Introduction to the Workshop
URLs Provided by Attendees
- Ethical, Legal, and Social Issues
The electronic form of this document may be cited in the following style:
Human Genome Program, U.S. Department of Energy, DOE Human Genome Program Contractor-Grantee Workshop IV, 1994.
Abstracts scanned from text submitted for November 1994 DOE Human Genome Program Contractor-Grantee Workshop. Inaccuracies have not been corrected.
Assessing Genetic Risks: Implications for Health and Social Policy
Lori B. Andrews, Jane E. Fullarton, Neil A. Holtzman, and Arno G. Motulsky
Fellow, American Bar Foundation, Chicago, IL. Study Director, Assessing Genetic Risks, Institute of Medicine, Washington, D.C. Professor of Pediatrics, Health Policy, and Management and Epidemiology, The Johns Hopkins University Hospital, Baltimore, MD. Chair, Committee on Assessing Genetic Risks; Professor of Medicine and Genetics, Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA.
This study of the scientific, ethical, legal, and social issues implicit in the field of genetic diagnosis, testing, and screening was supported jointly by the National Center for Human Genome Research at the National Institutes of Health and the Department of Energy's Health Effects and Life Sciences Research Office. Supplemental funding was also provided by the Markey Charitable Trust and the Institute of Medicine.
The committee took its starting point from the advice of the 1975 National Academy of Sciences study, Genetic Screening: Programs, Principles, and Research. The recommendations from that report, written almost 20 years ago, remain valid today. The committee reaffirmed the sentiments expressed in the 1975 report and updated and broadened their application for the 1990s and beyond.
The committee posed its recommendations in terms of general principles for the evaluation of expanded genetic diagnosis, testing, and screening. Although these recommendations reflect what is known today, and what experts foresee for the next few years, the committee had no crystal ball and, therefore, tried to develop criteria and to suggest processes for assessing when new tests are ready for pilot introduction and for widespread application in the population.
The committee's fundamental ethical principles include voluntariness, informed consent, and confidentiality, which in turn derive from respect for autonomy, equity, and privacy. Other committee principles described in this report include: the necessity of high-quality tests (of high specificity and sensitivity) performed with the highest level of proficiency and interpreted correctly; and conveying information to clients-both before and after testing in an easily understood manner through genetic education and counseling that is relevant to the needs and concerns of the client. These principles are the absolute foundation of genetic testing.
It is the view of the committee that, until benefits and risks have been defined, genetic testing and screening programs remain a form of human investigation. Therefore, routine use of tests should be preceded by pilot studies that demonstrate their safety and effectiveness. Standard safeguards should be applied in conducting these pilot studies, and independent review of the pilot studies should be conducted to determine whether the test should be offered clinically. Publicly supported population-based screening programs are justified only for disorders of significant severity, impact, frequency, and distribution, and when there is consensus that the available interventions warrant the expenditure of funds.
National Academy of Sciences (1975) Genetic Screening: Programs, Principles and Research.Committee for the Study of Inborn Errors of Metabolism. Washington, D.C.:NAS.