"This report sets out policy principles to guide the rational and responsible development and use of genetic tests," said committee chair Arno G. Motulsky, professor of medicine and genetics, University of Washington, Seattle. "Most genetic tests are not like any other blood tests. They should be ordered only after fully informing the patient about their impact on the individual and the family. Genetic tests that lead to effective prevention or treatment of disease have the greatest promise."
The committee identified concerns that must be addressed now -- such as quality control measures, including federal oversight, for testing laboratories and better genetics training for medical practitioners. It recommended voluntary screening; urged couples in high-risk populations to consider carrier screening; and advised caution in using and interpreting pre-symptomatic or predictive tests.
Pressure, especially from those with commercial interests, is being exerted to broaden screening programs and increase the number of genetic tests available to the public, noted the committee. However, before effective treatments and safeguards are in place, the information produced could easily be misused or misinterpreted. Among the results could be loss of insurance or employment.
The report looks at issues that will arise with greater frequency as the knowledge gained from the Human Genome Project leads to an explosion of new genetic testing possibilities. About three in every 100 children are born with a severe disorder presumed to be genetic or partially genetic in origin. Genes, often in concert with environmental factors, are being linked to the cause of many common adult diseases -- such as coronary artery disease, hypertension, various cancers, diabetes, and Alzheimer's disease.
Tests to determine predisposition to a variety of conditions are under study and some are beginning to be applied. "We are learning more and more that genetic susceptibility is part of many diseases," said Motulsky.
Four important ethical and legal principles -- autonomy, confidentiality, privacy, and equity -- should anchor efforts to set policies that will determine the level of control people have over genetic testing and information uses. The committee added, however, that individual rights may need to give way when serious harm to others could occur.
After considering a variety of potential social and health-related impacts, the committee recommended that all screening, including for newborns, be voluntary. Citing results of the voluntary newborn screening programs of Maryland and the District of Columbia, the committee said these programs can achieve compliance rates equal to or better than those of mandatory programs.
State health departments could eventually mandate the offering of tests for diagnosing treatable conditions in newborns, the committee said. But careful pilot studies for conditions diagnosable at birth need to be done first.
Although the committee said it would prefer that all screening be voluntary, it noted that if a state requires newborn screening for a particular condition, the state should do so only if there is strong evidence that a newborn would benefit from effective treatment at the earliest possible age.
Newborn screening is the most common type of genetic screening today. More than 4 million newborns are tested annually so that effective treatment can be started in a few hundred. All states either offer or mandate testing for phenylketonuria (PKU) and congenital hypothyroidism, two metabolic disorders that, if untreated, cause mental retardation.
Genetics also can predict if certain diseases might develop later in life. For single-gene diseases, population screening "should only be considered for treatable or preventable conditions of relatively high frequency." Children should be tested only for disorders where effective treatments or preventive measures can be applied early in life.
COUNSELING CHALLENGES Obtaining informed consent -- a process of education, not merely the signing of a form -- would ensure that genetic testing is voluntary, the committee said. In a personal statement in the report, the committee chair offers views that differ in some respects from the majority of the committee.
Motulsky cautioned that the recommendations regarding extensive counseling in newborn screening "represent somewhat ideal scenarios that may require some modification in practice." He noted that for every affected infant, thousands of infants will be unaffected. Pretest education and counseling in such situations may not be as comprehensive as in scenarios where a greater probability exists for a child to be affected. He worries that a few parents might not give consent, thereby potentially endangering the child's health. Some committee members agreed that mandatory screening for PKU and hypothyroidism would be a simpler solution.
The committee also discouraged the use of screening to identify newborns who carry genes that might cause disease in subsequent offspring, or to help parents determine their own carrier status. The committee's justification derives from the principle that a person should not be used as a means for the benefit of others. But Motulsky noted in his statement that the mother should be notified and counseled about reproductive implications when -- as often happens -- the medically innocuous sickle cell trait is detected during screening in newborns for sickle cell anemia. The entire committee urged that members of high-risk populations be offered carrier screening before pregnancy.
Prenatal testing can pose the most difficult issues. "The ability to diagnose genetic disorders [of the fetus] far exceeds any ability to treat or cure them," noted the committee. Pregnant women must be fully informed about risks and benefits of testing procedures, the nature and variability of the disorders they would disclose, and options available -- including abortion -- if test results are positive. When offered testing, a woman should receive counseling before and after.
Counseling should be "non-directive" out of respect for the patient's autonomy in decision-making, the committee said. Relevant medical advice, however, is recommended for treatable or preventable conditions. "Decisions about whether to reproduce or to abort an affected fetus are individual choices that should be left to each couple." These personal decisions are not to be outweighed by public health goals to reduce the societal burden of disease. The committee also strongly opposed using prenatal diagnosis and abortion to choose the desired sex of the fetus.
NEW TEST EVALUATION, QUALITY CONTROL, AND EDUCATION
The committee made several recommendations to ensure quality control of genetic laboratory tests and called for "the highest level of federal oversight." While legislative authority exists for the Food and Drug Administration (FDA) to evaluate new genetic tests, and for the Health Care Financing Administration to oversee the quality of laboratories performing genetic tests, such authority is "not being applied to genetic testing at all." FDA can regulate genetic testing kits and associated components, but they are rarely being submitted to FDA for approval. Genetic tests warrant a standard with a close-to-zero margin of error.
The committee called for bolstered genetics education for the general public and health practitioners. Health care providers will often order or administer genetic tests and counsel patients. Government officials and the public will be called on to formulate public policy and to make other difficult personal and social decisions. The committee also recommended expanded genetics education in medical school curricula. And it asked the U.S. Department of Energy and the National Institutes of Health to expand their investments in public education related to the scientific, social, and personal implications of the Human Genome Project.
PROTECTING AGAINST DISCRIMINATION
The committee urged the consideration of legislation to protect against discrimination in health insurance and employment. It called for laws to "prevent medical risks, including genetic risks, from being taken into account in decisions on whether to issue or how to price health care insurance." It also asked for measures to forbid employers "to collect genetic information on prospective or current employees unless it is clearly job related."
The report recommended the establishment of a new body for policy oversight. A broadly representative national advisory committee and a working group on genetic testing could set standards for professional practices and determine when new genetic tests are ready for wide-scale use.
The study was funded by the National Institutes of Health, the U.S. Department of Energy, the Markey Charitable Trust, and the Institute of Medicine.
The Institute of Medicine is a private, non-profit organization that provides health policy advice under a congressional charter granted to the National Academy of Sciences. A committee roster is below.
The committee's report, ASSESSING GENETIC RISKS: IMPLICATIONS FOR HEALTH AND SOCIAL POLICY, is available from the National Academy Press in the Bookstore section of NAS Online.
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INSTITUTE OF MEDICINE
DIVISION OF HEALTH SCIENCES POLICY
COMMITTEE ON ASSESSING GENETIC RISKS
ARNO G. MOTULSKY, M.D., SC.D. (1,2) (chair)
Professor of Medicine and Genetics
Department of Medicine
University of Washington
LORI B. ANDREWS, J.D.
American Bar Foundation, and
Visiting Professor of Law
Illinois Institute of Technology
BARBARA BOWLES BIESECKER, M.S.
Genetic Counselor, Department of Internal Medicine
University of Michigan Medical Center
JAMES F. CHILDRESS, PH.D.
Chair, Department of Religious Studies, and
Edwin B. Kyle Professor of Religious Studies
University of Virginia
BARTON CHILDS, M.D. (1)
Professor of Pediatrics, Emeritus
The Johns Hopkins University School of Medicine
P. MICHAEL CONNEALLY, PH.D.
Distinguished Professor of Medical and Molecular Genetics and Neurology
Indiana University School of Medicine
HELEN DONIS-KELLER, PH.D.
Director, Division of Molecular Genetics, and
Professor of Surgery and Genetics, Department of Surgery
Washington University School of Medicine
NORMAN C. FOST, M.P.H., M.D.
Professor of Pediatrics, Department of Pediatrics
University of Wisconsin School of Medicine
NEIL A. HOLTZMAN, M.P.H., M.D.
Professor of Pediatrics, Health Policy, and Management and Epidemiology
The Johns Hopkins University Hospital
MICHAEL M. KABACK, M.D.
Professor of Pediatrics and Reproductive Medicine
University of California
MARY-CLAIRE KING, PH.D.
Professor of Genetics and Epidemiology
Department of Molecular and Cell Biology
University of California School of Public Health
PATRICIA A. KING, J.D. (1)
Professor of Law
Georgetown University Law Center
ALEXANDER LEAF, M.D. (1,2)
Jackson Professor of Clinical Medicine, Emeritus
Harvard University Medical School, and
Veterans Affairs Medical Center
Brockton/West Roxbury, Mass.
PETER LIBASSI, LL.B.
Dean, Barney School of Business and Public Administration
University of Hartford
West Hartford, Conn.
ROBERT F. MURRAY JR., M.D. (1)
Professor of Pediatrics, Medicine, Oncology, and Genetics
Howard University College of Medicine
MARK A. ROTHSTEIN, J.D.
Law Foundation Professor of Law, and
Director, Health Law and Policy Institute
University of Houston Law Center
CLAUDIA T. WEICKER
NANCY SABIN WEXLER, PH.D.
Professor of Clinical Neuropsychology
Departments of Neurology and Psychiatry
College of Physicians and Surgeons
New York City
JANE EVALYN FULLARTON
Director, Division of Health Sciences Policy
RUTH ELLEN BULGER
Director (until July 1993), Division of Health Sciences Policy
(1) Member, Institute of Medicine
(2) Member, National Academy of Sciences
Document submitted by Hans S. Goerl
The Genethics Center