instituted), to allow appropriate education, informed consent, and genetic counseling. This will be a critical issue for the future of genetic testing and genetic counseling. Tests should not be grouped together just because it is technically feasible or economically advantageous; for example, a test for PKU that is treatable should not grouped together with a test for Huntington disease that is not treatable. Tests should be grouped with other tests that have the same implications and issues for genetic education and counseling so that people can make informed decisions about genetic testing; tests should not be grouped according to marketplace exigencies. Research will be required to develop and evaluate innovative methods for the grouping of genetic tests in a way that will make it possible for multiplex testing to embody the committee's basic principles on informed consent and the need for genetics education and counseling (see Chapters 2 and 8).



It is important to distinguish between the terms ''positive result" and "negative result" in both lay and medical terminology. While a physician would describe test results that reveal the presence of a fetal abnormality as "positive" in terms of detecting the condition for which the test was defined, a lay person would be most likely to describe this result as "negative" in social, emotional, or psychological terms (see discussion of language of genetics, Box 4-1).


These guidelines are available from the Alliance of Genetic Support Groups, 35 Wisconsin Circle, Suite 440, Chevy Chase, MD 20815, 301-652-5553.


Alliance of Genetic Support Groups. 1993. Informed Consent: Participation in Genetic Research Studies. Chevy Chase, Md.

Andrews, L. 1987. Medical Genetics: A Legal Frontier. Chicago: American Bar Foundation.

Angastiniotis, M. 1991. Development of Genetics Services from Disease Oriented National Genetics Programs (Cypress Thalassemia Centre, Archbishop Makarios III Hospital, Nicosia, Cyprus). Presentation at the 8th International Congress of Human Genetics , Washington, D.C., October.

Asch, A. 1989. Reproductive technology and disability. In Cohen, S., and Taub, N. (eds.) Reproductive Laws for the 1990s. Clifton, N.J.: Humana Press.

Beeson, D., and Golbus, M. 1985. Decision making: Whether or not to have prenatal diagnosis and abortion for X-linked conditions. American Journal of Medical Genetics 20:107-114.

Biesecker. B. 1992a (published in 1994). Genetic counseling: Settings, providers and goals, current and future. In Fullarton, J. (ed.) Proceedings of the Committee on Assessing Genetic Risks. Washington, D.C.: National Academy Press.

Biesecker, B. 1992b (published in 1994). Issues in genetic counseling for prenatal diagnosis. In Fullarton, J. (ed.) Proceedings of the Committee on Assessing Genetic Risks. Washington, D.C.: National Academy Press.

Billings, P. 1991. Causes of discrimination in health insurance. Genewatch 7(6):2-3.

Billings, P., et al. 1992. Genetic discrimination in insurance. American Journal of Human Genetics 50:476-482.

Brock, D. 1984. Cystic fibrosis. In Wald, N. (ed.) Antenatal and Neonatal Screening. New York: Oxford University Press.

Burke, W., et al. 1993. Clinical implications of genetic susceptibility testing: Nondirective counseling

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