AMERICAN ACADEMY OF PEDIATRICS
The Task Force on Genetic Screening
The Pediatrician and Genetic Screening (Every
Pediatriciana Geneticist)
From time to time, the American Academy of
Pediatrics has issued statements@' on the role of screening infants for certain types of hereditary
disease. Although these statements remain valid
in their broadest objective, some of the specific
ways and means have altered with the passage of
time. Moreover, society is now more concerned
about genetic screening as a public endeavor with a potential not only for good but also for harm.
There has been much debate about genetic
screening—some of it informed, some of it
emotional. In response to the growing concerns
about genetic screening, the National Academy of
Sciences (NAS) published a comprehensive report
on the topic.4 Its recommendations are published as an Appendix to this statement. The American
Academy of Pediatrics has convened a Task Force
to consider the specific implications of the NAS
report and its relevance for pediatricians and
their associates. The Task Force's most important
recommendation is that a standing committee be
established to provide expert, ongoing advice on
this pervasive and complex subject.
DEFINITIONS AND RATIONALE
Screening in the medical context can be in
formally defined as an investigation initiated for reasons other than in response to a patient's
problem or request for help. The formal defini
tion3
@ considers screening as “¿thepresumptive
identification of unrecognized disease or defect by the application of tests, examinations or other procedures which can be applied rapidly. Screen
ing tests sort out apparently well persons who probably have a disease from those who probably do not. “¿The screening may be large-scale, and
encompass a whole population (mass screening);
or it may be selective and directed at a high-risk
subgroup. Screening may encompass case finding
which, in contrast to epidemiologic surveys, is the testing of patients to detect incipient or estab lished disease and to bring patients to the highest standards of care available (and counseling in genetic screening).
Diagnosis is a specific activity by which the cause for a finding is sought and defined. Screen ing should be distinguished from the traditional surveillance activities of pediatrics. Screening is usually a short-term, cross-sectional activity; surveillance tends to be a long-term vigil over the
health of persons and populations. The patient
(and
family)
must
realize
that
screening
does
not
confer an “¿immunity―to the condition being
screened; for example, a negative screening test
for cancer does not eliniinate a later appearance of cancer.
Genetic screening is a search in a population
for persons with genotypes (and phenotypes)
known to be associated with a disease, which may
lead to disease in their descendants, or which may produce initially “¿silent―variation but in a partic
ular environment may incur a specific high risk
for the later appearance of a disease. Accordingly, the objectives of genetic screening are4:
(1) To provide opportunities for medical inter
(2) to provide opportunities for counseling about
reproductive options; and
(3) to collect data pertinent to public health
policy and basic knowledge (research).
Mass screening of newborn infants for the
occurrence of hyperphenylalaninemia is a form of
case finding proceeding to specific diagnosis and treatment of probands with phenylketonuria; it is
an example of the first objective of genetic
screening. Selective screening among the Ashken
azim for carriers of the Tay-Sachs gene is an
example of the second objective. Prospective
screening to examine the epidemiologic compo
nents relevant to persons carrying the genes
which cause hyperlipidemia or a,-antitrypsin
deficiency is an example of the third objective. All persons carry and can pass on mutations in their germ cells. We are said to be different, one
from another, in our genomes at perhaps as many
as 200,000 nucleotide pairs. Most of these muta
tions are inherited; a few arise de novo during our lifetime. Most are silent or “¿neutral―and they are usually present as polymorphisms, which means that they occur in more than 1% of the popula
tion.8
Pediatricians, as the foremost exponents of
preventive medicine, will play an increasing role
in the counseling of persons who possess genes
which place them at elevated and specific risk for various types of disease. These diseases include
not only the inborn errors of metabolism, which
are the subject of previous Academy statements, but also chromosomal aberrations, multifactorial birth defects, and diseases of later life which have
important genetic components. An estimated one
in ten live births manifests some handicap, minor
or major, which has a genetic component.― Only
7% of pediatricians perceived this frequency in a recent survey of physician attitudes. ‘¿Â°Whereas pediatricians may feel that genetic disease is an infrequent component of their practice, a recent survey'― reveals that, in fact, 30% have had
significant, frequent experience with genetic
disorders in children. Up to one in three pediatric admissions are for birth defects, congenital mal
formations, and disease with some degree of
genetic content pertinent to diagnosis, counsel ing, and treatment. Pediatricians will also need to
know the specific risks their patients incur and
what medical procedure and information can
reduce the prevalence of some common adult
medical problems. Ongoing research is being
carried out to determine, for example, whether
childhood expression of genes causing hyperlipi
demia will influence early-onset coronary heart
disease, whether genes determining aryihydro
carbon hydroxylase activity will have any bearing
on lung cancer, and how many genes determine
our responses to drugs. The rationale for genetic
screening as a significant pediatric endeavor in
many areas will be even more obvious than it is
now as this research unfolds.
PRINCIPLES, PRACTICE,AND PROCESS
The fourth edition of McKusick's Catalogues of
Mendelian Inheritance in Man―lists 2,336 condi
tions—apparently inherited in autosomal domi
nant, autosomal recessive, or X-linked manner. In 1,142 of these conditions, the inheritance pattern is assured. This enumeration is far greater than we
have learned to expect from the simpler com
pendia of inborn errors of metabolism'2 or of
inborn errors of ‘¿â€˜¿Homozygotes
with Mendelian autosomal recessive disease are
encountered “¿rarely―by the physician; they vary
in frequency downward from 1 per 10,000 per
sons (with the important exceptions of conditions such as sickle cell disease, $-thalassemia major,
and cystic fibrosis in specific populations).
However, heterozygous persons, themselves us
ually at little or no risk for the disease but who
can benefit from screening and counseling,
appear at corresponding frequencies which are
much higher—from 2 per 1,000 persons up to sev
eral percent of the population. Consequently,
genetic screening is not an exercise in rare trait
enumeration; it involves genes, their potential
effects, and many people who will need advice
about the significance of their genes for them
selves and their offspring.'4 The real problem will
be to keep abreast of the enumeration and to
know what should be done in response to positive
signals if genetic screening becomes more wide
spread.
The Pediatricianas Screener
The pediatrician participates in genetic screen
ing at many levels. His examination of the
newborn infant is a form of
@ A number
of inborn errors of morphogenesis and monogenic
syndromes (e.g., achrondroplasia and osteogenesis
imperfecta), multifactorial congenital malforma
tions or syndromes, and chromosomal aberrations with empirical recurrence risks (e.g., bilateral
dislocated hip and Down's syndrome) can be rec
ognized at birth. The pediatrician acts on these
findings and initiates the chain of events leading to confirmation of diagnosis and genetic counsel
ing. The risk of recurrence among sibs of the
proband is generally high (e.g., 25% to 50%) in the
AdditionalResourcesfor Genetic Screening
Responsibility to the subject does not cease
with the execution of an impeccable screening
test. There are three further levels of commit ment.'''
(1) Retrieval of the Person With a Positive
Test—Evaluation of screening programs has
revealed that follow-up rates are far below 100%
in some programs; and delays in finding the patients are not always compatible with optimal medical intervention for the target disease.
(2) Diagnosis—Confirmation of the positive screening test is required before any further steps are taken. Precise diagnosis must be attained. For example, it is appropriate to treat phenylketonu
na, but benign hyperphenylalaninemia does not
require treatment. Both conditions are detected in the neonatal period by a screening test which signals “¿hyperphenylalaninemia.― Genetic heter
ogeneity, where several, different mutant alleles
(alternate
forms
ofagene)
may
cause
agiven
phenotype, must always be considered in the
interpretation of a positive screening test. Experi ence with such interpretation at the present time is most likely to be found at regional genetic centers, which can be consulted by pediatri cians.
(3) The Re@onsibility of
Counseling and
Treatment—Management of some genetic diseases
can be readily handled by the pediatrician;
management of others places inordinate demands
even on established teams of experts.'
Frequent monitoring of the patient, readiness to
handle the myriad problems of the family
abruptly faced with a chronic genetic illness, and
the need to adjust the environment repeatedly to
neutralize the effect of the mutant gene and to
meet the changing physiological requirements of
the growing infant or child can tax the busy
practitioner. For these and other reasons, many
pediatricians welcome the regional genetics
centers to help them through the year-to-year and
day-to-day management
of the patient;
at the
same time, their special knowledge of the patient
can be applied in the best interests of problem
management.
OBJECTIVESOF SCREENING
The development of effective genetic screening programs should be matched to the desired objec tives. The Task Force found no simple or uni versal rules for screening which satisfied all objec tives or which answered all questions of pediatri cians at once. Each component of a screening
Mendelian disorders; but even the lower recur
rence risks (e.g., 5% to 10%) which pertain to
many of the multifactorial congenital malforma
tions cause concern to families and must be interpreted to them. The pediatrician's objective
is to show the way to reduce the burden of genetic
illness in the family at risk.''
Many forms of genetic disease are not suscep
tible to clinical recognition prior to the time harm has been done to the proband. And, there is need for a specialized methodology to screen for bio chemical aberrations which can lead to disease in the absence of medical intervention. This type ofscreening has been the subject of previous
Academy statements. Although new devel
opments in medical education can help pediatri
cians become increasingly familiar and comfort able with the broad issues and details of medical genetics,
@ Ucoirimunity-centered and regionalized
programs will bring the required assistance for mass and selective screening. The limits of screen ing for inherited disease should be “¿setby the usefulness of the knowledge gained, the costs of obtaining it and its impact on persons tested rather than on the number of tests that can be devised. ‘¿â€˜¿
Criteria for ScreeningTests
The essential criteria for a screening test are that it be reliable, consistent, and accurate; and it must have a high specificity (fraction of healthy persons excluded from detection by the test) and high sensitivity (fraction of affected persons recognized by the test). If the test is designed for mass screening, it should be capable of some degree of automation. The screening procedure
should 1)esubject to a minimum of clerical error;
and the handling of saniples in the field should not
significantly alter their relevant biological properties. Pilot studies should always be performed in
the region where screening will be established to validate the screening method when medical in tervention Or counseling for reproductive options are the ultimate objectives of the screening pro gram. The attendant social, legal, ethical, and economic issues must all be taken into considera tion.
program should be evaluated, taking into consid
eration the regional resources and population
being served.
Screeningfor MedicalIntervention
Screening tests have been devised which detect
biochemical (metabolic) aberration or enzyme
deficiency in probands prior to the development
of disease. Tests for such conditions as hyper
phenylalaninemia, hypertyrosinemia, homocys
tinuria, histidinemia (and histidinuria), galacto semia, gal-1-P-uridyl transferase deficiency, and
thyroid hormone (T4) deficiency have been
applied in the early neonatal period for this
purpose. The history of how screening tests for
hyperphenylalaninemia in the newborn infant
came to be widely used has been reviewed and
interpreted elsewhere. ‘¿As physicians who care
for children, we need to anticipate other appro
priate screening tests which could be applied in
our community. Because those questions have no
simple answers, the Task Force has recommended
a committee mechanism to generate such infor
mation.
The specific issue of T4 screening illustrates
some of the problems. The diagnosis of hypothy
roidism in newborn infants is inconsistently made by clinical observation. Harm has usually been done by the time the infant shows typical signs of
T4 deficiency. A biochemical method to detect T4
deficiency in blood soon after birth would be
desirable. Congenital deficiency of thyroid func tion is relatively common (about 1 per 7,000 live births), and it is treatable. There are many bene
fits to early treatment, and the cost of late
diagnosis is clearly high. Why should there not be
T4 screening in every community now that a
screening test has been developed?― The answer
is complex. Not all T4 deficiency is sporadic
cretinism. Heterogeneity of cause is apparent in
the existing field trials, and facilities for diagnosis
are essential. A rapid and complete patient re
trieval system is required if the test is to be
effective in permitting early diagnosis and treat
ment. A regional system of efficient sample de
livery is also essential. Deterioration of the
sample will generate false-positive tests, particu
larly when the specimen is allowed to warm; as a
result, unnecessary call-back requests can plague
the program and cause unwanted anxiety for phy
sician and patient. To ensure high specificity and
sensitivity, accurate and rapid diagnosis, and
appropriate treatment and counseling, a highly
structured, centralized T4 screening laboratory
with back-up facilities'7 and satellite centers
expert in endocrinology and genetics are re
quired.―' This type of screening would be an
expensive solo program, but, as an addition to an
established program already applying knowledge
to the patient with genetic disease,'4 screening for
T4 deficiency in newborn infants is a marginal
cost.
The example of thyroid hormone screening
illustrates why this statement cannot answer
questions about when, why, how, where, and
what of specific genetic screening; it also illus
trates the need for a standing committee of the
Academy to provide ongoing guidance.
Screening for Counseling for Reproductive
Options
Screening tests have been devised which detect
biochemical deviation or partial enzyme defi
ciency; these indicate a genetic carrier state in
persons who are otherwise healthy. This nonpro
band-oriented type of prospective screening is
useful when it is desirable to provide carriers with
information about reproductive risks and op
tions.
In recent years, there has been a proliferation
of screening tests for carriers of the Tay-Sachs and
sickle cell genes. Tay-Sachs carrier screening
programs have, in general, been good; however,
the sickle cell trait screening programs have ex
perienced many pitfalls and disappointments.
Despite the multitude of problems which have
arisen regarding this type of prospective screen ing, physicians cannot ignore their responsibilities or they will not be serving the best interests of their patients.
Prenatal screening for chromosomal aberra
tions, neural tube defects, and certain inborn
errors of metabolism in the fetus has also been
successfully carried out recently. The latter form of proband screening, as well as the screening for carriers of genetic disorders, must be closely tied to an array of technological resources. Although the laboratory tests may not be carried out in the physician's office, he is an important participant in the diagnosis and counseling. The physician's awareness of the issues in genetic screening will permit him to sponsor and participate in effective
programs within the community.
Screeningfor Research
Some of the ill-advised, proposed legislation for
screening illustrates the confusion that arises
when research is not clearly distinguished from
service. Research screening, performed according to all the pertinent legal and ethical standards, is important.4 For example, there is still a need to evaluate: (1) The carrier state in cystic fibrosis; (2)
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serum creatinine phosphokinase activity as an index of the carrier of Duchenne muscular dystro phy; (3) histidinemia and the role of dietary treatment; (4) the significance of a,-antitrypsin phenotypes in the pathogenesis of lung disease related to inhaled pollutants; and (5) the role of screening for autosomal dominant forms of hyper cholesterolemia and hypertriglyceridemia in ear ly life; and the role of dietary and drug treatment
in the prevention of coronary heart disease in
middle age.
Research on genetic diseases must not be aban
doned, as some suggest, simply because it is
fraught with uncomfortable issues. Campaigns
against “¿bad―habits in smoking and diet as a mode of disease prevention are no substitution for definitions of specific risks for specific persons.
The potential value of genetic screening is the
preventive measures available to those screening reveals to be at specific risk. Therefore, the Task Force reaffirms the validity of continuing
research on genetic screening in a society
concerned with the burdens of gene-influenced
disease in early and later life. Pediatricians will be participating in the development and implemen tation of this research.
A COURSEOF ACTION
The relationship of pediatricians to genetic
screening will depend on their personal experi
ence. There can be no omniscient guidelines for
the role of the pediatrician as an advocate for
children with genetic disease because knowledge
about genetic screening, counseling, and treat ment is constantly and rapidly evolving. The following recommendations deal with this chang
ing situation.
(1) A standing committee or subcommittee
should be established to: act as a coordinating body on issues concerning genetic diseases; inform pediatricians and their associates of new
developments in genetic screening, counseling,
and treatment of genetic disease; provide expert
advice to Fellows on problems arising in the
course of these developments; and formulate policy for consideration by the Executive Board of the Academy.
(2)Continuing
education
about
human
genet
ics is desirable for all Fellows. Academy chapters can foster postgraduate courses and programs.
The Academy's journal, PEDIATRICS, should
continue to keep pace with events in genetics.
(3) The pediatrician and his associatescan—as
individuals and as members of a hospital staff, scientific societies, and local committees—partici
pate in the development of public policy on
genetic issues.
(4)The
local
orregional
resources
fortesting,
retrieval, diagnosis, and follow-up should be iden tified and be available to the pediatrician.
(5) The Academy should determine the effi cacy of current screening practices for hyper
phenylalaninemia and should encourage changes
where indicated. The criteria and indications for
screening of galactosemia and thyroid hormone
deficiency should also be considered at the earliest opportunity.
(6)Theissues
ofinformed
consent
andthe
legal basis of genetic screening are complex and
deserve detailed consideration and review.
(7)Themechanism
forexecuting
public
re
sponsibility in screening will vary from one city,
state, or region to another. An instrument to
assure an orderly plan for screening, regardless of
location, might be a Commission for Screening
I Representation on the commission
should include the public, the medical profession,
educators, public health authorities, the legal
profession, and legislative asseml)ly.
These proposals are intended to provide a
“¿medicalhome― for the patient who has “¿comein
from the cold―—thepatient with genetic dis
ease.
AAP TASK FORCE ON GENETIC SCREENING
CHARLES R. SCRIVER, M.D., Chairman
ARNOLD S. ANDERSON, M.D.
LEWIS A. BARNES5, M.D.
BARTON CHILDS, M.D.
STANLEY N. GRAVEN, M.D.
MALCOLM A. HOLLIDAY, M.D.
NEIL A. HOLTZMAN, M.D.
RUDOLF P. HORMUTH PARVIN JUSTICE, Ph.D.
ROBERT B. KUGEL, M.D.
HARVEY L. LEVY, M.D.
JEAN L. MCMAHON, M.D.
ROBERT F. MURRAY, JR., M.D.
HENRY LOUIS NADLER, M.D.
A. FREDERICK NORTH, JR., M.D.
DONOUGH O'BRIEN, M.D.
JAMESB. SIDBURY,
JR., M.D.
ARTEMIS P. SIMopouLos, M.D.
REFERENCES
1. Committee on Fetus and Newborn: Screening of newborn infants for metabolic disease. Pediatrics 35:499, 1965.
2. Statement of an Ad Hoc Committee: Compulsory
disease. Pediatrics 39:623, 1967.
3. Committee on Children With Handicaps: Phenylketo nuria and the phen@lalaninemias of infancy. Pediat
rics 49:628, 1972.
4. Committee for the Study of Inl)orn Errors of Metabo lism: Genetic Screening: Programs, Principles and Research. Division of Medical Science, Assembly of Life Sciences, National Academy of Sciences, 1975.
5. \Vilson JMG, Juogner G: Principles and Practice of Screening for Disease. Public Health Paper No. 34. Geneva, WHO, 1968.
6. \Vhitby LG: Screening for disease: Definitions and criteria. Lancet 2:819, 1974.
7. Sackett DL, Holland \VW: Controversy in the detection of disease. Lancet 2:357, 1975.
8. Harris H, Hopkinson DA: Average heterozygosit@ per
locus in man: An estimate based on the incidence of
enzyme polymorphisms. Ann Hum Genet 36:9, 1972.
9. Trimble BK, Doughty JH: The amount of hereditary disease in human populations. Ann Hum Genet
38:199,1974.
10. Rosenstock IM, Childs B, Simopoulos AP: Genetic
Screening: A Study of the Knowledge and Attitudes of Physicians. National Academy of Sciences,
1975.
11. McKusick VA: Mendelian Inheritance in Man: Catalogs
of At@tosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes, ed 4. Baltimore, Johns Hopkins Press, 1975.
12. Stanburv JB, Wyngaarden JB, Fredrickson DS (eds): The
Metabolic Basis of Inherited Disease, ed 3. New York, McGraw-Hill, 1972.
13. Holmes LB: Inborn errors of morphogenesis: A review of localized hereditary malformations. N Engi J Med 291:763, 1974.
14. Clow CL, Fraser FC, Laberge C, Scriver CR: On the application of knowledge to the patient with genetic disease. Prog Med Genet 9: 159, 1973. 15. Genetic Disorders: Prevention, Treatment and Rehabil
itation. Geneva, WHO Techn Rep Series 497,
1972.
16. Dussault JH, Coulombe P. Laberge C, et al: Preliminary
report on a mass screening program for neonatal hypothyroidism. J Pediatr 86:670, 1975.
17. Bt,ist NRM, Murphey WF, Brandon GR, et al: Neonatal screening for hypothyroidism. Lancet 2:872, 1975.
General
1. Genetic screening, when carried out under controlled
conditions, is an appropriate form of medical care when the f ollowing criteriaare met:
a. There is evidence of substantial public benefit and acceptance, including acceptance by medical practitioners.
1). Its feasibility has been investigated and it has been
found that benefits outweigh costs; appropriate public edt, cation can be carried out; test methods are satisfactory;
laboratory facilities are available; and resources exist to deal with counseling, follow-up, and other consequences of testing.
C. An investigative pretest of the program has shown that costs are acceptable; education is effective; informed consent
is feasible; aims of the program with regard to the size of the
°From Committee for the Study of Inborn Errors of Metab
olism: Genetic Screening: Programs, Principles and Re search. Washington DC, National Academy of Sciences, Division of Medical Science, Assembly of Live Sciences, NRC, 1975.
sample to be screened, the age of the screenees, and the set ting in which the testing is to be done have been defined; laboratory facilities have been shown to fulfill requirements for quality control; techniques for communicating results are workable; qualified and effective counselors are available in
sufficient nu,nber; and adequate provision for effective ser
vices has been made.
d. The means are available to evaluate the effectiveness
and success of each step in the process.
2. Screeningfor phenylketonuria should be continued, and
additional studies directed to its improvement should be
supported. Although hindsight reveals that screening pro grams for phenylketonuria were instituted before the validi
ty and effectiveness of all aspects of treatment, including
appropriate dietary treatment, were thoroughly tested, current assessment reveals that case finding methods are
reasonably efficient, the means for moving from test to definitive management are adequate, and the appropriate
dietary treatment is harmless and effective. Experiences in
screening for phenylketonuria, both favorable and adverse,
constitute a valuable resource for guidance in the design and
operation of future programs. It is important that these
experiences be kept in mind and used where appropriate.
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a. In the absence of sufficient public knowledge of human
biology and genetics, the difficulties of arousing concern
over genetic diseasescannot be overcome, since even long
standing attempts to educate the public regarding traditional preventive health measures have had variable success.
b. In the short run, the educational aspects of genetic
screening must consist of special campaigns devoted to each
program. Sufficient knowledge of genetics, probability, and
medicine leading to appropriate perceptions of susceptibility
to and seriousness of genetic disease and of carrier status cannot be acquired as a consequence of incidental, acci dental or haphazard learning.
1 1. Screening authorities could improve the effectiveness of public education by studying and employing methods devised and tasted by professional students of health behavior and health education. The use of the mass commu
nication media and other techniques to change attitudes and behavior has not been particularly successful, partly because of failure to follow the appropriate precepts.
12. Continuing education courses for physicians should place emphasis on human genetics and particularly on the practical application of population genetics. In medical
schooLs the study ofgenetics should be included in courses of
epidemiology and preventive medicine, as well as in courses of medicine, pediatrics,and obstetrics.Such emphasis would
raise the level of genetic knowledge of physicians and would increase their orientation toward preventive medicine so
that they would be able to take an active role in genetic screening.
13. Schools of medicine, public health and hygiene, and
allied health sciences, as well as universities, should receive
support for programs to set standards and train persons to inform and counsel participants in screening programs. Such counselors are already in short supply.
Legal
14. Participation in a genetic screening program should
not be made mandatory by law, but should be left to the
discretion of the person tested or, if a minor, of the parents or legal guardian.
15. Identifying information obtained throng/i genetic
screening should not be made available to anyone other than the screenee except with the permission of the screenee or, in the case ofa minor, with the permission ofthe parents or legal
guardian.
16. Screening authorities should consult regularly with
lawyers and other persons knowledgeable in ethics to avoid social consequences of screening that may be damaging.
These take the form of invasion of privacy, breach of confidentiality, and other transgressions of civil rights, as well as psychological damage resulting from being “¿labeled―
or from misunderstandings about the significance of diseases and carrier states. The usefulness of or need for legislation to protect the participants in screening programs from such
dangers should be reviewed from time to time.
17. For states considering legislation mandating genetic screening, the Committee recommends examination of a law creating a Board on Hereditary Disorders such as that pro
Organizational
3. Responsibility for the organization and control of
genetic screening programs should be lodged in some agency
representative of both the public and the health professions.
This is necessary because of the public nature of genetic screening and its use of public facilities. It is also essential
because such screening carries some potential for invasion of privacy, “¿labeling,―breach of confidentiality, and psycho
logical abuse. The agency might take its authority from local or state government or from regional representation of a
federal program.
4. Public representation is necessary both in determining
that a new screening program is clearly in the public interest and also in the design and aperation of any such program. This is because genetic screening is likely to affect, for one
test or another and perhaps for many, every member of the population.
5. Screening agencies should consult regularly with local medical societies, stimulating their cooperation and participa
tion. This is important in order to give genetic screening the
maximum public and professional acceptance.
6. The aims of genetic screening should be clearly formu
kited and spelled out by the initiators of any screening program and should be publicly articulated with percLiion and candor. Thus there will be no possibility of a mistaken impression that the program is intended to be an instniment
of discrimination or is devoted to any “¿eugenic―cause. 7. Some degree of standardization of screening projects is
desirable. Demographic diversity, inequality of financial and
educational resources of the various states, and the individu ality of initiators of screening projects all lead to variation in the design, quality, and cost of screening programs. Stan dardization might be achieved by some national agency that could act as a clearinghouse for ideas and techniques, set standards, and exert quality control.
8. Regional programs with laboratories and other facilities
based on population numbers rather than political subdivi siori.s should be developed to make screening services of high
quality available equally to all. Such programs would avoid
the low priority currently given to genetic screening in states of low population density and low budget and would prevent the hardship otherwise suffered by the relatively few persons in such states to whom screening would be beneficial.
9. In the future, genetic screening should be regarded as
one among several preventive health measures and its devel
opmnent should take place in the context of the evolution of
health care in general. New projects should be dictated by
general principles governing genetic screening rather than by pressures originating in the special qualities of particular diseases.
Educational
10. It is essential to begin the study of human biology,
including genetics and probability, in primary school, contin uing with a more health-related curriculum in secondary
posed by the Council of State Governments' Committee on
Suggested State Legislation.
Research
18. Research in genetic screening should be governed by
the rigorous standards employed in laboratory investigation.
Special efforts should be made to evaluate all aspects, even of
routine procedures, and the social and ethical ramifications
of screening in the lives of the persons tested should be
investigated. So far, experience in genetic screening is insufficient to foresee and to forestall all possible untoward
side effects. Accordingly, it should be approached in an
experimental mood. At present, it is impressions that prevail,
rather than data collected and analyzed according to scien tific n,les.
19. It- is important that screening be used to study the
natural history of genetic disorders for which there is no
treatment at this time. Such research, in which the object of screening is to discover the full range of expression of the
disease, will further the development of new methods of treatment and can provide the control data needed to eval uate proposed treatments. Particular effort must be exerted to protect individuals identified by such screening against the psychological and social hazards that attend all screening programs, but whose impact may be enhanced by the lack of an effective treatment.
20. Research should be supported in adapting discoveries
of new genetic characteristics of screening purposes. This
research includes increasing the number and quality of tests, reducing their cost, building regional networks of laborato
ries and other facilities to broaden and improve service, and
designing simple, inexpensive, and effective treatments for newly discovered diseases. The acquisition of genetic knowl edge is proc@ethng exponentially, and much of it is germane to the aims of genetic screening.
21. Research to discover polymorphic alleles occurring in
high frequency should receive more substantial support. Certain common alleles have been shown to be associated with disease, and it is predictable that many more will a,lso be implicated.
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GENETICSCREENING
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1976;58;757
Pediatrics
AAP Task Force on Genetic Screening
The Pediatrician and Genetic Screening (Every Pediatrician a Geneticist)
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1976;58;757
Pediatrics
AAP Task Force on Genetic Screening
The Pediatrician and Genetic Screening (Every Pediatrician a Geneticist)
http://pediatrics.aappublications.org/content/58/5/757
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American Academy of Pediatrics, 345 Park Avenue, Itasca, Illinois, 60143. Copyright © 1976 by the been published continuously since 1948. Pediatrics is owned, published, and trademarked by the Pediatrics is the official journal of the American Academy of Pediatrics. A monthly publication, it has
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