygous advantage were included.
This increase is supported by the present study's unadjusted value of 1.7/1,000 live births.
Similar problems of incomplete ascertainment apply to the present data on disorders attributed to
changes in chromosome number (tables 5, 6). The
rates for chromosome anomalies observed by surveys
in the literature (Hamerton et al. 1975; Jacobs 1978)
are higher than those observed by the HSR. The rates
published refer to consecutive series of individuals
tested and can be expected to be higher than those
recorded in the HSR. This is to be expeaed, since
underascertainment by the HSR is likely for many
cases of less obvious chromosome anomalies (e.g.,
deletions) and for individuals who die prior to testing. The recorded values for Klinefelter syndrome are
undoubtedly much too low; the true incidence should
be at least as high as that for Down syndrome (UNSCEAR 1977, pp. 514-523; Vogel and Motulsky
1986). The low incidence recorded for Klinefelter
syndrome in both studies of British Columbia data
probably refleas the less severe nature of the health
problems associated with Klinefelter syndrome as
compared with Down syndrome. The fraction of all
cases brought to the attention of diagnosing physicians will be much smaller in the case of Klinefelter
syndrome than in that of Down syndrome. As will be
noted below, this underestimation of chromosomal
diseases probably has little significance for assessment of the genetic efferts of exposure to low doses
of radiation or other mutagenic agents, since these
exposures are thought to produce little or no increase
in the rate for genetic disease attributable to changes
in chromosome number (UNSCEAR 1982, pp. 543,
546; 1986).
The incidence of diseases in the multifaaorial category given in reports of international and national
scientific committees since 1974 (table 13), is the adjusted incidence obtained in the first analysis of the
HSR British Columbia data. In the comparison
shown in table 13, it should be remembered that, by
definition, approximately half of the cases of congenital anomalies in the present study have been excluded from thefiguresshown for the multifaaorial
category, as not being of genetic or partly genetic
etiology.
The results of the present analysis provide the basis
for an improved estimate of the incidence of the genetic or partially genetic diseases having serious
health consequences in children and young adults before age 25 years. The definition of "genetic or partly
genetic" used in the present study leads to a lower
number of congenital anomalies being included in the
data. The incidence of genetic diseases having minor
health consequences and the incidence of genetic diseases having late onset in life cannot be estimated
from the present data. However, the results of the
present study provide valuable information on the
incidence of genetic disorders in children and young
adults.
Relevance to Assessment of Health Hazards
of Mutagenic Agents
Dominant mutations (table 2), together with Xlinked mutations (table 4), are usually considered to
provide the most important contribution to any increase in genetic diseases that results from exposure
to environmental mutagens. Contributions from
autosomal recessive mutations (table 3) are smaller
and would not be evident for many generations
(Searle and Edwards 1986). Current thinking suggests that genetic diseases attributable to alterations
�Baird et al.
690
in chromosome number (cables 5, 6) would not be
increased appreciably by exposure to low levels of
radiation or other environmental mutagens. Small increases in incidence of genetic disorders would result
from induced changes in chromosomal structure, notably unbalanced translocations. Diseases attributable to these structural chromosomal anomalies may
be of diverse nature and do not appear to be restricted to particular ICD categones.
Evaluation of the contribution from partially genetic disorders (tables 7-9) represents a continuing
problem, which will presumably not be solved in the
near future. In the first place, it is uncenain how the
incidence of these multifaaorial disorders would be
affeaed, if at all, by an inaease in normal rates of
mutation. The UNSCEAR reports (UNSCEAR 1977,
pp. 514-523; 1982, pp. 543,546) have assumed that
~5% of these multifaaorial diseases will respond to
increased mutation rates in a manner similar to that
of monogenic dominant diseases. On the other hand,
the 1980 BEIR repon assumed a mutational component of 5%-50%. The differences in these assumptions can result in considerable variations in the relative importance of multifaaorial diseases when any
assessment is made of the potential health hazards of
environmental mutagens.
A second problem is the incidence of multifaaorial
disorders over the whole life span of the population.
Although the value of 90/1,000 live binhs for all
multifaaorial disorders (including congenital anomalies) in children has been widely accepted (table 13),
this value would be inaeased to -600/1,000 if multifaaorial disorders of late onset (e.g., thyrotoxicosis,
adult diabetes, psychoses, hypertension, myocardial
infarction, and ulcers) were included (UNSCEAR
1986). Inclusion of cenain cancen would further increase the total incidence of multifaaorial diseases.
Despite these uncertainties, multifaaorial diseases
that become evident in children or young adults (tables 7-9) would continue to have the largest personal
health impaa in terms of yean of life lost or yean of
impaired life.
Some well-organized population-based registries
are quite effective at registering young people who
are actually sick or handicapped. For the purpose of
assessing genetic harm to health, these individuals are
particularly relevant. What is not generally recognized is that the omission of "cases" who are not
noticeably affeaed helps, rather than hinden, assessment of the actual harm that is due to genetic disease.
In the present data, the further exclusion of individ-
810®
dSOH
01A
Tabic 14
fnqumntim of ' i n t k Dhordar* In I,l«f,l73 Births,
ifU-ai
Raw per
1 Million
Live Binhs
C tegory
% of Torsi
Births
A.
Dominant
Recessive
X linked
Chromosomal
Multifactorial
Genetic unknown
1J95.4
1.655J
532.4
1,845.4
46482.6
1,164.2
53.175.3
Total
0.14
0.17
0.05
0.18
4.M
0.12
5J2*
B.
All congenital anc nalies 740-759.... 52.808.2
Congenital snoma ics with genetic
etiology (indudrd in section A
shovel
26.584.2
5.28
2.66
C.
Disorders in secno i A (above) plus
those congenital anomalies not
already included
79,399.3
7.94
' Sum is not exa.t owing to rounding.
uals with congirnital anomalies when there is little
evidence of a genetic or polygenic component in the
causation repre ents an additional refinement.
In summary (ice table 14), it is conservatively estimated that -53.0/1,000 live-bom individuals can be
expeaed to hav,; genetic or partially genetic diseases
before age 25 ye in. Single-gene disorden are responsible for »3.6il,000, chromosomal disorden for
»1.8/1,000, ami multifaaorial for by far the greatest
number, i.e., »*\6.6/1,000. In the present study congenital anomalies as an entire group have not been
included in this total estimate of genetic load. Only
those congenital anomalies for which there is evidence of single-f ene, chromosomal, or multifaaorial
causation have 1 een included.
Data are also presented separately on all congenital
anomalies in thi: present study. In the most recent
birth period (19 '4-83), 52.8 congenital anomalies/
1,000 live binhs have been observed. Approximately
half of this figure has not been included in our genetic
load figure, in < ontrast with the practice in most
other studies. 1 all congenital anomalies (-52.8/
1
1,000) were to bi; included in the estimate of genetic
m »
LZL * 0 9 O
0S:60
C6/9T/frO
�Genetic Disorden in Population
691
Hinchsprung having mulrifaaorial etiology. Although a funher 7 % of cases of Hinchspring disease
had local regional anomalies, it was felt that these
had occurred secendarily ro the local bowel dilatation. Thus, thos< cases with associated regional
Acknowledgments
anomalies have be :n included in the count of those
individuals having multifaaorial conditions (Spouge
This study could not have been carried out without the
and Baird 1985).
enthusiasm and hard work of the staff of the HSR, apeIn a recent HSF. study, the incidence of isolated
dally E. MacOonald and Soo Hong Uh, under the leadership of A. H. Hcrsotn, Direaor, Vital Statistics. We also hypospadias in thi: province during 1966-81 was
thank Dr. A. M. Marko and his colleagues in the Health found to be 3.55/1,i)00 live-bom male infants (Leung
Sciences Division, Chalk River Nuclear Laboratories, (or et al. 1985). Cases with additional anomalies were
their interest, encouragement, and assistance. In parricular included in that sn dy, but the main reason for the
we would like to acknowledge the important contribution
much lower rate (1.8/1,000) found in the present
of Dr. D. K. Myers, who hat provided valuable support and study is, of course, i hat in the present analysis we are
advice to this project since its inception. We thank the
using total live bims—rather than male live binhs
Atomic Energy Control Board for support to carry out this only—as the denon inator.
study.
From an earlier study (Trimble and Baird 1978) for
the period 1952-7; we know that the overall inciAppendix A
dence of anencepha y was 0.6/1.000 binhs and that
that of spina bifida vas 0.8/1,000 binhs. Therefore,
MuMfactortal Conditions
the rates given here or anencephaly and spina bifida
are very low estimates because of the conservative
The HSR has coded congenital dislocated hip and
case-acceptance method used for including cases in
congenital dislocatable hip to 754.3 and 754.9 rethe multifaaorial category. Any case with any kind
speaively. The latter is not a standard ICD9 code but
of additional anotn; ly, apan from adrenal hypera special code used by the HSR. Since it is likely that
plasia, was, by defii ition, excluded from the multhe "dislocatable" category may also have a multifactifaaorial category.
torial etiology, these cases have been included in
tables 7, 8, and 11. The HSR also has a special interSince some degree of mental retardation is a frepretation of the clubfoot category. Cases normally
quent complication or hydrocephalus, cases of hydrocoded in 1CD9 to 754.5, 754.6, and 754.7 are all
cephalus have been at cepted as multifaaorial if retarcoded to 754.7. This, then, is felt to reflea the numdation is present as veil. Since premature binh may
ber of individuals with clubfoot of different kinds.
be a causative factor (f intracranial bleeding and consequent hydrocephalus, those cases in which premaSince malocclusion is such a common concomitant
turity was present have been omined from table 8, as
of cleft lip and palate, it was felt justifiable to treat
being better not considered as multifaaorial in etiolindividuals with both these disorden as still having a
ogy.
multifactorially determined condition, and they have
been included in the "expanded minimum" estimate
It was decided thst it was appropriate to treat
in table 8. Similarly, in the category of congenital
those cases of border! nc or mild mental retardation
hean disease, even if more than one heart malformathat had no other mall ormations or disorden as multion was present, it was still felt appropriate to assign
tifaaorial in etiology. It is probable that a proportion
the case to the category of multifactorial, provided
of cases assigned to thi so-called moderate or unspecthat the case had no additional malformations coded
ified categories should ilso appropriately be added to
outside the heart-malformation section. Individuals
the multifaaorial tabic, but what this proportion is is
with asthma or atopic eczema are likely to have the
difficult to estimate. Ii: is felt that the conservative
same general allergic diathesis, and thus individuals
approach of not including these in the multifaaorial
having both or either condition are included in tables
category is the more appropriate approach.
7, 8, and 11.
Diabetes mellitus is; Iso a very difficult category to
assignrigorously.Any cases associated with known
Approximately 25% of the patients with Hinchspecific cause, e.g., di ibetes mellitus occurring in
sprung disease had nonregional anomalies and thus
Klinefelter syndrome, I ave been omined from tables
have been omined from the total for cases of
load, then, in total, the frequency of genetic disorden
in the populanon less than age 25 yean would be
-79.4/1,000.
810®
dSOH 1VH3N33 01A
T6C» LZL »09O
1S:60
C6/9T/*0
�Baird et al.
692
7 and 8. It is recognized that diabetes mellitus is a
heterogeneous' group; in that the juvenile-onset and
adult-onset types are likely to have different genedc
components to their etiology. In our present snte of
knowledge it is felt that the majority of diabetes mellitus cases of unknown cause are likely to have a
genetic component; and they were included in this
cable of multifactorial conditions. Further, none of
the cases in this study would be more than age 32
yean by. the end of 1983.
Epilepsy is also a difficult category to interpret;
and it is likely that heterogeneity exists in this disorder. However, since there is undoubtedly a generic
component to this disorder, it was felt appropriate to
indude this group in the "mulrifaaorial" load if no
spedfic cause for the epilepsy had been identified
Appendix B
Undanucertainmcnt of Dominant Conditions
In the present analysis Huntington chorea (ICD
333.4) was found to have an inddence rate of 16/1
million live births for penons in British Columbia
born between 1952 and 1963, with zero inddence
being reported for live births in more recent decades.
The average age at onset of Huntington chorea is 4 1 45 yean; only - 3 % of all cases are diagnosed before
age 25 yean (Vogel and Motulsky 1986). Thus the
actual inddence of Huntington chorea ovet the
whole population of ail ages is doser to 400/1 million
live births than to 16/1' million live births (Trimble
and Smith 1977; Vogd and Motulsky 1986). Another example is monogenic familial hypercholesteremia (included in ICD 272). The inddence of all cases
reported under ICD 272 in the present study was
<40/l million live births; the true inddence of dominant hypercholesteremia is believed to be doser to
2,000/1 million live birthi when cases diagnosed after
age 25 yean are induded (Trimble and Smith 1977;
Vogel and Motulsky 1986).
References
Baird, P. A. 1983. Neural tube defects in the Sikhs. Am. J.
Med. Genet. 16:49-56.
. 1987. Measuring birth defects and handicapping
disorders in the population: the British Columbia Health
Surveillance Registry. Can. Med. Assoc. J. 36:109-111.
Baird, P. A., and E. C. MacOonald. 1981. An epidemiological study of congenital malformations of the anterior
020®
dSOH IVHHNHD DIA
abdominal wall n more than half a million consecutive
livebirths. Am. J Hum. Genet. 33:470-478.
Baird, P. A., and J. R. Miller. 1968. Some epidemiological
aspects of Dowr syndrome in British Columbia. Br. J.
Prev. Soc Med. 12:81-85.
Baird, P. A., and A. D. Sadovnick. 1985. Mental retardation in over half i million consecutive livebirths: an epidemiological stui y. Am. J. Ment. Defic 89:323-330.
. 1987. Life expectancy in Down syndrome. J. Pediatr. 110:849-85 I.
Czeizel,
and K. Sankaranarayanan. 1984. The load of
genetic and parr illy genetic disorders in man. I. Congenital anomalies: estimates of detriment in terms of
yean of life lost ind yean of impaired life. Mutat. Res.
128:73-103.
Hamerton, J. !_ N. Canning, M. Ray, and S. Smith. 1975.
A cytogenic survey of 14,069 newborn infants. 1. Incidence of chromosome abnormalities. Clin. Genet.
8:223-243.
Health Surveillance Registry: annual report 1981. 1981.
Division of Vital Statistics, Ministry of Health. Province
of British Columl ia, Victoria.
Jacobs, P. A. 1978. Epidemiology of chromosome abnormalities in man. . un. J. Epidemiol. 105:180-191.
Leung, T. J., P. A. E lird, and B. McGillivray. 1985. Hypospadias in British Columbia. Am. J. Med. Genet. 21:4352.
Lowry, R. B., D. C Jones, D. H. G. Renwick, and B. K.
Trimble. 1976. Down syndrome in British Columbia,
1952-73: inddet ze and mean maternal age. Teratology
14:29-34.
Lowry, R. B., J. R. Miller, A. E. Scott, and D. H. G. Renwick. 1975. The British Columbia registry for handicapped children und adults: evolutionary changes over
twenty yean. Can. J. Public Health 66:322-326.
Lowry, R. B.. N. Y. Thunem, and M. Silver. 1986. Congenital anomalies n American Indians of British Columbia. Genet. Epide nioi. 3:455-467.
Lowry, R. B., B. Tu :hler, W. H. Cockcroft, and D. H. G.
Renwick. 1972. 1 iddence of phenylketonuria in British
Columbia, 1950- 71. Can. Med. Assoc. J. 106:12991302.
Lowry, R. B, and B. K. Trimble. 1977. Inddence rates for
cleft lip and pala e in British Columbia, 1952-71, for
North American Indians, Japanese, Chinese and total
populations: secu ar trends over twenty years. Teratology 16:277-283.
Myrianthopoulos, T . C , and C. S. Chung. 1974. Congenital malformation in singletons: epidemiological survey. Birth Defects 10:1-58.
Renwick, D. H. G. 1968. The combined use of a central
registry and vital records for inddence studies of congenital defects. Br J. Prev. Soc Med. 22:61-67.
Searle, A. G., and J. H. Edwards. 1986. The estimation of
risks from the ind.iaion of recessive mutations after ex-
T6C» LZL
fr09©
ZS-60
£6/91/1-0
�Genetic Disorders in Population
posure to ionising radiation. J. Med. Genet. 23:220226.
Spouge, D., and P. A. Baird. 1985. Hirschsprung's disease
in a large birth cohort. Teratology 32:171-177.
Trimble, B. K., and P. A. Baird. 1978. Congenital anomalies of the central nervous system: incidence in British
Columbia. Am. J. Med. Genet. 2:1-5.
Trimble, B. K.; and J. H. Doughty. 1974. The amount of
hereditary disease in human populations. Ann. Hum.
Genet. 38:199-223.
Trimble, B. K., and M. E. Smith. 1977. The incidence of
genedc disease and the impaa on man of an altered mutation rate. Can. J. Genet. Cytol. 19:375-385.
UNSCEAR report: genedc and somatic effects of ionizing
radiation. 1986. United Nations, New York.
UNSCEAR: Ionizing radiation: sources and biological ef-
693
feas. United Nations Scientific Committee on the Effects
of Atomic Radiation. 1982. Report to the General Assembly with annexes. United Nations, New York.
UNSCEAR: report of the United Nations Scientific Committee on the Effects of Atomic Radiation. 1966. General Assembly Official Records, 17th Sess., Suppl. 16 (A/
5216), United Nations, New York.
UNSCEAR: sources and effects of ionizing radiation.
United Nations Scientific Committee on the Effects of
Atomic Radiation. 1977. Report to the General Assembly, United Nations, New York.
Vogel, F., and A. G. Motulsky. 1986. Human genetics:
problems and approaches. 2d ed. Springer, New York.
Wilson, R. D., and P. A. Baird. 1985. Renal agenesis in
British Columbia. Am. J. Med. Genet. 21:153-165.
�FROM:UMAB HUMRN GENETICS
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Epidemiology of Sentinel Birth Defect*
in Maryland, 1984
MVIN J. KHOURY MD. ALYSB WBmSTBW MA. SUSAN A. PANNY MD,
NB1L A. HOLTZMAN MD, PAMBLA K. LINDSAY PD, F. JEAN WABTHSN PhD,
NANCY A. STREET BA, MARION O, ROBERTSON MA,
KATHERINB P. FARRBLL MD, and MAX EISENBSRQ PhD
The Maryland Birth Def«ot« Reporting unci Information System (BDRIS), * monitoring program in operation since September 1983, seeks to wtabltsh inoldonoe rates
of 12 sentinel dcfato in Maryland, to monitor their trends in relationship to environmental hoiardB, and to inform families of nffooted infants about available modloal and
social services. Through a mandatory reporting law, BDRIfi ascertains the defeete
diagnosed at birth among live and stillborn infants. Although In 1984 the completeness
of reporting of such defecto was better than that of vital record* (birth and fetal death
oertinoates), at leaat 20 pereeut underreporting exists, espedally in the National
Capital area, where many casea are lost to DC hospitals. We hope this article will
remind the Maryland medical community to fulfill its obligations in reporting sentinel
defects. With improved reporting, BDRIS data can be useful In the Identification of
environmental and occupational teratogens especially if used In con}«notion with the
Maryland Toxic Substances, Oooupational Disease, and Cancer Registries.
Khoury I* n w •( the Ctnur for Ktiviroiinwnul Hoallh, CUC, and abroad has been greatly stimulated by the growing
o
AlUftU. WtiMttin, LlndMy, Slimt, Fumll, and ghufofg an w * concerns about possible teratogenecity of drugs, and of
M
lh« Sci«nM and Health Advisory Croup, MwyUnd DHMH. P»nny
•D4 RpbeiUon an wjih lh* Division of Hereditaty Disordert, Mary- environmental and occupational exposures during preg1
IBIMI DHMH. HolUnun it in the Dapattmenl of Pedistrtel, Hit nancy. These concerns are reflected in the legislative
John* Hopkliw HoupKitl, and Wnrlhcn I* it th. Cenltt fm Healih activities in many slates in the United States to estabswtuttea. Muryland DHMH.
lish local monitoring programs. At least 11 states have
RcprinU: RcitnM and Health Advisory Oraup, Maryland D* passed laws either requiring reporting of birth defects
pirtment of Ho.!* and M.nUl N^itn*, 301 W. Praton SL, BlIUmore. MD 21201. Correspondancat Di. 8u«an Panny, Division ot or giving state agencies access to medical records.'
Heiodilsry DMordvm Maryland Department of Hoallh and Menial This article sumtnamea data from the newly estabHyticne, 201 W. PrNlonftt.,dalUmore, MD 21201.
lished Maryland Birth Defects Repotting and Infor-
Following (he thalidomide tragedy, birth defect* mation System (BDRIS), in operation since September
monitoring programB (BDMP) proliferated in many of 1989. We report patterns of occurrence of 12 tentinel
parts of the world, including the United States.' In defects throughout Maryland by relevant demographic
1967, the Centers for Disease Control (CDC) started a variables as well as efforts to assess the completeness
BDMP in Metropolitan Atlanta and in 1974 initiated of ascertainment of defects by the Maryland regbtry.
the first nationwide monitoring system.* Both systems
have been used by CDC to monitor regularly snd
Method*
systematically the births!of malformed infants for
changes in incidence or other unusual patterns sugges- The Maryland BDRIS, established by the Maryland
tive of environmental influences."* In addition, the General Assembly in 1998, began data collection in
Atlanta system has been uaed as a case registry for September 1983. The purpose of the law wae to estabfollow-up epidemiologic and genetic Investigations of lish a mechanismforthe reporting ofU sentinel defects
the etiology of congenital malformatione."* In 1974, the to determine their incidence in the Maryland populaInternational Ctcsringhouse for Birth Dsfocta Monitor- tion,todevelop procedures to monitor trends in rates
ing Programs (1CBDMP) was created" as "a communi- of these defects in relation to environmental hazards,
cation network to share information about changes in and to make available to famlliea of affected infants
ths incidence of specific birth defects, the appearance information on the defect* and the services that can be
of suspected teratogens, and other intelligence relevant provided.
to the detection and investigation of possible outbreaks The 12 defects reported lo BDRIS are anencephaly,
of congenital malfonnetlons."' ICBDMP has been pool- spina bifida, hydrocephalus, cleft lip with or without
ing data from at least 22 countries and was used for cleft palate, cleft palate, esophageal atresia/tracheoseveral collaborative studlea of teratogenic agents.' In esophagealflstula,rectal/analatmla, reduction and
1979, the BUROCAT project was started to establish deformities of the upper limb, reduction and deformities
registries of congenital malformations in each country of the lower limb, hypoepadias, congenital dislocation
in the European Economic Community*
of the hip, and Down syndroms. This list of birth
The tremendous interest in BDMP in this country defects was chosen by the World Health Organisation
vol ee.No io MMJ Bit
3
�FROfTUMPB HUMAN GENETICS
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tt571
P. 11
(WHO) because they usually can be duisnosed at birtb. Infant* born in Maryland but whose parents do not
fc!!» lt2L f
V
^ ^
T '
Mwytand « • excludad froni this .iiysi.
because there is a name for each of these defecta In Likewise, infants with sentinel defect, born outside
SfflrSSJf? ^ . V . * " ^ " " ^ ^ t u n t Maryland, whoM parents reside in Maryland, are not
The CBDMP collects data on Uiis (freup of defects." included since thete Is marked underreporline of such
t S S ? i h T ! ^ 5 :u ri ' T ? J ? '
'
««»rtrt^ that 285 infents JLre bom
~fll5 « 5
S
,i
^ ' f ^ M l <l«fecte will with one or more sentinel defects. Incidence rates SK.
fl
CMr i n V n r
,,,l,y
e
i c g
p 8
, n 3
1
r e s i d e
8 t h a l
i n
1
Wal
n C
l
enCe
Wi
y
1
C B W 8
1 1
0
8an
re
0rted
8
X
^ ((WHO also has a.liatJof -sentinel"^single gene order, county of residence at brth. month of birth, birth
^ J
^ " 5
^
? ' P^tybirth
eral. ^ ^ ^ ^
diGordersthatareusedMindicatorsofthespontaneous weight, and gestational «g,. Denominator data were
mutat on rata The two lists should not be confused.) ob&ned on &e number of Msryland bh?be%TMTrJ!
Senunel defects mutt be reported m Maryland if land tesidenta ttcm tbe Center for Health Statistics at
diagnc^ or suspected at the time of birth (for both the Department of Health and Mental Hygie - and
hve and tMRurUif over 600 irams or 20 weeks) within were broken down by the relevant demographic varlafive days of birth. The law technically applies only to bles.
••P-WTO
^iJ% ? .
Maiylaiul. Infanl* with sentiSince the system la new, It was important to evaluate
nel defecu born to Maryland res.denta outalde the sute the completeness of leporting to BDWS. This was dons
t X ^ n ^ u f T ' ^
^
V ""-"P ^ bycomparingascertainmentof defects via BDRIS with
toBDWShulwillhelwiterijportadlnthenearftiture, that via Maryland vital records (births and fetal
as DC * plannmg U establish ite own monitoring deaths), All vital recordsfiledin 1884 with a •yea" code
>
52 1 7
"
" " W M malformations were reviewedtoideSS
two iystems.
the 12 defecU reported to vital records andtoexamine
Tbe spec..! reporting form conasts of three paru: whether the same Infants were reportedtoBDRIS
the evaluauon of Uie defect as made by the attending Because identiiying Information to^mllabhon
pediatric an the ob«Utrlcal Information pagefilledoS about 30
vSttnESkS^
by the aUend.nRotoUlrjdan, and information obtained matching the two systems were used fidtog dSe 5
from medical records end personal Interview with par- birth, hospital of birth, race. sex. and defaeL
ffi S K ^ t n ^
T *? ? T ^ ""•fc"
Wentlftr infanu with de^ t ^ S u e S i ^ t^
; ?
' ^
^ "Ported to either system, the extent S mT
ufffil V?.^,! :f m ^
L * * ' P « y deneporting could be higher than estimrted here. FurcomplicaUons, maternal illneases and drug exposures, thermore, ws compared Maryland BDRISrateswith
cigarette smok.ng during pregnancy, vilemln inuke. the CDC nationwide system^SmStTli*^ t ^
n
i
m u
m
y
01
t
W
P t m i 1
1
d a t o
0
e X c b e ^ B , , b 0 t w e e n
0 r
1
, , r f t p h
W
1
C , n
,natern
al
n
u
o n
y
n i e
Sinc<>
8a a m o t
r m a l l o n
8
re
nanc
J
tory of birth defecu m first degree relatives.
1 , 1
only infants diagnosed at birth arertoortedanduTh
e
1
g i o n f l l d i f f c r o
H5.Se f « m ^ i 2 S S 2 S J ? 5 t f
l!!f
™ « in rates of senti^l defocUTc^SdVt,
TrJ X l ? Z f r • r '
n*
» oomparison should provide a crude ssUmate ofthe
and other identifying information on the family unless amount of underreporUni In Maryland
pnrenta ooneenttorelease wch data or the Department
WWWIWHIH in roeryiana.
can show a public health need for such Informotlon.
Reaulte
While this l«w limits routinefollow-upof coses not
„ , /^
.
*****
givinK consent, Jt does not alfect the abilitytomonitor i
** ''* ^
$ R**d«n* Figure 1 disincidence rales since affected infanta still must be re- 5»y» ^ P ^ »tw (grouped by tertHes) of all sentinel
wrted to the Department even without identifyint oefeote combined (infante with one or more defects) by
nformation. Moreover, about 70to76 percent of oar county of tesidence atjiirth. Itcanbesesn that counties
enta consent to the release of their names.
*
National CapiUl area have generally lower
. . . „
rales (lowest tertile) for all defects combined than other
Analysis of 1984 Data
counties in the state. This is thought to be due to
K
t h
0 f
c h l l d
t b
M H m H W
U
t
/>
cte
0 1 w , e
A r e a
0 1
n o u n
3 1
t h o
^ ^ Z ^ J h T ? ^ ^ .
' P^toMerylandBDRIS.Tabled
I M , J ?*
*
f' * Inf*" were bom in incidence rate* of individual sentinel defhet* kii^lTf
Maryland to Maryland parents. Information presented
denoo at birth Datl a ^ d S ^
£
f
pertains to reported rate, of the 12 sentine? defect
^ ^ ^ 2 ^ ^ ^
, , w t
SSfl MM.I Otinber IftAA
6
000
14
�TQ:
FROM:UMAB HUMAN GENETICS
M Y 7. 1993 3:57PM
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3014690217
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basis of county of residence (total of 24 counties) because of the small number of observations in each
county. Severalfluctuationsin rates are seen between
various areas. Although some of the observed recional
differences could be real, it was thought that because
of small numbers, more data need to be accumulated to
establish stable baseline rates of these defects and to
• 0.0.49.1
assess both geographic differences and temporal differences within the same area.
• 4e0'TM
Compktenest of Aicvrfyirment of Sentinel Defect* A
• eo.7.»6».e
comparison of ascertainment of defects through BDRIS
with that from vital records is shown in Table 2, next
page. For most defects, BDRIS ascertains mote eases
birthi) of
than docs vital records. Overall, while 21.8 percent of ri*"*.foportedt*Um (per 10,000 liveof midenctUifuitt bom witb
more tenUnel defectt by county
it birth, MtryUnd
the infants are missed by BDRIS and captured by vital ont orDtfccle Reportthf snd Informitlon Syrian, Januiry 1,1VM to
BiiUi
records, 46.4 percent of infants are missed by vital D«e«inber 31,1984. Rates ire (rouped by Urtili*.
records but captured by BDRIS. However, for severe
and easily diagnosable conditions at birth such as anencephaly and spina bifida, ascertainment ia about the reported here may be an underestimate.
same in each system (slightly worse in BDRIS for Table 3, next page, compares rates of sentinel defecta
anencephaly). The percent of underreporting to BDRIS in Maryland with rates of the same defects ascertained
varies by defect. For example, 33.3 percent of anence-by the CDC nationwide monitoring program. Although
phalice were reported to vital records but missed by regional diffeiences in the true rates between Maryland
BDRIS, while no cases of limb anomalies reported to
rest of country do exist,
vital records were missed by BDRIS. This analysis and theof ascertainment in bothbecause of the similar
nature
systems (reporting
relies on the assumption that the two systems combined from hospitals of Infants diagnosed at birth), it was
ascertain all cases. This is unlikely to be true since thought such a comparison could reveal any gross unsome cases may be missed by both BDRIS and vital derreportlng of cases in Maryland. As shown in Table
records. Therefore, the amount of underascertainment 9, for most defects, rates in Maryland are somewhat
Table 1. Reported Incidence Rates*: Sentinel Birth Defects by Geographical Area, 1984
1
Maryland
Sentinel
( s be.sse)
N
Dtfeat
Number Rate
Tolel with aemin«l
defecu
295
52,7
AheMttphnty
8,»
23
Spina bifida
OS
K.O
Hydioctphalu* W/Q
•ploa bifida
17
10
Cleft lip w/orw/o
paUie
38
5.0
Cleft peiau
4.6
as
Btophaioal eWeftin
ft
1.4
Ractm/inal slrftla
6
1.1
ReducUen deformily
Upper H b
m
24
4.3
Lowe, Hmb
31
0.5
Othar Umb anemslie*
IS
3.2
«
1*0
HypoapedlM
ConseniUlhipdiilotation
39
7.0
Down ayndrome
32
5,7
Northwest
Area
(N • 4,417)
17
41.0
1
3
Balto Metre
Area
(Nai32,2»l)
N.t'l Capital
Am
(Na 11,804)
SoutharaArea BaMern Shore
(N o 3,086)
Number lUto
ISO
IS
17
SM
4.7
6.3
38
6
7
29.7
».9
SA
n
i
2.4
II
3.4
1
J
7.J
7.3
—
16
13
7
a
6.0
4.0
2.2
0.S
3
4
li
S.G
16
IB
11
47
9ft
22
_
-
t
4
4.8
9.6
i
60.1
9.8
>i
38
1
3
B8.8
2.5
7.6
0.8
—
—
4
10.2
8
5
—
1
3.9
3.9
—
0.8
S.S
14.2
3.6
3.5
8
1
7,6
2.8
1
T,t
4.7
5.9
3,4
14.6
6
7
1
2
4.7
9.5
0,8
1.6
i
4
1
1
_
as
8
18
117
33,0
9,0
6.8
8
4
3.t
8
7.6
a.i
i
8
17.7
2
7.1
* Rate* per 10,000 liveWith* by midenlt
Vol 88.No 10 MMJ Aft»
�FROM:UMAB HUMflN GENETICS
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Table 2, Comparison of Aacortainment between Maryland BDRIS and Vital Records
January 1,1884-Dec«niber 3), 1934
SenUnol
Uefecl
TOIAI w/wnlintil dcfcclii
Antnctphaly
Apln* bind*
Hydieeq»h«!u« *A» ^>ii>«
Cl«ftllpw/pt w/ojinlH!*
Cleft |>al/U«
B*0pht)|0Al «Vl«MA
ReeUl/nnnl •Inui*
fteduction deforniity
Upjier limb
ixtwci limb
Hy|i(M|i«c)ltR
Congenlt*! hip dlilocnilon
Down *yn(lf<ti»ti
BDRIS*
Numfter
AnerUtinmeal
Vital lUeoHtt
BotM
Number
Percent
Number
Percent
T«PUI
82
Percoiti
21.8
33LS
UA
124
14
16
32.9
414
43-2
877
33
87
m
88.9
21
38
82
»
8
62.6
61.6
20.6
21.7
38.6
171
8
It
92.4
0
10
11
17
4
1
47.0
3S.9
5.11
44.4
11.1
4
11
C
1
3
19.0
11.1
33.2
7
14
6
(
&
0
am
4H
2
D
48.4
fi2.7
6.1.0
—
24
7
7
—
28.4
•5.2
17.9
15
16
19
10
15
17
11
m
16.6
44.4
55.6
34
81
81
46
at
' CAMK ntceruilnod t*\ty Utnwuh HUIUS and mm d by Vital Ktoordt
l a
t Cnres nircrulnednnly throuih Viuil Recrtrdiend mlMedhv linniS
t C M r*]Mrl«(l IC IxHh cyMvel*
* »
Table 3, Comparison of Aeoertainmont between lower than rates reported by CDC for the same time
period, For most detects, BDRIS rates ere about 70 to
Maryland BDRIS and CDC Nationwide
80 percent of CDC rates, which is consistent with the
Monitoring Program, 1984
20 to 80 percent underreporting shown in Table 2.
Notable exceptions are the much higher rates of reducftenllnel
Maryland
llalio
CDC
tion/deformity (upper and lower Umbs) in BDRIS
DofecL
Nuiaber Rale* Number Hata* Maryland^
compared to CDC rates. This is due to the reporting of
Anenceitbaly
172
2.7
22
a.O
1.40
nonreductlon limb deformities In Maryland, which
flliiiwIrirKbi
28
BJ)
.1l»
6.1
o.fti
makes the two rates not comparable.
Hydrocefilvilua
w/o «|)inA
BttdogkQcM^kationdflkftcU Table 4, next page,
bifida
17
3.0
346
0.67
aummarfaas data on known reported causes of sent
ro
Cleft lip w/or
defects. Etiolofic groups were classified into: (1) known
w/o palaU
28
ft.O 587
9.1
0^5
Mendelian or genetic syndromes, (2) intrauterine InfecCUR polalc
2fi
4.S
359
0.84
»*
tions, and (3) chromosomal abnormalities. As shown in
A
IUMWJ.1
1.4
i).70
Table 4, of 295 infants with one or more sentinel
ira 2.0
Keolal/MMl
defects, there were 12 eases of genetic ayndromes, 1
etrrciA
6
i.i
m
intrauterine infection (CMV aseociated with congenital
IlMluftUon
hydrocephalus), and 5 non-Down syndrome chromodsfnrmiiy
eomal abnomalities. However, the vast majority (245)
Upper limb
24
4.3
94
ifi
2.90
Ivnmr liml)
:ti
5.1
OA
r,iM
of infanta had no recognised disorder underlying the
Hypf>«|W(IUl»
(7
1
120 2072 .12.0
\m
presence of these defecta. Of these 24b casee, 1(16 (76
O^nptniml hip
percent) had only one defect, while 69 (24 percent)
dlnliictlloii
7.0
0.22
n
o A.7 2044 ai,o
multiple defects.
Dawn AyAdmmr .12
603
7Jt
0.73
Dwjplta Spidemiology c/ Sentinel Defects Race
' llou* |Mr 10,000 lim l>irth>
(Table 6, next page): Overall, the reported incidence
rates of sentinel defects are higher in whites than blackt
(59,7 v 39.2 per 10,000). When rates of individual de
fecta are esamined, the white excess is seen for anen
cephaly, cleft lip with or without cleft palate, liml
B4n M ! October
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Table 4. Etiologio Classification of Cases with Sentinel Defects Reported to the Maryland BDRIS
January 1.1984-December 31,1084
Intrauterine
Chreroocomal
MulUpbt
Byadromet
Infection
Anomeliea
SMitlnel
Slnsle*
Number Percent Number Percent Number Pereent Numbw Percent Number Percent Total
Defect
ToU) w/Mnlint)
20,0
12.6
12
37
166
63.1
66
1
0.3
detecu
60.0
10
465
1
A>i«ncepK»tr
u
—
—
—
1
3.0
16
67.1
11
89.3
»
Spina blRde
—
Hydrooephelua
w/o tpine bl—
29.4
6.0
8
10
SSA
17
1
6.0
1
nde
Clelt II > w/or vr/o
_
,
14.3
1
7.1
21
78.0
4
28
pa aU
$«
2
CledptlMe
1
3.6
17
66.4
6
23.1
28
7.7
2
Eaophogoiil alrttte
25.0
12.fi
4
60.0
18.6
8
2
1
t
R»oUl/ah*l
2
83.3
83J
2
33.8
i
—
6
atietle
—
Reduction deform
iiy
2S.0
8.2
10
S6.0
41.7
24
6
6
6
Upper limb
—
26.0
16
4&4
81
7
«
22.6
Lower limb
Other limb
_
_
1
1
6.8
Hypocpe^an
ConB»nit«l hip
6.1
dlilocotion
—
Down lyndromt
* Defect OMurteUine
t Defect occur* wiUi other nnomnlioi
—
—
5A
1
32
ioao
8
68
44.4
86.6
8
9
44.4
11
84
18
67
t«
—
74.4
—
7
—
17.9
—
32
Table 5. Descriptive Epidemiology of Sentinel Defects Reported to the Maryland BDRIS,
1984 Rates* by Raeet
SoDiincl
Defect
Totnl with lenUnel defetu
Anenoftpbaly
Splmbindl
HydToemhehM w/o ipine
Qefl U w/or w/o palate
p
daft palate
Reoptafeal Atresia
floctal/An«l aUtaia
Reduction dtTorinlly
Upper iimb
Loww limb
Other limb anomallea
Hypospadias
CohfeniUl hip dlilOCAtioB
Down ayndrome
White
<Ns»»,SJ0)
Number
Rale
326
16
4.3
A.0
18
Black
(N a 16,085)
Nunbor
Reu
39.2
63
0
3,7
0
G.6
0
38
16
6
4
3.3
6.6
4.2
1.6
IJ)
7
8
7
2
2
23
26
8
47
37
29
6.0
64
2.1
12.3
8.7
7.6
I
6
10
19
•miwper 10.000 live biilhi
t Thrte Inhnti with unknown rare an aneluded
a
—
4.4
1.9
4.4
1.2
1.2
Other
(N • 1,861)
Number
Rate
4
86.6
—
—
Total
(Nc 6t),98e)
Number
Rate
62.7
866
22
8.9
28
6.0
17
28
26
6
6
3J5
60
4«
1.4
1.1
24
81
IS
87
39
32
4.3
6.6
3.2
12.0
7.0
6.7
—
•
0.6
9.1
6,2
11.8
1.2
—
1
—
—
.
6.4
~-
—
3
—
—
19.2
Vol 86, No 10 MM.) B41
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A
significant changes."
^
....
reduction defomritiM, Down Byndroine, and congeniUJ
Birth welght/geatatlonal age (Tab es 0-10, page 844):
hip dislocation.
,
^.
Low
<2 0 gm) and/or premature
Sex (Table 6): There Is a female excess in the reported birth weight infanu 1 : M rates of sentinel deintents (<36 weeks) have higher
rates of anencephaly, asophafieal atresia, and consenltal fects. There is also an increased rate of defects among
hip dislocation and a male excess In the rates of reduc-postmature infants (>42 weeks).
tion deformttiea of upper limbs.
Plurality (Table 7)! Overall, twm births are at a
Discussion
blither risk of being affected with one or more sentinol
defects (98.0 V 81.9 per 10,000). The twin exotse is This report describes patterns of occurrence of 12
noted for almost all defect groups.
sentinel defecta in the state of Maryland during 1984.
Maternal age flWe 8, next page): The well-known Data wore obtained via the newly established Maryland
association between Down syndrome and advanced ma- Birth Deflscts Reporting and Information System
ternal age M be seen In BDRIS. For other defect (BDRIS) and represent the first completed calendar
R
CTOUPS, there is a tendency for upwsrd trends in rates
of birth defect* reporting by Maryland hospitals.
with advancing maternal age (for example, congenital yearmain objectives of this analysis were to (1) describe
The
hip dislocation, reduction deformities, and h p > preliminary data from a n w »yrtera in the hope of
yo
e
spadias). For most defects, however, the numbers of ncTcasink awareness ofthe Maryland BDRIS and birth
cases in each maternal age cateeory are too small to defects monitoring In the state, (2) describe Incidence
achieve statistical uigniflctmce.
attempt to
Seasonality: Although soms fluctuations in reportedrates of these defects in Maryland, and (3) of defects
evaluate the completeness of aacertalnment
rates are seen by month of birth, the number of esses in the reglatry. The epidemiologicfindingsof race, sex,
in each month was too small to detect statistically
Table 6. Descriptive Bpidemiology of Sentinel
Defects Reported to the Maryland BDRIS,
19B4 Rates* by Sext
Sonllttcl
Defect
Tftlel wiUi eentinel Mtcl*
Anenoephaly
toinji bind*
Hydioecphelua
w/o aiiinn
Mate
FSmsle
Teial
<N«a8.73(»> <Ni»g7,*ai> <N.M,OM»>
N U M W K»»e Number RuUi Number Hale
465
4.8
6.1
266
22
28
.\3
17
4.4
4.4
28
26
0.7
2.2
8
3
1.0
0.7
6
li
16
(1.2
5.0
2.9
9.1
24
.11
14
67
4,9
1.5
16
67
10
14
a.6
4.0
10.8
6.6
3»
32
167
6
14
MM
28
4.0
IUIMA
8
2.8
c:iua ll|)peUie
w/ur
w/o
Cleft peine
16
14
61
4
4.9
2
EiepbesMl
etrtsia
Reclel/«n*l
aueale
ReducUoft
daformity
\ t f i » t limb
Lower liml)
Other linili
anomaliae
HypoqwdlM
Congeniia) hip
dlslocetlun
Down eyndreme
136
13
1
4
12
12
ft
14
26
18
'ftatatper 10,006 live Urlh*
1 Three Infante wilh emblguou* »ei ar* eaduded
842
MMJ October 1088
Table 7. Descriptive Epidemiology of Sentinel
Defects Reported to the Maryland BDRIS.
1984 Rates* by Plurality
fetttAol
Defect
Toul viih aonUnel dereou
Anencephaly
RlknaMfida
ll>(b<M>phAliia
w/o apins
3.0
UAds
Clod w/er
w/Dpnbrte
5.0
Clad p«latii
4.6
Bnphaiteal
etretia
1.4
RsMal/ansl
elreaia
1.1
Raduclion
deformity
Upper Hmb
44
Ixtwer Umb
ia
Other limb
anomulies
,Vl
Hypeapadlea
12.0
ConKeniU) hip
dlaloeoiion
7.0
Down lyiKbome
ft.?
62.7
3A
».o
einfileton
Multiple
Total
(N«M^SS)
tN« 1.123) (N • 65.066)
Number Rate Number Rate Number IVrto
284
20
28
61.8
16
S.t
11
2
178
S S
O
22
26
62.7
3.0
6.0
17
3.1
—
—
—
17
8.0
W
36
6.1
4.6
—
1
8.0
28
20
6.0
4.6
7
U
1
8.0
1.4
&
OA
1
8.9
1.1
22
30
4J0
6A
2
1
17,6
8.0
24
31
4.3
6,6
17
62
;i,i
11.8
1
6
8.0
44.6
18
67
3.2
12.0
39
82
7.1
6,6
—
36
32
7J0
* Hates par 10,000 live blnha
6.7
�3014690217
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A
and matarnal a*« dlfferencM found here are coneisfcnirates within geographic areas.
with what ia reported in (he literature. Examples of Second, as with any new birth defects surveillance
stieh known assoeialions are; (1) the relationship of system that relies on reporting of cases, completeness
Down syndrome with advanced maternal age," (2) theof ascertainment of eases has to be a prime concern
racial difierences in the incidence of neural tube before making inferencesftomcollected data. Thie is
defecta" and oral cUOs,'* (3) the asaociation between the main reawn an analyals of vital records was undertwinning and the rate of birth defecu," and (4) the token. Influbeequentyears, completeness of reporting
association of low birth weight and premalurity with will be validated against hospital discharge dlagnoaes.
birth defects.'" Also, the analysis documents the Nevertheless, at this time, although reportingtoBDRIS
marked underreporting of birth defecla on vital recordsis better than reportinfl on vital recordstormost sentinel defects, we estimate that at least 20 to 30 percent
as shown m previous atudie8. »•
Thin analysis has two mam limitations. Pint, because underreporting still exists for some defect groups. It
of the rarity of eenllnel defects, rates of individual cannot be overemphasized that unless there 1B complete
defects m y nuctuate on the bftsi* of email numbers reporting, true regional or demogfaphic differences in
a
alone, especially when cases are dassllied by severol rates may be masked by differential completeness in
demographic variable*. H is clear that more data need wcertainment. The Maryland BDRIS will continue
to be collected before the system will be able to establishefforts to capture all sentinel defects via contacts with
"baseline" rates of mallormatlons, For example, the different inatituUons as well as by coordinating MaryCDC nationwide monitoring system uses the llrst four land activities with the planned DC-area birth defecta
year* of data as baseline years. The establishment of
such baseline rates in Maryland will provide the system"^hepotenllal usMulneea of the Maryland BDRIS lice
with the ability to delect clear geographic clustering of in several charactetfsticB that dietinguiah the Maryland
system from many other monitoring programe. The
defecta aa well aa lo monitor temporal trends in reported
4
1
,
l,,,,,
9
Table 8. Descriptive Epidemiology of Sentinel Defeeta Reported to the Maryland BDRIS.
1984 Rates* by Maternal Aget
tln,l«>ftO
80-84
86-29
80-94
36-80
(N.7W6) <N.YB,3ja> (N«t7,««) tN«ie.71tt IN.8,08»
404-
Total
W-VV 5 i i S * ^ S .
NaMbor Itata Number Rate Number Hate Number flats Nnwibar Rate Nwsb.* Rale Number Ret*
Pefe*t
total with «en62.7
296
65.2
134/4
66.3
17
6
70
47.2
64
604
470
A3
80
tinel detai*
3.9
38
2
6,6
2.8
8
6
2.8
3.1
9-2
6
7
Aneneephaly
6.0
28
2.8
A
16
4.9
6.6
02
8
7
fipinAMfide
Hydrciceiihiilim
w/o qrinn
3.0
17
—
lilfida
6
U
6
3.7
4
12
2
19
Cleft U w/or
t
>
w/o !>aUu
Cleapeltt*
Kaepheseel
1
0
13
7.8
9
6
6.6
3.7
13
7
7.3
3.9
6
7
4.7
6.8
—
2
1,2
3
1.7
a
8.6
-
—
—
6
2.8
I
0.9
tlrMia
Reeul/aiud
elreeie
Itedoction
defonMity
Upt*r limb
Lowor U b
m
Other U b
m
•nomeHee
typoepediea
OofttfetiiuS W
p
dislocation
Down nyiidrtrae
-
-
—
—
—
28
28
6.0
4.6
-
2•
6
8
0
4.9
IM
4
7
2.2
%>
, (
7
7
6.6
0.6
1
8
1.3
11.6
8
14
4.0
8.6
a
17
1-7
0.5
4
17
3.7
169
1
0
3
3.9
16
0
82
6.0
0
11
3.4
6.2
13
7
12.1
6.6
4
8
1.4
—
—
6
1.1
1
2
28*
69a
34
11
4.3
6.6
1
1
26.9
18
67
3.2
12.0
2
1
83.6
36.9
89
38
7.0
6.7
3
IA
-
-
-
-
3.2
20.2
sea
•ReloiiMr 10,000 live WtUa
t Msternel axe wi« i > reportedfol31 Metylend binhe
Kt
i
Vol 86, No 10 M . 848
M»
�FROM:UMflB HUMflN GENETICS
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3014690217
Table 9. Descriptive Epidemiology of Sentinel
Defects Reported to tbe Maryland BDRIS,
1984 Rates* by Birth Weightt
Sentinel
Defnt
SiBOO grmm >8S00 tram*
T«Ul
( N B 4.000) (N-Bl.aSl) <N*»ee^Be>
Namber Rate Number fUte Number HaU
TMitl with tenUne) dsfem
Aneneejihaly
Spine bifid*
Hy4r<)cn>btlui
w/o«pin*
bifid*
CUIl Up w/or
w/o paint*
a«n p i u
ae
nMphaKenl
Kreala
Recul/«nel
etreaia
Iteductlon
dcfoinutv
Upper limb
Lowar liinb
Other liral)
anomalie*
HypMpadiiu
Congeniia) hi)»
dialoeeiien
Down yyiidmine
43.2
0.7
4.2
296
22
28
64.7
3.8
6.0
ii
2.1
17
3.0
33.3
33,2
19
17
3.7
3.3
28
26
6.0
4.6
9.9
4
0.6
6
1.4
S
12J
1
0.2
6
1.1
9
10
14.8
24.7
16
21
8.6
4.0
24
31
44
6.6
7
14
4.9
34 Ji
16
»9
31
10.3
18
07
3.2
120
3
7.4
4.9
36
»0
63
ja
39
32
7.0
6.7
7J
1«
0
17W
44,4
MJ}
234
4
6
14.(1
9
9
z
a
•Re(«< per 10,000 llw birlba
t Alrilt weight wea notreportedfor25 MsryUnd birth*
MY
A
7, 1983 4:01PM
8571 P.17
Maryland eystem is more complete than most other
systema in reporting prenatal maternal illneeses, mod'
ication Intake and prenatal occupational, envlronmen*
tal, and peraonal exposuies, Such information can be
used (when more data have been collected) to look for
associations between specific defects and putative teratogens. It should be noted that although no control
group of unaffected infants is available for comparison
of exposures, the availability of muhiple case groups is
helpful in detecting associations with specific types of
defects and overcomes the problem of recall bias that
Is Inherent in case-control studies using unaffected
controls."
Maryland has implemented a Health Registry system
that has, in addition to BDRIS, three other component
registries:
• Toxic Substances Registry is a computerised
system containing information abouttoxicsubstances and their presence throughout the state.
The registry can be used to obtain a profile of a
company with respect to its type of business, its
inventory of hazardous chemicol subetancee and
the manner In which they are used, disposed of,
and transported. It Is also a repository of Information involving toxic substances throughout the
state.
• Occupational Disease ReporUns System ie a
computerised system of occupationally related diseases.
Table 10. Descriptive Epidemiology of Sentinel Defeeta Reported to the Maryland BDRIS.
1084 Ratos* by Gestftllonfll Age of Infantt
Sentinel
Defect
Total with unlinel (Ufeeu
AnencepheV
Opine bifida
Hydroeephalua w/o apiiM
biftde
Cleft lip w/or w/wpal'i*
Cleft pslsu
EsoDhaiSNlttieaia
Heetal/euleueafai
lleducKon deformity
Upper U b
m
Uwerllmb
Other limb anomelie*
Hypotpsdlfts
Coiiseitiut hp dao s o
i i i cd n
Down tyndrome
538 weeka
IN w 6,162)
Number
Rale
63
13
6
87-41 weeks
(Na 39.908)
Rate
Number
60 0
211
»,1
7
14
12
4
a
1.8
8.6
3.0
1-0
—
6
9
2
10
1
3
9.7
14.6
9.2
16.2
1.6
4,9
11
16
13
38
22
32
24
4.0
3.3
9.6
».»
6.6
not raporled for 1333 Mwyland btrtha
H44 MM.) Ortohcr IftRtt
39.6
1.0
4.0
9.7
6.6
9-7
06
4.0
6
4
6
4
*naie*pii IO.WO live Wt *
rb
t Caatetloonl A e
g
166
4
16
£48 ireeka
(SmBfiOB
I *te
Number
104.9
84
6.7
4
10
a
—
3
7
e
19
16
7
Toul
(N P 56.906)
Number
Rate
62.7
296
23
3.8
88
6.0
SJ>
12.6
10J0
—
8-7
17
86
36
6
6
3.0
6.0
4.6
1.4
1.)
a?
7,5
87
88.7
SCO
24
31
16
67
39
82
4.8
6.6
3,9
lt.0
7^
6.7
a7
�FROM:UMfiB HUMfiN GENETICS
TO:
3014690217
• Cancer Registry collects information on incident ossos end engages in active data collection.
M Y 7. 1993
A
4:01PM 8571 P.IB
References
I. Hohanen, N.A. esd Khoury, MJ. "Menltorini for CongeniUl
MalformaUDftL" AnnRto fubiU Htakh 7(l»e);M7-e6,
These Tegistries can be used in scologlc and case-control e. gdaeMlft, L.D.: Layde. P.M: Jamea, IM.\ nyat, J.W.-, Stick'
Oekler, CP.
investigations of the relationship between specific mal-ion, J.t)A fiyatemi."/nl-Congenital MalfoimetioSB Airvaiilance: Two
American
J BpidmuA
formations (or cancers) and chemicals in various geo- 3. Oakley. G-P. -Population md 10(1881)047-62.
Cese-conttol Swainencc in the
graphic locations in the state.
Stttrrh for BnvfremnenUI Camee of Birth Dtfeclt • PuUk
h
Because of the recent increasing concern about the Av>eB<]08!)!46&'0&
4. Brickeon, i.hi Mvlinare, k MoClsin, P.W. el ol Vktnvm
potential reproductive toxicity associated with toxic Vttowie Wf* for fb<*Wn*fiobieiwith Birth Dtfecti. US Departwaste sites,, and because parts of Maryland have heavy of Health end Human Setvloc*. pvWlc Health Semite, Ctnter*
ment
induntrial activity, Maryland has Identified at least 40 for Diaeete Qoniral, Allanta, 1984.
sites as preliminary toxic waste Bites and has made
s. Khow. MJ.J Brtekwm, j,D4 Jamea, \M- "BUelOfie Heletxi.
Senelty of Neursl Tubs DsfeeU: It. Chwe htm Fsiefly Studies." A
m
detailed evaluations of at least 13 of these sites. As the
aftftessmenl of these sites continues, detailed infonna- J/fum(7fn«(84(l982)«80-87. "InleruUonsl CleatinffaouteforBirUi
Hey, S.
tion on the types and amounts of chemicals stored there 6. Ktynt, J.W. andOtnttiMionttoBpMmblaa md Bioxaiiiuh*
Dafeeu MonlUMinn.should become available and ten be used in correlative Vol. 1. Kllnitbe*, M.A- and W«»toieli, IJL.C, ad*. I
1979,
and case-control studies of the relationship between KarKCT, 1979. pp 44-62.
residence near waste sites and rates of specific defecta 7. loternatloM) Clearlnihooae for Blitb D.fwU Monitoring Sv«lomi, MlAMudRmrt. OockSelai: Oarplaonwttyokerlet. 1983.
ascertained via BDRIS.
8.
MiVgwala, P;
j,A.C 'European EcoLasti BDRIS has a service component. It provides nomicUchat, mKy'* ConeerbadWeatheislt,OoagentUl Atiomaliea."
OomiM
Aotion on
families of affected infanta with information about the Cttn BM Ret 163B(l9B6):ll-t6.
Prof
9. Edmoeuk, LD. AtUnU (poreonel eonmuaSceileii on unpuH
nature of the malformation(s) in their children and
liahtd daU fr«n U Birth DefccU Monltorlnt Piocrem).
w
about available medical and social health care systema.
10. Adaim, M.M.; RriekMn, J.D^ Leyds, P.M.; Oakley. CP
Sample pftdtets including information on the defects •Down'aftyiMbome-KecentTranda in tbe United State*.' JAM,
themselves, sources of aub-spectelised medical care, 246(ie»1^6«-e0.
social serviceft, financial assistance, and parent support II. Etwood, JM. md Elwood, J,H. EpUimiohp «/ Antnttphttu.
groups are available from the Division of Hereditary *nd Spina liifida. New York, Teroatoi Oxford University Preai, 1980
Disorders, Maryland Department of Health and Mentalpp 176-71
J.D-: Jsme*. LN. "Maieinal Pector
Hygiene by calling 301-225-6730. These materials are In15. Khoury, MJ^ Brleksos. fromInterracial Crewa* in the Unite)
Lip snd Ptlaie Cluea
intended as resources for both physicians and families. CUft Ttttdelcfiy 27(1983)^6) -67.
Sule*."
The Division of Hereditary Disorders also offera edu- U. Layde, P.M.} Brlckwn, J.O.iP»leV, A.i McCarthy, BJ.
cational presentations to professional and lay groups Kcnltal MaUormstlena In Twine." Am J fivm Ointt 3Z(lB80)«9.79
1 Orsvttt. M.O. "Cauie* cf rntcrra Deliveiy.- dentin Ptrim<
4
about the BDRIS program upon request.
8(l984)J46-&7.
It in important to remember that birth defects are a 16. apiera. Pi! -Doci. Oiewth lletsrdaUoa Predtapois the Fetv
leading cause of infant and child mortality and morbid- GongcBltal MelfonratiODS," Lmtet 1(1982):J]8-14.
to
ity in this country.14 Despite accumulating knowledge 16- Potednefc, A.P. snd Jsiwrlth, D.T. "Ue* of AvuMebla Reeor
on the epidemiology, embryology, pathology and ge- Sy»Umi in Eptdemlolofic Studie* of Reproductive Toxicology." A
netics of birth defects, causea of most malfortnationa JlitfMei 4(1883)489-48.
17. Kno*. *.Q4 Armttrons, tH.\ Uncethlie, R. The < ty
)
remain unknown." Ths recent proliferation in birth NotificaUon of Con«ealUl MalfortbeUoiuL" j BpUemhl Communi
defecta monitoring system* in this country should proHeollh 38(1984 M96-305.
vide n w insights into the etiology of birth defects and, ia Hueiher, C.A.; Ounnsne, Q.K; Hook. EJB. et al, Dowr
e
ultimately, their prevention. These goals can be Syndrome: Pcrcaniage IWrUnj on Birth Ceitlflestst and Sine
achieved not only by monitoring the incidence rates ofYesr Maternal Aft Rlak fUlt* for Obio 1970-78-, Oompariaon wi
UpataU N w Yotk." Am J Publ HeaUh 7Ulfl81):ia67-62.
e
defecta in relationship to new environmental exposures 19- Bracken, MB. "Metbodoloilc Istusi In Epldenlploitc Inve
but also by using population-based data in case-controltiKMlona of Dni|i.|iiduced Melfotmatien*.' IK Btadien, MA. (e<
studies of long-standing teratogens that thus far have /Yrifletol KpUminhM, OitSid UMeerrity Pieu, 1964, pp 413-49.
escaped identification.
20. Porter, IH. "Control of HeiedHary Dlafrtder*." Ann Itrv r<
Most defects are Individually rare. With better reporting of defecu and further accumulation of cases, HnUhmmyin-m J. "CongenUal Mallbmetlone: Bl
21. Kalter. H. snd Warkeny.
Maryland BDRIS will be able to play an increasingly logic Featore aod Their Role In Prevention." N Sngl J M
3<»(19»)rt>4-3J, 491-97.
importantrolein etlologic studies of birth defects.
Vol SO, No 10 MMJ 6
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�FROM:UMflB HUMflN GENETICS
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QfiSTEIIICS/GYNECOLOGY AND PEDIATRICS
Q W R cf Utnta Cneua
T B
'UNIYERSTTYOF MARYLAND
ATlALTIMOKS
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�FROTCUIfiB HUMflN GENETICS
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State-Sponsored Genetic
Services in Maryland
Susan R. Panny MD and Barbara A. Bernhardt MS
Dr. Panny it Chief, Dtiidon oftttredUan JXsordm. Mayhnd DepartmmiqfHealth andMmtalffygine. Mt Bernhardt It Genetic Counselor,
Sinai flojpitai ofBaltbrwre. Itprkrtv CVWrfan o/Htrtt&ay Duarden
DIIMH, 201W. PreaoH Su Btdfynare, MD 21201.
Laiyland is fortunate
a
M. accessible networkLaofbeing able to offeritsrelatively extensive and
genetic services to residents. Tbe
A cooperative network including
Depanmeni ofHeaUh and Mental
Hygiene (DHMH) units, univenity
teaching hospital genetics units, and
voluntary groups delivers
state-sponsored medical genedc
services in Maryland. Maryland's
system is one ofthe most extensive
and accessible in ihe United States.
Maryland Department of Health and Mental Hygiene (DHMH)
coordinates tnis cooperative network that includes direct health
department services, services provided by univenity teaching
hospital affiliated genetics units, and services provided by various
community based voluntary groups.
The goal of the cooperarive network is to identity patients and
toreducethe mortality, morbidity, and losses to society caused by
genetic diseases and birth defects. Services arc provided to patients
having or suspected of having genetic disorders and to persons at
risk for having children with genetic disorders. By law, all services
in Matylandareofbredonavoluntaiy basis and informed consent
is required of all participants in any genetic services program.
The Maryland genetics network subscribes to the policy of the
national Coundl of Recional Genetics Networks (CORN) that
cadi state should provide certain minimal genetic services including newborn screening, access to state-of-the-art diagnostic and
treatment servicesforaffected patients and their families, birth
defects surveillance, and educational and specialty programs appropriate to the state's spedfic needs and populattoa
The network also has worked to eliminate thefinandaland
barrien that might prevent Maryland residents from
t using the available genetic services. All Maryland residents
arc eligible fbr services, and no patient is turned away because of
inability to pay.
2
Organization and Funding
The state geneticsorvices network is supported by a combination
of stategeneral funds,federalMaternal and Child Health (MCH)
Block Grant funds, and categorical grant (mostly federal) funds.
The service network consists of a central core unit in the Department of Health and Mental Hygiene and a grant program that it
administers.
it
MMJ NoveraterJW
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clinical activities, became increasingly difficulttoobHUB DHMH core unit, tbe Division of Hereditaiy
Disorden, located in the O'Conor State Office Build- tain. Hie partnership provides Maryland residents
with a significantly higher level of service than could
ing in Baltimore, is supported by approximately
$310,000 in state general funds. The central core unit be provided by dther die state atone or the univenity
teaching hospital genetics units alone.
provides newborn screening, follow-up services (including dietary therapyforpatients identified through
Giantsforthe last three years have been awarded on
newborn screening), hemoglobinopathy screening,
die basis of proposals submitted in reply to a formal
alpha-feto-protcin (AFP) screening, a birth-defects
RFP (Request for Proposals) as specified in the
reporting and information program, a clinical genetics Maiytand Code of Regulatioru, Title 21. However,
and prenatal diagnostic referral service, educational
recent changes in the procurement policy for hui
programsforprofessional and (ay audiences, and a
services may simplify tne procedure in the future. Speconsultation serviceforlocal health departments and
cialized procurement regulations {Maryland Code of
community health professionals. The Division of
Regulations 10.52.01) specify the educational credenHereditary Disorden works dosely with other units in tials, experience, and medical specialty board certificathe state health department, espedally the Labortion required of providen. For laboratories,
atories Adminisiration, to provide these services.
continuing successful participation in appropriate
laboratory proficiency testing programs also is reOsc-management services for children with sickle
cell disease are supported by a federal SPRANS (Spe- quired. This ensures that the genetic services procured
by the DHMH are of the highest quality.
cial Projects of Regional and National Significance)
Thcdinical services procured through the grant progrant of $182,000.
gram are provided on a tertiary center/outreach clinic
Hie grant program administered by the DHMH is
model Specialized laboratory services and comsupported by federal Maternal and Child Health
munity based sickle cell services are also provided
(MCH) block grant funds. The Secretary of Health
through the grant program. Table 1 outlines the orand Mental Hygiene has allocated approximately
$400,000 of Maryland's MCH block grantforclinical ganization and funding of the service network.
genetic services. These funds support a unique
cooperative arrangement Maryland has long been a
Clinical Services
centerformedical genetics, and many of the pioneers
in thisfieldhave worked or trained in Baltimore.
Clinical services arc provided by the univenity afSeveral of the medical genetics units in leading
Maryland medical instltutionB have had a long-term filiated teaching hospital medical gpoctics units at
interest in providing genetic services on a populfllion- major medical centers. Each center provides comwide basis but were unable to support the full cost of prehensive state-of-the-art clinical genetic services insuch services within institutional budgetary constraints. Knowing that the
Table 1. Organization and Funding of Genetic Services in Maryland
interest and some of the
needed resources existed,
BcrvtGN I MM nail
tMoutlemtSom
the Department of HeaUh PmciimialUnil
» newborn Krocolng
and Mental Hygiene was DHMH core Unit
gcDcnlfurab
• mctmbolicdlKHdcr cue Bunigcmenl
able to initiate a clinical
• birth deject* progntn
genetic services program by
• AFF testing
offering grants which
• herooRlobioopuhy »crcenlnj
providoda partial subsidy of
• edratknaljpropsms
• rsfanal ttnuc
the services to be procured.
The grantees, mostly
• eauoltattontortotalhoalth dcpinmeflU
univenity affiliated teach• llttioa and uliulniglntian
ing hospital genetics units, Httnoglobinopolby
SISS^OOSFRANS
• computerlxedrMistiy
graat
provide an in-kind con* c&n mnQiggintsi
• hemoglobinopathy Kraening tollow-up
• genetic coaaseUhg at oatrcadi dbtic*
tribution worth two to three
• cueiMMganent
times the dollar value of the
• education*! progranu
grants. This partnership
• geoetici center tctvicet ti 4 centen
benefits both the medical •nmt prqgrBO]
MOO^KVMCHNock
• outmdt clinics at 14 litei
nuitfuMb
institutions and the state,
• labontoiy monitoringformeubolfcdltonler
sS.OOttkute
.providing the institutions
• eomiminity-hMcd tickle cell icryiew
general foodl
with a partial subsidy of
(crfucattan, screening, Bounwilng)
• mcrfiol M kay-up o rattenfawith gbncnnil AFF ws
<
clinical services at a time
(general fundi)
whenfederalresearch funding, which historically had •pwycar
supported some of these
936
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�F O : M B H M N GENETICS
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eluding diagnostic evaluations, treatment, long-term
medical management, and genetic counseling. Each
center has a prenatal diagnostic program. Cytogenetic and biochemical genetic laboratory services
also are provided Hie DNA diagnostic laboratory is
located at the Johns Hopkins Medical Institutions.and
the organic add screening laboratory is at the John F.
Ken naly Institute. Sendees at the centers are provided
by American Board of Medical Genetics certified MD
clinical geneticists, PhD medical geneticists, and
genetic counselors. Each center provides weekly
genetics dinics and inpatient consultation at its own
medical center andforaffiliated community hospitals.
There are currently four clinical genetics centers in the
network: Johns Hopkins Hospital, University of
Maryland Hospital, Greater Baltimore Medical Center (in the Baltimore area), and Children's Hospital
National Medical Center (in the Washington, DC
metropolitan area). All the centers sec patients of all
ages, but the Moore Clinic at Johns Hopkins is
oriented primarily toward adults and the other units
are oriented primarily toward children. Prenatal diagnostic patients arc usually seen in separate facilities or
scheduled separately. Although Children's Hospital
National Medical Center is located outside Maryland,
it is still the most convenient referral center for many
families living in the counties surrounding
Washington, DC and in southern Maryland. Approximately one third of the patients seen there are
Maryland residents.
There are currendy 14 genetics outreach clinics.
Each one is unique, designed to meet local needs and
preferences. Each meets approximately every other
month, and each is staffed by personnel from one of
the genetics centers. Diagnostic consultations, routine
management for patients with genetic disorders, and
genetic counseling, including prenatal diagnostic
counseling, are offered. Should a patient require a
subsequent trip into the genetics centerforservices
that cannot be provided locally, the outreach team will
coordinate that visitforthe patient and his or her
referring physidan.
Referrals are welcomed from physicians, other
health professionals, education and sodal work
professionals, and genetic disease related voluntary
groups. Self-referrals arc also welcomed and recdve
the same serious consideration as other referrals. Approximately one third of all patients are self-referred
The dinic/center system serves approximately 8,000
people cadi year.
The system billsforits services, accepting private
insurance, Medical Assistance, Children's Medical
Services' subsidies, and otherformsof third-party payment Patients without third-party coverage arc billed
on the DHMH sliding fee scale. All providen! will
arrange liberal payment schedules. No patient is ever
turned awayforinability to pay. Allfeesare collected
by the unit providing the service and must be used to
underwrite, expand, and improve the genetic services
program.
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The Figure show the location of the genetics centers
and outreach dinics. Tfeble 2 lists tne dinics, tiieir
tertiary center affiliations, and contact persons.
Newborn Screening
In 1965 Maryland initiated a statewide newborn
screening program, becoming the second state to do
so. The DHMH newborn screening laboratory does
the testing for babies bom in Maryland, as well as in
Delaware and Bermuda, andforoverseas US military
dependents. Over 100,000 babies (approximately
70,000of them born in Maryland) arc tested each year.
The Maryland program tests infants for phenylketonuria (PICU), maple syrup urine disease (MSUD,
also called branched chain ketoaddurla or BCK),
homocystinuria, tyrosinemia, galactosemia,
biotinidase defidency, hypothyroidism, and sickle cell
disease. Screening is voluntaiy and requires informed
consent The DHMH provides informational
brochures and detailed consent forms to assist health
professionak in obtaining Informed consent Although the program is voluntary, Maryland b among
the top two states in compliance with newborn screening and has better compliance than do most states with
mandatory screening programs. The DHMH does
not chargefornewborn screening.
Ideally, each infant is screened twice. Infents are
screened initially after they have had 24 hours of
protdn containing (milk) feedings- A second screening is offered between 1 and 4 weeks of ageResponsibilityforobtaining the inltialspedmen is
with the institution in which the child was bom or (for
the less than 600tyr out-of-hospital births) with the
person neponsible for filing the birth certificate. If a
child is discharged before he/she has had 24 hours of
milk feedings, tbe initial screening will have to be
repeated as soon as feeding has been established. The
testsforhypothyroidism, biotinidase defidency, sickle
cell anemia, and one of the two tests done for galaclosemiawillbevalidrcgardlessoffeedingstatus, However, the. remaining tests, whidi lookforthe accumulated
metabolites of substances that the child cannot appropriately metabolize, will not be valid if the child has
not been fed
All abnormal screening test results arc phoned im-
Flgum.
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Table 2. Maryland Department of Health and Mental Hygiene
Outreach Genetics Clinics
TtnUiyOiiutfcsCvnltr
ANNAPOLIS
Anas Arundel County Health Dept.
Sue Schneider RN, BS; 301 ^224-7177
aiEVERLX
Prince Ooorge'i County Health Dept.
Childron'i Hoepital National Medical Center
Dept. of Clinical Oonetica, Washington, DC
MaiyRobMni; 301-772-1191
CUNTON
Dyer Regional Health Center
Children'a Hotpital National SSedlMl Center
Dept. ot Qiaical Oeaetiei, Waihington, DC
Maiy Robbinii 301- 772-1191
Children's Hotpital National Medical Center
Dept. ol Clinical Oenctkf, Waahingtoa, DC
CUMBERLAND
Allegany County Health Dept.
Juanita Nightingale RN; 301-777-3622
Unhcnlty of Maryland School of Medidiw
Divialnn of Human Qcnetlo, Baltimorc, MD
Amnio - Judy Bacoo
CVS-ShlricyBclschiter
301-32S-381S
Univenity of Maiylaad School of Medidne
Division of Human Ocnoda, Baltimore, MD
ELXTON
Cedl County Health Dept
Nonni Dempiey RN; 301-398 5100
Johni Hopkiai Unircniw School of Medidne
The Joseph Barl Moore 6labs, Baltimore, MD
FREDERICK
Frederick County Health Efcpt.
Healherlynn Oottert RN; 301469-3311
Unlveiaity of Maiytand School ef Medidne
Dlviafoo of Human Qenetla, Baltimore, MD
HAQERSTOWN
Waihtngton County Health Dept.
San Jean Hqytq 301-791-3291
JehniHopidni Univenity School of Medicine
Division ef Pediatric Genetics, Baltimore, MD
LA PLATA
Charles County Health Dept.
Lucy Rtehmond RN; 301 -934-9577
Children'! Hoepital National Medical Center
Dept. of Clinical OeneUc», 'Washington, DC
Betty Siager KN.BS
Diane Skelley RN; 30M75-4330
Childnn'M Hoepital National Medkal Center
Dept. of Clinical Gonetla. Whihington, DC
Birbora Rogcn RN; 301-53«-540Q
Children'* Hoepital National Medical Center
Dept. of CUnkal Oeoctica, Waihington, DC
EASTON
Talbot County Health Dept.
LEONARDTOWN
St. Mai/s Connty Health Dept.
PRINCE FREDERICK
Calvert County Health Dept
SALISBURY
Womea'aCUiik
Peninsula Oenenl Hospital
WESTMINSTER
Carroll Couniy Health Dept.
Merry FCITC; 301-328-3813
Univenity of Maiyland School of Medidne
DMsioa of Hamaa Genetics, Battlmore. MD
Donna Dcvilbbl RN; 301- 876-2152
Creator Baltimore Medical Center
Medical Gcoetta, Baltimore, MD
miEATON
Montgomery County Health Dept.
Judy Owich; 301-217-1850
CMIdreD'i Hoepital National Medical Center
Dept. of Clinical Oenetla, Washington, DC
mediately to tbe child's physidan ofrecordby the
P^MH physician. Appropriate plans are made for a
definitive di&gnostk; workup at any of the networks
gpnetics centers. If the diagnosis is confirmed, plans
for long-term management of the disoidcr are made.
"Hie major component of therapy for the inborn errars
of metabolism is dietary. The program provides
laboratory monitoring, the services of the metabolic
specialists at the genetic centers and of the expert
metabolic disease nutritionists at the DHMH, as well
as genetic counseling. The spedalformulasfor dietary
therapy are available to eligible families through
MS
medical assistance: the Women, Infants and Children
Food Program (W1Q; and Children's Medical Services (CMS). Tlieformulasare available to other
families at DHMH cost through CMS- The DHMH
writestothe companies of patients with medical insuranoe explaining the disease and the medical necessityfortheformula,but many companies cannot be
persuaded to cover spedal formula coils. Other services, such as psychometric and developmental
monitoring arc available on a referral basis. Families
also ate referred to the appropriate family support
group. The DHMH nutnhon&ts provide coordinaMMJ Vol 38 No 11
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FROM:UMflB HUMfiN GENETICS
tion and case-mana«sraent servicesforthese children,
as desired by die child's pediatrician, and currently
follow 157 metabolic disorder patients.
In&nts kfcntified as having congenital hypothyroidism
may be referred to pediatnc endocrine consultants at
major unhcraty teaching hospitals.
Newborn screening is one of the most cost-effective
public health genetics programs with at least $93,000
m additional health care costs averted per case detected
and treated, according to the OfficeforTechnology
Assessment of the US congress? In human terms,
however, the program is invaluable, allowing 15 to 20
affected children each yeartogrow and develop normally to become productive dhzensratherthan mentally and neurologies lly impaired patients in
institutional care.
Hemoglobinopathy Programs
Newborn infants arc screened for siddc cell anemia
as part of Ihe newborn screening program. A federal
grant from the Bureau of Maternal and Child Health
and Resources Development (#MD890502-0310) has
made possible the implementation of a follow-up system for infants with abnormal newborn sickle cell
screening results. The physidan of record at the hospital of birth and the family arc notified of abnormal
results by the hemoglobinopathy program nurse coordinator. Arrangements are madeforconfirmatory
testing and a definitive evaluation of confirmed cases
by a pediatric hcmatologist. Prophylactic pcnidllin is
started beforefourmonths of age. If the child has no
regular source of primary pediatric care, the program
willfindthe family a pediatridan. Ihe program also
provides each family with the opportunityforgenetic
counseling. CMS will cover primary care, all recommended vaccinations and medications, as well subspecialty care for eligible sickle cell patients up to three
years old. Coverageforolder children is considered on
a case-by-case basis. Working with the pediatric
hematology community and the Maryland Chapter of
American Academy of Pediatrics, recommendations
fbr the medical management of pediatric sickle cell
disease cotjsistent with the NIH guidelines have been
developed. Coordination of care, as desired by the
pediatridan, is provided by a oommunity health nurse
who serves as case manager in the child's local community. Sodal and community support and educational services for families arc provided by two
community based sickle cell organizations, ASSERT,
Inc (the AssodationforSickle Cell Services, Education Research and Treatment, Inc), and the Maryland
Chapter of the National AssociationforSidde Cdl
Anemia. Together the groups reinforce genetic counseling and medical information, and provide home
visits, parent and patient support groups, a summer
camp andfieldtripsforyoung patients, tutoring for
School-age patients, and much needed emotional support. Ongoing pediatric hematology consultation for
the patients is available, as desired by the child's
4
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pediatrician, and on a yearly basis through the regular
visits of the pediatric hcmatologist to the outreach
genetics dinic in the patient's oommunity. (Alternatively, the patient may visit the hematologisfs office, if
that is more convenient)
Ihis is a young program, but the results are encouraging. Since the beginning of the program in July
1985, over 200 children with sickle cdl disease have
been identified and none have died as a consequence
of their sickle cell disease. Unfortunately, since the
loss of a program previously funded by the Maryland
Chapter of the National Assodation for Sickle Cell
Anemia and implemented Ihrough several major
hospitals In the state, there is no comparable casemanagcraont programforadults.
The DHMH providesfreehemoglobin saocning to
approximately 21,000 older children and adults yearly
through the Hemoglobin Disorders Laboratory. The
screening of high-risk children is part of the EPSDT
(Early PerkxticScrccning and Devdopmental Testing)
protocol, and it is standard-of-care to offer hemoglobin
screening to maternity andfamilyplanning patients
receiving state-sponsored care. Genetic counsding and
prenataldiagnosis are available to couples at risk for
having of&pring with sickle cell disease.
Alpha-feloprotein Screening
I.
V.
The DHMH Alpba-fctoprotein (AFP) Screening
Program for Improved Pregnancy Outcome offers
free AFP testing to all maternity patients receiving
state-sponsored prenatal care. Samples on other
patients who arc unable to obtain testing from the
private sector are also accepted. The simple noninvasive blood test is drawn between 16 and 18 weeks
gestation. As with all genetic tests, partldpation is
entirely voluntary and requires informed consent.
Brochures a nd consentformsare available to assist the
health professional in discussing the test with patients.
Tlie program includes laboratory,follow-up,and
counseling components. As is well known, elevated
levels of maternal serum AFP are assodated with
neural tube defects, ventral wall defects, and a variety
of other birth defects. Low levels of maternal scrum
AFP are assodated with some chromosomal anomalies, notably Down syndrome. Elevated AFP levels,
in the absence of definable fetal defects, also may be
associated with an increased risk of pregnancy loss,
prcmaturity,or low birth weight. Sinceinterpretation
of test results is complex, dependent on gestational age
and numerous fetal and maternal factors, abnormal
test results require careful evaluation and further testing. Abnormal test results are, as in other genetic
testing programs, immediately phoned to the referring
physidan by a physician or nurse from the program.
Consultation with respect to the timely arrangement
of appropriatefollow-uptesting is offered. Follow-up
testing, including specialized sonography or amniocentesis, and genetic counseling is available at the
genetics centers. Follow-up servicesforpatients recev-
1
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ing state-sponsored maternity care are available
through the Division of Human Genetics at the
Univenity of Maryland The program serves approximately 12,000 patients cadi year.
voluntary groups. The Maryland genetics network exists primarily to provide services lo patients with
genetic disorders and to thdr famihes. The genetic
disease voluntary organizations are invaluable and
energetic partners in this endeavor. These groups
usually consist of patients, their ftmilies and friends,
Birth Defects Reporting and Infonnation System
and other individuals interested in a particular disorder
or related group of disorders. They have (at least)
Title 18, Section 206of XbtsAmotated Code o/Maiytand
three unique contributions to make to the profesrequires hospitals to reporttothe DHMH in&nts born
sional-voluntary partnership in support of the
with any of the 12 specific birth defects spedfied by the
patient *"
World Heaith Organization. This program collects data
First, they can extend the services that health profeson the inddence of such defects in Maryland The data
sionals provide, in a voluntary group, the health
are used in epidemiological, etiological, and clinical serprofessionalfindsa dedicated group of people who
vice-delivery related studies. Apnyiou&MaiybiidMedlhave, through experience, become very knowledgeable
col Journal article describes the system in detail. The
about a particular disorder and its problems.
major use of the data at present has been to improve the
Reputable voluntary groups are an excellent resource
allocation of state resources by bulldog a better profile
for rdnfordng the physidan's explanations and inof which services are needed, and in what numbers, in
structions to the patient orforassisting a new patient
each geoeraphical area.
in complying with a complex medical regimen. They
In addition, the program offers information about
can sometimes spend hours working on an issue with
birth defects and about the services available to
a patient while the physidan can only spend a few
children with such defects and to their families. It
minutes. Further, they can "validate" what the health
offers brochures on the various defects and on the
professional says. Hearing the mother of another
more general problems of having a child with a birth
child with a given disorder say that the medication is
defect, which health professionals may find useful for
important and that it really helped her child makes a
their patients. The most popular are: Special Jnfomamuch stronger Impression than a health professional's
tion about Special Babies, for parents whose children
biochemical explanation. Tbe voluntary group memhaveagoodpiognoshiParentingtlteOdldwithaSenous
ben can give emotional support in a unique way. They,
BinhDefect-YouAreNoiAhne,&pptoprid\cforfamilies
too, have been there. They will often develop resources
when there is a poor or guarded prognosis; and &iesor work on important nonmedical problems asmns. Answers and Help for Parenm After Stillbirth or
sodated with the disorder such as appropriately fitting
Infant Death,forfamiUcs who have lost a baby. For
dothing for patients with skdetal dysplasias or apmany birth defects, the program rdics on the excellent
propriate schoolingforyoungsters with disorden afmaterials produced by the March of Dimes. There is
fecting intdlectual development
no chargeforthe informational or referral services of
Second, voluntary groups are terrific advocates for
the program. Approximately 500 fumilies arc served
proper funding andresourceallocationforboth clinieach year.
cal services andresearchon "their disorder." They also
advocate programs of general interest to the entire
Educational Services
genetics community. Many genetic disorders are rare,
and at some point in setting prioritiesforthe allocation
The Division of Hereditaiy Disorders. DHMH, ofofftinds,issues of "the greatest goodforthe greatest
fers an active educational programforhealth profesnumber" arise. Therefore, voluntary groups have
sionals and lay groups and has been working with
recently begun toformalliances to increase the effecscience teachers throughout the state to enrich the
tiveness of their advocacy programs. They have
genetics curriculum in the public schools.
found many issues of common interest such as medical
The Division both responds torequeststo provide
insurance coverage. A national coalition of genetic
particular programsforinterested groups and presents
voluntary groups, the Alliance of Genetic Support
regular cycles of programs for its traditional audiences. Groups, based in Washington, DC is beginning to
Maryland is fortunate to have a concentration of
have a significant input on federal health care financeminent geneticists at local institutions, and the
ing issues. NORD (the National Organization for
Division 6, therefore, able to attract distinguished
Rare Disorders) has been instrumental in the passage
speakersformany of its programs. There is no diarge
of the orphan drug legislation which is intended to
for the program's educational services.
promote the development of drugsforrare disorders.
Such drugs, because of their small potential market,
Working with Voluntary Groups
would ordinarily not be cost effective for a pharmaceutical company to develop. Sometimes voluntary
From the public health perspective, one of the most
groups directly fund grantsforchnical services or reimportant recent developments in genetics is the insearch. Although such grants are usually small, they
crease in the number and activity of genetic disease
often provide the seed moneyforpreliminary studies
8
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enabling the professional to applyformajor funding
elsewhere.
third, voluntary groups have much to teach health
professionals. Not only can they teach us to avoid
inadvertent insensitivity in our dealings with patients,
but also they may have very useful data bases to share.
For the specialist, they may have valuable patient
registries, useful in locating persons interested in participating in epidemiological studies, syndrome
delineation studies, clinical trials, or basic research
projects. For the general practitioner they may have
textbook level material, lists of consultants, bibliographies, or literature summaries on various diseases
that are useful when faced with a puzzling diagnostic
problem.
Tbe physician caring for a patient with a genetic
disorder or a rare disease may wish to refer the patient
to the appropriate voluntary group. Such groups may
offer emotional support, peer counseling, patient or
parent discussion groups, much practical advice in
coping with the myriad effects of the disorder, literature about the disease writtenforpatients (and sometimes for professionals), summer camps ur social
eventsforaffected persons, tutoring, small grants to
cover medical expenses or equipment, and so on, and
a sense of belonging to a caring community. Of course,
voluntary groups vary in the range services they offer,
as well as in their effectiveness, stability, and sophis-
P.0B
to themselves, and will notfeelthere is any stigma
associated with the use of such services.
The network has attempted to overcome geographical barrien to accessing services by providing services
through a system of 4 centers and 14 outreach dinics.
The most commonly needed dinical servkt* usually
can be provided in a prospective patient's community
or a nearby community.
Unfortunately, economic barriers to obtaining
genetic services are difficult to overcome. The network
attempts to minimize economic barriers to service by
merging the contributions of state government, federal
government, university medical centers, and voluntaiy
organizations into a program of services that no one
sector could provide alone. The DHMH provides
screening and informational services free of charge
and contributes coordination and case-management
services for some high-risk individuals. Medical assistance and CMS contribute lo tbe ongoing medical care
of eligible patients. A slkUng-fec scaleforthose services available through the outreach dinic network is
in placoforpatients without third-party coverage.
The partial subsidy structure of the grant program
allows extremely cost-effective use of available
governmental funding. Nevertheless, access to some
genetic services will be limited for some potential
clients because of economic reasons. Often thirdparty reimbursement docs not cover the full cost of
obtaining or providing the services. Three projects
funded through thefederalDepartment of Health and
Human Services recently studiedreimbursementisMatcrnal and Child Health (NCEMCH)" can assist
sues in genetics, defined the cunent problems, and
the physician in locating a reputable and appropriate
offered some solutions. Many of the problems
voluntary group. NCEMCH has published a directory
studied are issues in any area of health care, but some
of such groups.
are unique to genetic services delivery.
Historically, dinical genetic services have been subsidized by research andservicc grants and, in the past,
Cost of Genetic Services to Patients
patients were not charged directly. As these services
(such as diagnostic evaluation, chromosome analysis,
The members of Maryland genetics network work
and amniocentesis) bocamc incorporated into routine
cooperatively to provide genedc services to the populamedical care,federal,state, and foundation subsidies
tion and have worked to make high quality, coat effec- dedined and patients were increasingly expected to
tive services available. However, the network's goals payforthe services. Fortunately, genetic services have
will not be achieved unless the services can be utilized remained accessible to many patients because thirdby those who would benefit from them. Potential
party payers, induding medical assistance, have begun
patients face (at least) three major types of barriers to to provide some coverage.
obtaining services: educational or attitudinal barriers,
Genetic services emphasize patient education and
geographical barriers, and economic barriers.
regularly involve the participation and possible testing
The network attempts to overcome educational barof many family members. Therefore, from the
rien on the part of potential patients through its
provider point of view, genetic services arc labor and
various brochures and lay educational programs, espetime Intensive. Typical chargesforsome genetic sercially its new public school genetics cumculum. It is
vices (obtained by surveying Maryland providers) are
hoped that by introducing human genetics into tho
outlined in Tabic 3. Tne chargesforthe cognitive
school curriculum, an entire generation of young
services (diagnosis, management, and counseling) are
people will emerge with an understanding of genetic
ratdy high enough to cover the personnd costs indisease and of the capabilities and limitations of medicurred in providing the services, and die actual paycal genetics. Knowledgeable people will be more acment received is typically less than 80 percent of the
cepting of those members of our population who are
amount charged. Some commonly provided dinical
affected by genetic disorders, will recognize when
genetic services, such as genetic counseling, are not
medical genetic services could be of potential benefit
covered by many third-party payers, including the
P
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13
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1
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931
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3014690217
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Oiwfit
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123
450
650
OooettccounieHng
ChroaoMme enalycii. periiiicnl blood
Chraraatoiae vrialytii - amnioticfluidor
ehorionicvilluj
AmnioccnlesU - pcoeedute ehirgc only
Chorionic villus umpllng • proocduns charge only
P.09
I Paaay SR. Mininuil state geaetle uuvioei. In Amato US, ed
Ooimdl of RegloDal Nctwks tor Oeoctk SwvicM Roport. We»t
Virginia Unhcnitr, 1985:48.
3. US Congfeu Office ol IMmolon Auetancoi. Healthy
Cfalldftn: love*log In the Foture. OTA-H-34S. US GPO 1988:107.
4. OMtoo MH, c! »1. Propfcylixi* with oral pen idmn in ehiMren
with sickle cell utmla. NfingllMed 1986^14.1593^9.
5. Newborn icrcontng (or etckle coll ditcaie and other
hemoglobltiopatUet. Notional Inttllutei of Health COOMCUUI
Development Confarefloe Statenwat 19S7;S(SI):1-21
6. WaJd Nl, Cockle HS. Blodieaiital detection of neural lobe
defteu sad Down wndrame. In Tutnbull A, Chambcrlla O, eds.
Ofastetrim. Bdinbunb; ChnrehlU-UvlnBtaa. 158ft2«>-W.
7. KhowyMJ.WehutelnA.PannyiR.rtaL Epidcmiolofy at
NntinelUrthdefcca Id Maryland, 1984. MM! 19B$;35:8S7-45.
S. Fuitzky IF, Burnt JK. Family tupport group*. Birth Defects
1984;2D;U8-29.
9. Weta JO, Karfcalita JE, Bishop KK, Paul NW. cd* Oeoetia
nppoft group*: Voluntcen and pimnioaab aa partnen. Birth
TableS. Typfcal ChargeiforGenetic Services
Comprchoulve new p*tkm ollnittl
gonctia oonaltatioa
Intermediate (fpllow-dp) coMiiltitlon
M Y 7. 1993 3:54PM 8571
A
350
350
Maryland Medical Asastance Program, because the profcs10. Panny SR. Manrlandca advoating lor Miviixs far hendHuy
eoBdltioai (MASH) Birth Dcfiteu l!K«;22;123-tt.
sbnah who piwidc counsding (mastcrt leud^nctkcoun11. The Alliance of Oenetle Support Oro«i»,ctoNatlooiI Center
selors) arc not licensed and generally not considercd as
reimbursable providen by third-pam' paym. Therefore, for Education in Maternal and Child Health. 36th and R Streets
NW, WaaMngtoB, DC 20097 (2024254400).
genetic sexvios are raidysdf-suppxtmg.
I I The National OrganinttaforRate Diaordcn, PO Boa(8923.
The extent to which economicfactorsaffect genetic New Falcfield, CT 00812 (205-746^318).
13. TheNitW^ICeatafoEdvcatMinMatenilandChUdHealth.
service accessibility and utilization has not been wdl
studied. Althoughfederaland state officials have long 38th and R Streeti NW, Waduitfcn, DC20057 (2DM25«0O)L
14. AOuidetoSetoetedNitionalOeoeticVoluntartOrEanliatton)
advocated that genetic services, espedally newborn
National CenterforEducation In Maternal and Child Health, 1989.
15. Ore6i0lelnRE,OarditterCB,YoungDL,eda.ThoChaUDiige
screening and APP tesdng, should be available to all
Medical
persons regardless of ability to pay, government fend- to Provltie Oenetia Services: Relniburtemest lorand ChildOenetka
Seivieci. Wuhin^on, DC: Buna* of Metenal
Health
ingforthe services has been inadequate in many areas and Rocurce Development, 1988.
of our country. For the consumer who has or is at
Id. Bernhardt BA, PyefitxRE. HID eeenomia of dinical genctla
aeivtcea. III. Cognitive eeneUcatepiceaare notieM-«upport!og. Am
risk for a genedc condition, obtaining genetic services
Ocaet IWi44:%-91
usually depends on having adequate health insurance J Hum Holtxann NA. Uw impnn ofthe federal cutback en genetic
17.
coverage for the services needed or otherwise being
•crvfce*. Ami Med Genet 19foilSdSS4&
able to afford them. Whether individuals who have or
18. Pyerlta RE. loiunnoe inuea of heritable diiordere. Birth
Dctecul986tZ2iS34X
who are at riskfora genetic condition are dispropor19. Weine(J,B«niiiaidlBA.MedlcaId(MA)eo«era(eofaboiticm
tionately uninsured or underinsured is unknown.
after prenatal diagnaalt. Am J Bum Oenet 198843^174 only. •
There are many anecdotalreportsof individuals who
are denied insurance because of a preexisting genetic
condition. For insured individuals, many needed
medical services, such as DNA diagnosis or genetic
counseling, may not be covered by insurance. Serious
gaps in coverage may rcsult in inadequate treatment or
Doctor, Flatming to Relocate?
service inequities. For example, newborn screening
If yew are mwinger plarudneto, let us know ao that you
for inherited metabolic disorders may be offered free
won't miss n aingle Imu* of Mmryland Mtdictl Journal.
of charge, as it is in Maryland, but the special formulas
Hit out the form below and maU It to:
required by the affected children may not be covered
MtafcGrfcM
by insurance. In many other states, prenatal diagnosMMJ JZlJCaUmMSttm
Mlhnmj.MD 21201
tic services for indigent women are covered Ihrough
OliAddrt*
Medical Assistance, out tbe termination of an affedod
Name:
pregnancy diagnosed through amnioccntesb is not a
AtUmu:
covered service.
CityfTtmv
Maryland is fortunate in both the comprehensive
State
Zip:.
nature of the genetic services available in tlie state and
in their relative accessibility, however, much work
HrwAdintt
remains to be done to ensure that each of Maryland's Namt:
Address:
dtizensreceivesoptimal genetic services.
6
1
9
i
9
References
OtyfTtmrn:
Stale;
Ttlephmtx
1. MaiyUfMl, Hc*lth Oenenl, Annotated Code Title 13. seetiomi 102 (10) (1987 and Repiaccment Volume 1W7).
Sipudure:
932
Date
. but*:
MMJ Yel38N«tl
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working group #40
ACADEMIC HEALTH CENTERS UNDER HEALTH CARE REFORM
BACKGROUND:
Academic health centers (AHCs), defined as the combination of an allopathic
or osteopathic medical school, one or more affiliated hospitals, and at least one
other health professional program, comprise a diverse set of institutions with
varying organization. They provide a national resource for clinical and basic
science research, education of health professionals, and the most sophisticated
and scientifically advanced patient care. This triple mission is the foundation of
AHCs, often referred to as the "three legged stool." As such they have evolved into
a unique and important resource for the overall health care system whose overall
value exceeds the some of their parts.
1
AHCs incur a number of direct and indirect costs related to their unique
missions. Direct costs include resident salaries, faculty salaries (partially offset by
volunteer faculty), fringe benefits, allied health professional training (primarily
diploma nursing schools), and educationally related expenses (eg classroom
space). The indirect costs have been much more difficult to characterize but are
thought to include payments for purported higher costs generated from the more
complex cases in a teaching hospital, additional laboratory tests ordered by
graduate medical students, extended length of stay, indirect costs of research,
limitations in risk adjustment, increased costs due to urban locations, and the costs
of maintaining access to high technology care. Although they represent less than
18% of the 6800 hospitals nationally, teaching hospitals account for a
disproportionate share of hospital care expenditures. In addition the bulk of higher
costs in urban hospitals are linked to the special missions of AHCs. Thus the
benefits afforded by AHCs come at a cost to the overall system.
2
1
.
Ebert RH and Brown SS. Academic Health Centers. New England Journal of Medicine. 1983; 308:1200-8.
2
Thorpe KE. Why Are Urban Hospital Costs So High? The Relative Importance of Patient Source of Admission, Teaching
Competition and Case Mix. Health Services Research 1988; 22:821-36.
NB: There is an extensive body of literature concerning the increased costs of teaching hospital care and the factors behind them
which I have chosen not to include here. The question concerning how much of the cost difference in teaching hospitals is case
mix instead of academically related (see Detsky references) may be germane to the options for funding discussed later.
PRELIMINARY STAFF WORKING PAPER - FOR ILLUSTRATIVE PURPOSES ONLY
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FUNDING OF AHCs
Federal Research Grants
Although the majority of older AHCs were created through philanthropy, in
the post-World War II era these institutions expanded rapidly and new ones were
established through generous federal research grant funding from the NIH. The
NIH grants were for research activities and no explicit funding to support education
and patient care was provided under this program. Nevertheless it became
standard operating procedure to divert a significant proportion of NIH research
grant funds to these other missions of the AHCs. No objections were voiced to this
situation given the relative largesse of the NIH and the academic community's
justification of the transfer as a means to support activities which, although not
strictly research related, were essential to the development of clinician
researchers.
3
From 1966-1980 an additional source of federal grant funding helped support
AHCs, capitation based grants for basic improvements in AHCs which were linked
to expansion of class sizes. During the 1970's a new austerity in NIH funding and
a gradual abandonment of the class size expansion policy in the face of diminishing
perception of a "doctor shortage" led to a drying up of these important sources of
federal support for AHCs. Although research activities continued to be funded, the
imposition of stricter accounting standards for these allocations precluded the
traditional large scale transfer of funds to other AHC missions. In recent years
cross-subsidization has become even more difficult in the face of controversies
concerning the inclusion of inappropriate expenses in indirect cost billing to the
NIH by some AHCs.
4
Third Party Payers
Until the advent of Medicare and Medicaid in 1966, the contribution of patient
care revenues to the funding of AHCs was limited because the majority of patients
on teaching services were uninsured. Medicare and Medicaid paid academic
physicians and the teaching hospitals they worked in leading to the explosive
growth of this new resource for AHC support. In order to capture these funds more
efficiently AHC administrations developed faculty practice plans (thus transferring
funds from patient care to the teaching and research missions of the AHC),
increased the number of clinical faculty in general and specifically enlisted a
3
.
Relman AS. Who Will Pay for Medical Education in Our Teaching Hospitals? Science. 1984;226:20-3.
4
.
Lee TH. Statement Regarding Indirect Cost Payment Policy. Clinical Research. 1992; 40:200-3.
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burgeoning number of subspecialists whose procedural based care was the most
lucrative under this system. While subspecialty departments and their cadre of
house staff grew under this system Family Practice residency positions declined
(from 7486 in 1984 to 7279 in 1988) despite consistent applicant interest due to the
limited abilities of these departments to generate the income to support training
programs.
5
As a result of these changes and the dramatic rise in third party payments
to hospitals over the last three decades third party payers now comprise the largest
single source of AHC support. Again there was no explicit approval of the use of
these funds for education and research but the high quality and complexity of care
from these centers and more abstract notions concerning the overall value of AHCs
to the public were invoked to justify this transfer in the rare instances when it was
questioned.
In addition to the changes in physician specialty distribution and the
implementation of practice plans, AHCs secured higher payments for their services
than non-teaching hospitals. The extra costs of delivering care in teaching
hospitals noted above were cited to justify this differential payment through the
open ended hospital care reimbursement system. Under these incentives direct
income for departments was generated, the number of full-time clinical faculty grew
and AHCs continued to expand. One AHC CEO summed up this state of affairs:
"the three-legged stool has given way to the tricycle, with the large wheel of patient
care providing the power to drive research and education."
6
Prospective Payment System
A fixed rate prospective payment system with identical reimbursement for a
given diagnosis regardless of teaching status would put enormous pressures on
AHCs for their ability to reduce costs would be hampered by their higher costs due
to their non-patient care missions. These additional costs associated with being
an academic health center were documented in the studies that were used to
develop the payment formulas incorporated in the Medicare prospective payment
system. As a result AHCs were partially supported during the implementation of
the DRG system in 1986 through the Direct Graduate Medical Education PassThrough (Medicare's subsidization of direct expenses with an institutional payment
per full-time equivalent resident historically based on 1984 costs) and the Medicare
Indirect Medical Education Adjustment (payments for the indirect costs based on
5
6
.
Colwill JM. Financing Graduate Medical Education in Family Medicine. Academic Medicine. 1989;64:154-8.
Personal communication with Dr. Jerome Grossman, CEO of New England Medical Center, 25 February 1993.
PRELIMINARY STAFF WORKING PAPER - FOR ILLUSTRATIVE PURPOSES ONLY
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statistical formula including case mix index, urban/rural adjustment, area price/wage
adjustment, bed size, and the resident to bed ratio as a proxy for the intensity of
research and teaching). It is important to recognize that the title "Indirect Medical
Education Adjustment" is a profound misnomer for these payments are meant to
support much more than education.
Current Situation
AHCs have thus far been predominantly supported by only one of the legs
of three legged stool at any given time over the last three decades. In turn the
research and then the patient care missions of AHCs have supported the overall
institution while explicit funding for the education mission has been meager, limited
to a few limited programs such as grants for primary care residency training under
Title VII. Although Medicare now funds its portion of these costs explicitly (share
is determined by Medicare patient bed days/ total patient bed days) these
payments are "buried" in overall patient care reimbursement. For the non-Medicare
payers the unique missions of AHCs continue to be supported implicitly through
higher charges to insurers by AHCs. As a result the special missions of the AHCs
continue to be funded in a cryptic manner. Table I reviews current sources of AHC
patient care revenue:
TABLE I:
SOURCES OF REVENUES FOR ACADEMIC HEALTH
(% OF GROSS REVENUES)
PAYER
MEAN
Medicare
27.69
Medicaid
18.60
Self-Pay
12.74
Commercial Insurers
20.62
BC/BS
12.20
Other**
8.15
CENTERS*
MEDIAN
27.61
16.11
7.82
18.93
10.24
19.29
*
1991 SURVEY OF 113 ACADEMIC MEDICAL CENTERS BY THE
AMERICAN HOSPITAL ASSOCIATION
**
includes welfare and other sources
THE EFFECT OF MANAGED COMPETITION
The implementation of managed competition provides a number of specific
PRELIMINARY STAFF WORKING PAPER - FOR ILLUSTRATIVE PURPOSES ONLY
4
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challenges to AHCs which could threaten their very existence. Under managed
competition AHCs would be left to compete with other providers for Health Alliance
contracts. AHCs, however, would be at a distinct disadvantage for their increased
costs due to their multiple missions leaves them unable to compete on price and
although their potential claim to quality would remain unchanged, it is not likely to
justify the continuation of cost differentials. As a result AHCs could be left without
a leg to stand on.
Managed care affiliations can potentially provide a number of advantages to
AHCs including increased utilization of clinical resources, increased referrals,
improved primary care education, increased cost awareness, increased
opportunities for health services research, and the potential of better community
care (some large HMOs such as Kaiser even have their own residency programs).
Nevertheless, there is a major philosophical schism between HMO administrators
interested in their bottom lines and viability of the HMO and academic
administrators who are interested in preserving their AHC and its unique missions.
Managed care and AHCs have disparate goals (provision of comprehensive patient
care services at a competitive price v "three legged stool" triple mission) and many
HMOs make no provision for cross-subsidies to the educational mission of teaching
hospitals. This is currently reflected in the relatively low utilization of AHC services
by managed care organizations.
7
The multiple missions of the academic health centers contribute to the
overall national welfare, but supporting these missions is not in the interest of any
particular purchaser of health care services. As AHCs come under increased
pressure to improve efficiency residency and research programs would find their
missions subsumed by an expanding service role. As a result, AHCs could become
endangered unless a means to support the costs of their non-routine patient care
missions is an integral part of our reformed health system. This led one leading
proponent of managed competition to conclude that "perhaps the most important
and lengthy change required by competitive pressures will be to revamp the entire
system of paying for medical education."
8
7
.
Hofl RH and Glaser RJ. The Problems and Benefits of Associating Academic Medical Centers with Health Maintenance
Organizations. New England Journal of Medicine. 1982; 307:1681-9.
8
Ellwood PM. Remarks to the 1980 Council of Teaching Hospitals' Spring Meeting.
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POLICY OPTIONS
In order to preserve the socially important functions that AHCs perform,
some new method of funding the higher costs associated with their special
missions will need to be found. It is these societal goods, rather than the survival
of any individual academic health center per se, which are at risk as the health care
system is changed. The goal of the new method should not be to shield AHCs
from competitive pressures. Rather, it should be to put competition on a level
playing field, by segregating AHC costs that are associated with the AHCs' unique
mission from other patient care costs. On these ordinary costs, AHCs should be
expected to compete, and it can be expected that competitive pressures and
reduced hospital occupancy rates will impact on AHCs along with other providers
of hospital services.
Over twenty years ago Dr. Robert Ebert, then Dean of the Harvard Medical
School stated "Any new method of financing medical care is likely to have a
negative effect on medical schools." With the potential threat of managed
competition to AHCs established, two general questions must be explored prior to
considering specific policies:
9
1)
Why should the public, through governmental or private third-party payers,
continue to support AHCs and their educational mission?
In the past the public service mission of AHCs was readily apparent, the
provision of charity care and education. Thus the teaching hospital performed an
important service to the community which justified external support. In an era of
universal coverage, however, the former service mission will be lost for although
the patient mix in AHCs is unlikely to change significantly, all of their patients will
be covered. As a result the loss of the charity care role will leave AHCs with the
costs of the education mission as their sole justification for the continuation of
payment differentials.
Nevertheless a cogent argument for continued support of these institutions
can be made on other grounds, the notion that medical education and AHCs are
a public good. Medicine has historically be treated as a public trust, given public
funding, and considerable autonomy.
The argument continues that since all
10
9
Ebert RH. The Impact on Medical of New Methods of Financing Medical Care. Journal of Medical Education. 1970; 45:108-
113.
1 0
Schroeder SA, Zones JS and Showstack JA. Academic Medicine as a Public Trust. JAMA.
1989;262:803-12.
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elements of the health care system benefit from the training of physicians, all
elements need to be properly taxed, directly or indirectly, to support their
training. In addition, the consideration of the training of physicians and support
of research as a public good leads to the necessary protection of AHCs in any
plans to reform the health care system. "The problem of funding medical education
probably should be viewed as part of the larger problem of funding health care in
this country... Doctors should be seen as a national resource, and we should be
willing to subsidize their education as part of a uniform national health care
program."
11
12
Although this argument has drawn little criticism in the past, cost constraints
have now led it to be challenged. With the quiet evolution of AHC funding towards
a predominant reliance on patient care revenues, their teaching, research, and
unique patient care missions have been regarded as a community responsibility.
Although AHCs have enjoyed a somewhat privileged position in the past public
pressures on these institutions is mounting. Third party payers have recognized
that the continued cross-subsidization of educational costs is an impediment for
cost control.
Even when the need for subsidizing AHCs is recognized new demands for
accountability (particularly in the wake of the scandal over inappropriate indirect
research cost billing) will continue to create a tension between AHCs and third
party payers. The specialty distribution of physicians has evolved to fulfill the
needs of AHCs yet has seemingly ignored societal needs and is particularly illsuited to the demands for cost-effective primary care inherent in managed
competition. "The unarticulated premise that medicine must be treated (funded) as
a public good but that unrestricted discretion in professional behavior and in
market activity should be preserved" is unlikely to find widespread support among
private third-party payers in 1993. These phenomena are compounded by an
erosion of the high-esteem with which the profession was regarded by the general
public. "The profession is increasingly being seen as more nearly a commercial
enterprise with vested economic interests than a calling of professionals whose
foremost concern is the well-being of the patient."
13
14
.
Axelrod D. Perspectives: A State Health Commissioner. Health Affairs. 1988; Supplement:54-7.
1 2
Angell M. Perspectives: A Medical Editor. Health Affairs. 1988; Supplement:58-62.
1 3
Schramm CJ. Perspectives: Commercial Health Insurance. Health Affairs. 1988; Supplement: 104-7.
14
.
Iglehart JK. Health Policy Report: Federal Support of Health Manpower Education. New England Journal of Medicine.
1986; 314:324-8.
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AHCs are a public good, even in the absence of their traditional charity care
role for they provide access to high quality (and often high technology) care,
contribute to research, and train physicians with the societal value of the whole
exceeding the sum of their three parts. As such it is reasonable to demand that the
support of AHCs be part of the cost of doing business in the health care system.
The insular relationship these institutions have enjoyed, however, is likely to
change with more demands on greater accountability and pressures by those who
pay for it to have a greater say in the product AHCs produce. This new
accountability is summarized in three of the recommendations of the AAMC
Committee on Financing Graduate Medical Education:
1.
The medical education community should continue to
monitor the quality of its residency training and provide
assurances that graduates of its residency programs are
adequately prepared for practice.
2.
The institutions receiving funding should recognize their
obligations to train the types of physicians needed by
society.
3.
These institutions also must recognize their obligation to
operate the training programs in a cost-effective
manner.
15
2)
Should the costs of the various missions in AHCs continue to be funded in
an aggregate fashion or should they be unbundled to expose the relevant costs of
the separate unique patient care, research and education missions?
With the exception of efforts to increase physician manpower during the '60s
and '70s and specific grants to primary care training, the unique missions of AHCs
have been supported by one of the other missions of the teaching hospital. There
are two broad alternative approaches. The first would be to disaggregate the
additional costs associated with AHCs into separate funding streams. These
separate funding streams would then be given back to the AHCs in the form of
grants or other competitive mechanisms.
Under managed competition there is a coherent argument for unbundling the
costs of patient care and education. By removing support for the educational and
research missions (with earmarked funding for this purpose) from the patient care
revenue stream, AHCs could potentially compete on price (and perhaps win on
quality) in the marketplace for selective Health Alliance contracts. By isolating
patient care costs from those of research and education AHCs would be on a level
,5
.
AAMC Committee on Financing Graduate Medical Education. Financing Graduate Medical Education. AAMC. 1986.
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playing field with their non-teaching competitors. Alain Enthoven, among others,
has favored the unbundling of teaching costs.
16
To an extent this would be the culmination of a process which has already
started. "Society is moving away from implicit cross-subsidies of AHCs societal
functions - free care, unfunded research, and education - by using de-regulation,
prospective payment, and competition to expose the network of cross-subsidies,
and by forcing each activity to stand on its own." Demands for accountability
in indirect research costs have also contributed to this phenomenon. Thus the
market is already addressing the aggregate v unbundled funding issue. Uwe
Reinhardt has also gone on record supporting the unbundling of educational costs:
"We ought never to endow the deans with a stable flow of institutional support that
insulates them from the market whose needs for human capital they are to
serve."
17
18
One of the benefits of making costs for education more explicit is the
potential to use them as a policy tool. For example, by restricting educational
funding to AHCs which meet standards for the production of primary care
physicians. While this approach appears to provide the most efficient and targeted
use of public funds, it has a number of serious problems:
o
it would expose AHC support to the vagaries of annual
appropriations and would not establish any obvious rationale for any
particular funding level or for adjustments in funding over time;
o
it could easily lead to a fight over geographic distribution of
funds and politicization of funding decisions;
o
it could more easily be portrayed as a new tax;
o
it would increase the administrative costs of AHCs, because of
the necessity for preparing applications for funding;
o
it would be difficult to determine the appropriate relative level of
funding for separate funding streams, given the current lack of
knowledge about how patient care funds are actually divided among
different AHC missions and the likelihood that proportions vary
significantly among different AHCs.
In fact many educators would argue that the unbundling of educational costs from
research and patient care activities would be extraordinarily difficult and largely
1 6
Enthoven A. Background Information and Selected Readings, Committee on Financing Graduate Medical Education.
AAMC. November 1984.
17
1 8
.
Grossman JH. Perspectives: A Teaching Hospital. Health Affairs. 1988; Supplement:70-7.
Reinhardt UE. Perspectives: An Economist. Health Affairs. 1988; Supplement:96-103.
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artificial given the involvement of faculty in multiple missions with a blurring of the
boundaries between them. The AHA has stated that "clinical training is an integral
part of graduate medical education; the educational function cannot therefore be
separated from the patient care function." In a separate report it was noted that
it was impossible to identify and quantify the costs for all societal contributions of
teaching hospitals with sufficient accuracy on an institution by institution basis.
19
20
The second alternative would be to use an aggregate funding approach
based on add-ons to the patient care revenue stream. This approach would result
in the least disruption to individual institutions and to the system as a whole
because it would largely duplicate current payment patterns. In addition it
separates funding issues from other policy goals. For example, in setting priorities
government and private third party concerns are likely to favor patient care
concerns over research and educational ones, resulting in the erosion of these
important missions of AHCs. Although the AAMC Generalist Physician Task Force
recommended that AHCs change radically in terms of producing a greater
proportion of primary care physicians they suggested using great care in using
education reimbursement as a tool for achieving this end. These concerns over
the vulnerability of AHCs under unbundled education reimbursement led the AAMC
Committee on Financing Graduate Medical Education to suggest that revenues
from patient care payers should continue to be the principal source of support for
graduate medical education.
21
14
Although the need to change AHCs for new missions under managed
competition the working group recognized that it is questionable whether
unbundling educational and research costs and exposing them to external
manipulation is the ideal means to accomplish the task. Beyond these practical
considerations is the argument that "throughout the economy, the costs of
employee training are part of the price that the consumer pays, for the most part
unwittingly..." As a result we concluded that it is not only practical but inherently
reasonable to incorporate the costs of education into those of patient care.
21
Options Not Pursued:
Working group #40 discussed, and subsequently rejected, a number of
options for funding the unique missions of AHCs. These included:
1 9
Health Reform and Primary Care: Physician Training Exposes Tensions in the Field. Hospitals. 1992; May 20:20-4.
2 0
Colloton JW. Academic Medicine's Changing Covenant With Society. Academic Medicine. 1989; 64:55-60.
21
.
AAMC Generalist Physician Task Force, Executive Summary. 1992.
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1.
Continue the present system of cost differentials from third party
payers to subsidize AHCs.
Uwe Reinhardt summed up the current situation of the "funds-driven
industrial complex" by stating: 1) the industry produces too much output...2)it
produces the wrong mix of output, 3) it produces whatever output it does
inefficiently; and 4) it is improperly financed." The system, as it presently stands,
is thus dysfunctional with little concordance with societal needs, has contributed
to exploding health care expenditures and will be a target for reform under
managed competition.
8
2.
Have AHCs compete in the marketplace with no specific subsidies for
their educational mission.
The profession is being increasingly perceived as a commercial enterprise
with vested economic interests as opposed to being perfect patient agents and the
AHCs which train them would be exposed to the pressures of the market. Even
with radical changes in curriculum and "downsizing" these institutions would be
unable to compete without the near total abandonment of the education mission
because of its considerable costs. Pressures for cost-containment make sufficient
voluntary subsidies unlikely. It is crucial that high quality teaching and research
programs flourish regardless of changes in the health care financing system. Loss
of the AHC to the market via this mechanism would be too high a price to pay.
22
3.
Have Medicare increase its share of AHC funding to offset the loss of
private third-party payer support.
The AAMC Committee on Financing Graduate Medical Education suggested
that Medicare continue to be "a keystone" in assuring support for graduate medical
education but that other sources of funding need to continue. Leaving Medicare
as the sole source of funding for the unique missions of AHCs leaves these
institutions vulnerable to cutbacks.
14
4.
Create a separate government program to finance medical education.
Explicit support of the unique patient care, research, and educational
missions, and perhaps the creation of a bureaucracy to do so would be a
fundamental change in the relationship between AHCs and the federal government.
"From the beginning, Congress has been concerned with the provision of medical
care and not with the subsidy of medical education or the general support of
academic health centers." Other developed nations support the unique missions
of AHCs in this manner. The overall financial impact of government funding of the
AHC teaching mission on aggregate health care expenditures, however, is
1
2 2
Iglehart JK. Federal Support of Health Manpower Education. New England Journal of Medicine. 1986; 314:324-8.
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unknown. The Canadian experience indicates that the effect of government support
on teaching hospitals' costs may be minimal with similar growth in hospital costs
and real inputs in both teaching and non-teaching hospitals and the maintenance
of higher base cost differentials in the former. An observer of the experience of
AHCs with global budgeting in Ontario commented that "separating the higher costs
of teaching hospitals into these two components (patient-related and academic)
may not be a wise strategy since the research and educational activities may
become politically vulnerable in times of economic hardship."
In Germany
hospitals designated as teaching hospitals are needs planned by states. The
federal government pays for 30% of per diem costs at these institutions to offset
educational costs in a direct lump sum (the thirty percent figure was arrived at
through negotiations with sickness funds which wanted to pay for the care of sick
people, not teaching and research)
The creation of an earmarked tax would be
less popular than deriving the funding from general tax revenues but the potential
public outcry against supporting the training of professionals who will go on to
make a comfortable living will make any general taxation option a contentious one,
even if the societal needs for physicians and the types of services they offer would
be better served.
23
2 4
5.
Have state and local government take on a greater role in funding AHCs.
Local funding would force AHCs to be responsible to the communities which
they are to serve. Although AHCs are best appreciated on a local level, the
potentially huge burden of supporting a first rate AHC on communities or states
could prove unbearable. Some particularly financially strapped areas, such as
inner-cities, presently have the greatest reliance on AHCs yet are the least
equipped to support them. The unequal distribution of residents and interstate
migrations make state plans even less attractive. Local funding options would also
leave the system vulnerable to more pronounced regional variations in AHCs as a
function of the comparative wealth of the particular region.
6.
Have private foundations and/or University affiliates and/or the AHCs
themselves support their unique missions.
Since many AHCs are already cash tight this alternative would severely
threaten an already tenuous situation in some instances. Most AHCs are already
actively engaged in endowment drives with no clear expectation of a major increase
in funding from philanthropic sources on the horizon. Although an appeal for more
voluntary faculty is potentially helpful faculty costs are only a fraction of the total
23
.
Detsky AS et al. Global Budgeting and the Teaching Hospital in Ontario. Medical Care. 1986;24:89-94.
Z4
. •
Personal communication, Prof. Michael Arnold, University of Tubingen, Tubingen, Germany, January 24 1993.
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costs of graduate medical education. Reliance on greater financial support from
admitting physicians could discourage patient admissions by some private
practitioners who have non-teaching admitting options. This added burden on
academic clinicians would provide a disincentive to teach and do research,
particularly in primary care. Although there has been some experience with AHCs
forming their own managed care plans (eg the George Washington University
Health Plan) their ability to compete under a system of managed competition is
unknown. Subcontracting out high cost tertiary care could generate funds for
AHCs but these services are likely to be targeted by reform and a reliance on such
services would relegate research and education to tertiary care settings only, an
outcome which would be counter-productive to the long term goals of health care
reform.
25
7.
Have a shared payment system, with physicians bearing significantly
more costs of their training.
Although this option may have some public appeal due to the decreasing
esteem with which physicians are perceived, it would have a number of pernicious
manpower effects. Such a policy would directly discourage students without
financial means to pursue a career in medicine. For those that did decide to
choose a medical career, the increased indebtedness or opportunity cost of not
being paid during the training years would augment the prevailing incentives
favoring subspecialization. In addition, such a solution would take care of only the
increased costs of AHCs related to their teaching missions and would do nothing
to help fund the other unique missions of AHCs which leave them unable to
compete.
PROPOSAL:
We propose the creation of an all-payer fund financed through a regionally
based premium surcharge to reimburse these special missions of academic health
centers as an add on to the patient care revenue stream. If medical education is
a public good, but private third party payers disproportionately benefit from it, then
third party payers should help share the costs. In addition AHCs may provide
some specialized services to which all enrollees will want to have access.
The AAMC Committee on Financing Graduate Medical Education suggested
that all health care payers, including medicare should continue to provide their
25
.
Corrigan JM and Thompson LM. Involvement of Health Maintenance Organizations in Graduate Medical Education.
Academic Medicine. 1991; 66:656-61.
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14
appropriate share of support for graduate medical education. Although funding
through a single government source has the appeal of simplicity the disparate
missions of AHCs (research and education) and public programs in general (the
welfare of the population), would be a clear threat to AHCs' varied missions.
Nevertheless direct government support for specific programs with clearly defined
goals (eg increasing the proportion of primary care physicians) and through the
current Medicare mechanisms should be continued.
Since third-party payers have established a history of indirectly supporting
the educational mission through differential payments they could be called on to
contribute a portion of enrollment fees to offset the cost of this mission as long as
that burden were spread fairly to avoid making plans with AHC affiliations
uncompetitive. These contributions could be thought of as part of the cost of
doing business which best meets the needs of managed competition. The
breakdown of responsibility for funding between governmental (mainly Medicare)
and private third-party sources would need to be negotiated between these groups.
One starting point would be the historically based breakdown between these
payers. There would be some loss of autonomy and AHCs would be less insular
but external pressures would have to come indirectly via managed competition
system so that they would be similar to those faced by other portions of the health
care system. In addition they would give some agency to third party payers who
have been "footing a sizable proportion of the bill without asking many questions
about how their money is spent."
26
Our preferred alternative would be to use an approximation of the Medicare
add-ons and capitation payments as the basis for determining both the level of
funding for the AHCs' social missions and the distribution of funding among
different institutions. This approach has several virtues:
o
It does not represent new money but instead captures money
already in the system to finance this public good explicitly;
o
The level of funding would be determined by a formula, rather
than by year-to-year appropriations decisions, and would be based on
an estimate of excess costs that has both a precedent and a research
basis. The formula based allocation provides flexibility for adjustment
and relies on data which is currently collected;
o
The approach would result in the least disruption to individual
institutions and to the system as a whole, because it would largely
duplicate current payment patterns;
2e
.
Iglehart JK. Health Policy Report:
Medicine. 1985;312:1400-4.
Difficult Times Ahead for Graduate Medical Education. New England Journal of
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o
As patient care loads dropped or individual institutions failed to
compete successfully, both aggregate and individual institution
funding would automatically adjust. Payments would also adjust in
response to aggregate controls on residency slots;
o
A tap on premiums is more fair to insurers and employers as a
simple replacement of costs already in the system;
o
The approach is compatible with and does not disturb incentives
proposed by other working groups and can easily be integrated with
them.
FINANCING AND ALLOCATION:
We propose the following to implement our all-payer fund:
o
Finance add-ons by a surcharge on insurance premiums in the
region served by the AHC. Per cent surcharge to be determined
based on anticipated use of AHCs and adjusted retrospectively based
on actual use.
o
Contribution of funds by tap on other regions based on actual
utilization of out of region AHCs.
o
Use the current Medicare formula or a modification of this
formula to determine add-on payments to AHC for patient care. The
formula would control for area price/wage index, location, case mix
index, hospital size, and the intensity of research and teaching.
Payments for the direct costs of medical education would be via the
current capitation mechanism.
o
A timetable and periodic review of the formula will be built into
the legislation as well as standards for improved accounting for these
special missions by AHCs.
Two major sources of funding for graduate medical education and AHCs
could undergo significant revisions as part of or independent of managed
competition, Medicare and the VA system. If Medicare is phased out with a shift
to Health Alliances the latter would need to assume greater suppon of AHCs in the
absence of a government fund to make up the loss. Any change in the VA system
would also lead to modifications of the above. A symbiotic interdependency
between the VA and AHCs has evolved which has proven remarkably stable. "Of
all of the federal health-manpower training programs [one federal official] viewed
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the tie between the VA and medical education as presently the most secure."
27
ADDITIONAL POLICY DECISIONS:
If our proposal of an all-payer fund with formula allocation is adopted,
additional questions must be answered to effectively implement the policy. These
include what level the fund should be organized and disbursed on, how large the
fund should be, and what formula should be used for its allocation.
BASIS FOR FINANCING AND ALLOCATION OF AHC SUPPORT
I.
STATE PROGRAM
Rationale:
o
Organization on this level will allow the program to be reflective
and responsive to more local needs.
o
A state program will recognize significant state by state
variations in utilization of AHC services.
Mechanism:
o
Each state would have to finance their in state AHCs via a
premium tap.
o
Contribution of funds by tap on out of state plans who send
patient to an AHC based on actual utilization of AHCs by plans in other
states.
Advantages:
o
Since all politics are local state level organization will be an easy
sell to those states which have no or few AHCs (eg Wyoming).
Disadvantages:
o
AHCs service areas do not respect state borders (eg DC area
AHCs)
o
There is a significant "donor state" problem whereby a few
states (eg Massachusetts and New York) train a disproportionate
share of graduate physicians who then leave to practice elsewhere.
In a state organized system these states would be significantly
penalized for this national service.
o
In addition to the "donor state" problem there is a free rider
problem in terms of research because states with no or few AHCs will
27
'.
Iglehart JK. The Veterans Administration Medical Care System and the Private Sector. New England Journal of Medicine.
1985; 313:1552-6.
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utilize the results of AHC generated research without contributing to
its funding.
o
There will be a strong incentive against transferring patients out
of state for necessary AHC based care.
II.
REGIONAL PROGRAM
Rationale:
o
Organization on this level will allow the program to be reflective
and responsive to regional needs.
o
A state program will recognize significant regional variations in
utilization of AHC services.
Mechanism:
o
To limit the potential for geographic inequities (eg Wyoming
subsidizing Boston teaching hospitals) the fund will be organized on
a regional basis.
o
To deal with transfers of patients from one region to another a
national mechanism for transferring money from one fund to another
retrospectively will be established.
o
Finance add-ons by a surcharge on insurance premiums in the
region served by the AHC. Per cent surcharge to be determined
based on anticipated use of AHCs and adjusted retrospectively based
on actual use.
o
Funds could be distributed to AHCs or consortia at local option,
o
Contribution of funds by aggregate tap on plans outside the
region based on actual utilization of AHCs by plans in other
geographic areas.
o
Institute rules to prevent plans in other geographic areas from
systematically discouraging use of out-of-area AHCs by patients,
o
Determination of service areas and areas to be tapped.
Advantages:
o
Minimizes the potential for fighting over political interests yet
preserves a degree of variation across the nation.
Disadvantages:
o
Rules to prevent discrimination must be implemented,
o
Entity to collect and disburse payments must be created,
o
Regional map must be drawn.
III.
NATIONAL PROGRAM
Rationale:
o
The unique missions of AHCs represent a national resource and
should be funded as such.
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o
The health care workforce is a national one and the benefits of
research are best appreciated on a national level.
Mechanism:
o
AHCs non-patient care missions will be supported from a fund
created through a premium surcharge assessed to all payers,
o
If premiums go down nationally the fund would as well,
subjecting AHCs to the demands for efficiency that the rest of the
system experiences.
Advantages:
o
Unlike the present system, the burden would be spread evenly
across all plans (and ERISA would have to be modified so self-insured
companies paid their share) it would not interfere with competition,
o
AHCs would face external pressures via the managed
competition system instead of political interests.
Disadvantages:
o
National organization will leave the program vulnerable to state
and regional political rivalries and concerns.
SIZING THE POOL FOR AHC SUPPORT
What It Pays For:
o
Indirect Costs Of Teaching: Increased use of ancillary services and extended
length of stay.
o
Indirect Costs Of Research: Interim support bridging between grants and
infrastructure support beyond NIH overhead payments which is not currently covered
by research "overhead" funding in grants.
o
Costs Of Maintaining Unique Patient Care Mission: Maintaining access to high
technology care.
o
Limitations In Risk Adjustment: The inability of reimbursement mechanisms
to control for subtle but important differences in severity.
o
Increased Costs Faced By Teaching Hospitals: Due to higher factor prices
from location and unique missions.
o
Direct Costs Of Education: Salaries for residents and faculty.
What It Doesn't Pay For:
o
Direct and Indirect Costs Of Patient Care Other Than Those Noted Above,
o
Patient Care Costs Of Clinical Research.
o
NIH And Other Support For Research And Research Related Overhead.
o
Medicare's Share Of These Costs Which Will Continue To Be Funded Through
The Current Medicare Mechanisms.
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28
Size Of The Pool :
Direct Costs Related To Education:
o
Direct costs of Education: These would be distributed by the Medicare
capitation mechanism or its modification as per the workforce working group (#12).
Medicare DME payments in 1992 = $1.3 Billion, therefore the fund for
the remaining 70% would have to be $3.0 Billion
Indirect Costs Related To The Unique Missions Of Teaching Hospitals:
A.
Basing the size of the pool on the costs per adjusted case of academic health
centers v non-teaching hospitals:
o
The incremental cost of the unique missions of AHCs has been
estimated at 33% plus the direct costs of education, for major nonuniversity teaching hospitals it is 18% plus the direct costs, and for
other teaching hospitals it is 9% plus the direct costs. 28
30
TYPE OF HOSPITAL
AHC
MAJOR TEACHING
OTHER TEACHING
TOTAL
B.
NON-MEDICARE REVENUE
$18.8 B
$5.35 B
$23.8 B
31
ESTIMATE OF COST DIFFERENTIAL"
$6.20 B
$0.96 B
$2.14 B
$9.30 B
Basing the size of the pool on the present Medicare IMEA reimbursement:
o
At the present time 30% of Medicare payments to academic
health centers are for the non-routine patient care missions.
Medicare indirect adjustments in 1993 = $3.7 Billion, therefore the
fund for the remaining 70% would have to be $8.6 Billion.
Total Support From Non Medicare Sources For Academic Health Centers:
o
$3 Billion (DIRECT) + $9.0 Billion (ESTIMATE OF INDIRECT) = $12 Billion
o
If each percent of premium surcharge generates $6 billion then the national
average of the regional surcharges would = 2.0% (generating a $12 Billion pool).
2 8
Medicare currently explicitly funds a portion of these direct and indirect costs determined by the ratio of Medicare bed
days / total bed days. This ratio is currently approximately 30%. These estimates are preliminary and are currently being refined.
29
.
ProPAC defines "major" teaching hospitals as those with an IRB (interns and residents to bed) ratio of at least 0.25. This
includes approximately 215 hospitals of which the majority (60%) are AHCs.
3 0
Cameron JM. The Indirect Costs Of Graduate Medical Education. New England Journal of Medicine. 1985; 312:1233-8.
Estimates of the indirect costs of the unique missions of teaching hospitals were broken down into three categories: 1) University
Hospitals (AHCs), 2) Major Teaching Hospitals (with an IRB > 0.10 and at least two major teaching programs (eg Medicine and
Surgery), and 3) Other Teaching Hospitals. Unfortunately these categories are not reported using the same classifications as
ProPAC and the estimates here rely on extrapolation. Data making these categories consistent is currently being prepared by the
AHA.
31
.
A recent estimate from a study of Massachusetts hospitals found that AHCs' casemix-adjusted average charge by DRG
categories were 37% higher than those of non-teaching hospitals.
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FORMULA FOR ALLOCATION OF AHC SUPPORT
A formula to provide AHCs an add-on to patient care reimbursement is proposed to meet this
task. It is important that the title and legislation creating the formula recognize that it is meant to do
far more than just cover the indirect costs of education. Formula allocation offers a number of
significant advantages including:
o
Builds on the present system established by the federal government through
Medicare.
o
These funds for the multiple missions of AHCs would continue to be part of
the patient care revenue stream from which they cannot be practically separated,
o
This system implicitly funds all of the missions of AHCs whose cost prevents
them from competing on a level playing field without trying to artificially isolate them
and expose them to politicization.
o
Simplicity. It builds on the current system and uses established mechanisms,
o
Flexibility. The formula can be adjusted relatively easily to ensure that the
playing field is kept level during the transition period so that AHCs do not enjoy an
advantage in managed competition because of this funding,
o
Does not require a massive new bureaucracy.
o
Recognizes the difficulty in unbundling costs and provides an aggregate
solution to the problems of funding them.
32
33
What Should Be Included In The Formula - :
o
Urban/Rural Location: AHCs are often, but not always, located in inner cities
where they face increased expenses not accounted for in area price/wage index,
o
Case Mix Index: The characteristics of the patient population who uses the
AHC.
o
Beds: Bed size represents the scale of a hospital's operation.
o
Intensity Of Education: To reflect differences in medical practice and input
costs that are not captured by other variables.
o
Factor Prices: AHCs costs for their multiple missions are related to the factors
of production (nurses, supplies, electricity, etc.). As a result area price/wage index
must be included.
Other Variables Which Could Be Included In Model:
o
Intensity Of Research: To help support infrastructure development and
research cross subsidization (like the Biomedical Research Supplemental Grant).
Important Decisions Which Will Impact Formula Structure And Implementation:
o
State v regional v national fund.
o
Transition Timetable: Some variables may need to be adjusted/phased
out/added.
o
Modification Of Intensity Measurements: Although the use of the interns and
32
.
Anderson GF, Lave JR. Financing Graduate Medical Education Using Multiple Regression To Set Payment Rates. Inquiry.
1986; 23:191-9.
3 3
Lave JR. The Medicare Adjustment For The Indirect Costs of Medical Education: Historical Development And Current
Status. Association of American Medical Colleges. 1985.
PRELIMINARY STAFF WORKING PAPER - FOR ILLUSTRATIVE PURPOSES ONLY
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working group #40
resident per bed ratio (IRB) continues to prove a valuable adjuster on an empirical
statistical basis, the reasons why it explains so much of the variation in AHC costs is
not completely known. Despite modest research efforts to improve the formula, a
means to improve its accuracy has not yet been found. It is important to note that
the IRB variable captures much more than just the costs of training and that residents
do not generate all of the costs that this covers. It is best to conceive of the IRB as
a proxy for a number of factors relating to the increased costs of AHCs such as
imperfect risk adjustment. Over time it is envisioned that other hospital based trainees
(nurses, therapists, etc.) should be included in a weighted sum of training. The
denominator could also be modified to account for and promote research and
education in outpatient settings by using a weighted index for inpatient bed days and
outpatient visits to align incentives. As a first step support residents (radiologists and
pathologists) who make minimal contributions to costs, could be excluded from the
numerator. Nevertheless the search for a better proxy for capturing the variation
in costs between teaching and non-teaching hospitals must continue,
o
Self-Correction: A timetable for periodic review of the formula and a program
to facilitate its future improvement must be built in to the legislation.
34
35
OTHER ISSUES / TRANSITION ISSUES
Who Should Receive These Funds:
In general, the center incurring the costs for the unique missions of AHCs should receive the
funds to cover them. The working group recognized a great deal of diversity between and within
institutions regarding the locus of these costs. As a result we recommend that funds be distributed
to AHCs or consortia at local option.
Timetable For Phase-In:
It is important that the implementation of the all payer fund be coordinated with other aspects
of health care reform, particularly universal coverage. A rapid phase in could result in windfalls for
AHCs and lead to over-utilization of their services while a delay in insuring these costs are covered
could lead to financial failure of some AHCs independent of their ability to compete on the "level
playing field." Tying the phase in to reduced hospital charges by AHCs or market penetration of
competitive AHPs could provide a mechanism for the phase in.
CONCLUSIONS
Academic Health Centers provide a number of important benefits to our health care system
and deserve to be funded for these societal missions as part of health care reform. The proposal
presented here provides a means for financing and allocating this funding with the specific aim of
supporting the unique missions of AHCs and allowing them to be active participants in competition.
The funding mechanism presented is not meant to supplant other current funding sources for these
missions including research grants and Medicare; these must continue. The fund discussed here is
instead meant to supplement these other funding sources in an explicity manner which will replace
the implicit funding through higher charges to insurers by AHCs in the current system. The system
34
3 5
.
Personal communication with Joseph Newhouse, Harvard University, 23 April 1993.
Personal communication with Judith Lave, University of Pittsburgh, 23 April 1993.
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21
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working group #40
proposed will thus subject AHCs to the incentives of the overall reformed health care system while
allowing their societal missions to continue to provide important and unique benefits to the American
public.
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22
�
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Health Care Reform
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2006-0810-F
Description
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<p>This collection consists of records related to Hillary Rodham Clinton's Health Care Reform Files, 1993-1996. First Lady Hillary Rodham Clinton served as the Chair of the President's Task Force on National Health Care Reform. The files contain reports, memoranda, correspondence, schedules, and news clippings. These materials discuss topics such as the proposed health care plan, the need for health care reform, benefits packages, Medicare, Medicaid, events in support of the Administration's plan, and other health care reform proposals. Furthermore, this material includes draft reports from the White House Health Care Interdepartmental Working Group, formed to advise the Health Care Task Force on the reform plan.</p>
<p>This collection is divided into two seperate segments. Click here for records from:<br /><a href="http://clinton.presidentiallibraries.us/items/browse?advanced%5B0%5D%5Belement_id%5D=43&advanced%5B0%5D%5Btype%5D=is+exactly&advanced%5B0%5D%5Bterms%5D=2006-0810-F+Segment+1"><strong>Segment One</strong></a> <br /><a href="http://clinton.presidentiallibraries.us/items/browse?advanced%5B0%5D%5Belement_id%5D=43&advanced%5B0%5D%5Btype%5D=is+exactly&advanced%5B0%5D%5Bterms%5D=2006-0810-F+Segment+2"><strong>Segment Two</strong></a></p>
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Clinton Presidential Records
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William J. Clinton Presidential Library & Museum
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Briefing Book on Academic Health Centers [2]
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Health Care Task Force
General Files
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2006-0810-F Segment 1
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Box 47
<a href="http://clinton.presidentiallibraries.us/items/show/36144" target="_blank">Collection Finding Aid</a>
<a href="https://catalog.archives.gov/id/12090749" target="_blank">National Archives Catalog Description</a>
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Clinton Presidential Records: White House Staff and Office Files
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William J. Clinton Presidential Library & Museum
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Adobe Acrobat Document
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5/5/2015
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42-t-2194630-20060810F-Seg1-047-010-2015
12090749