Get access

Categorizing genetic tests to identify their ethical, legal, and social implications

Authors

  • Wylie Burke,

    Corresponding author
    • Department of Medical History and Ethics, University of Washington, Box 357120, 1959 NE Pacific Ave., Seattle, WA 98195.
    Search for more papers by this author
    • Dr. Burke is Professor and Chair of the Department of Medical History and Ethics and Adjunct Professor of Medicine, University of Washington, Seattle, WA. She received a PhD in Genetics and an MD from the University of Washington. She currently serves on the National Advisory Council for Human Genome Research and the Secretary's Advisory Committee on Genetic Testing. Her research addresses the clinical and societal implications of genetic information.

  • Linda E. Pinsky,

    Search for more papers by this author
    • Dr. Pinsky is an Associate Professor in the Department of Medicine (Division of General Internal Medicine), University of Washington, Seattle, WA. She received her MD from the University of Washington. She is a medical educator and recipient of the national Innovations in Education award from the Society of General Internal Medicine. Her research addresses the process of medical education and has recently focused on genetics education for primary care providers.

  • Nancy A. Press

    Search for more papers by this author
    • Dr. Press is an Associate Professor in the Department of Preventive Medicine and Public Health, Oregon Health Sciences University, Portland, OR. She received her PhD in Anthropology from Duke University. She has served on the NIH-DOE Task Force on Genetic Testing and the ELSI Research Planning and Evaluation Group. Her research addresses the personal and societal implications of genetic information.


Abstract

Practice standards in medical genetics provide an implicit guide to the ethical, legal, and social implications (ELSI) of genetic tests. The common use of nondirective counseling reflects the principle that many testing decisions should be determined by personal values. Yet geneticists make test recommendations in some circumstances, e.g., RET mutation testing for MEN2 and newborn screening for phenylketonuria (PKU). Conversely, many geneticists recommend against testing for Apolipoprotein E (ApoE) alleles to predict Alzheimer disease (AD) risk. Taken together, these examples suggest that genetic tests can be categorized by a joint consideration of clinical validity and availability of effective treatment for persons who test positive. For genetic tests with high clinical validity/no treatment (e.g., presymptomatic testing for Huntington disease), the predominant concern is adequate nondirective counseling to ensure an informed, autonomous decision. By contrast, the predominant concern for tests with high clinical validity/effective treatment (e.g., PKU) is assuring access to care for eligible persons. For tests with limited clinical validity/no treatment (e.g., ApoE), recommending against test use can be justified on the principle of avoiding harm. For a fourth category, tests with limited clinical validity/effective treatment (e.g., HFE mutation testing for hereditary hemochromatosis), net benefit is the issue: the balance between potential benefits of treatment and potential harms of genetic labeling must be weighed. Where uncertainty exists concerning both clinical validity and effectiveness of treatment, as in the case of BRCA1/2 mutation testing, the value of testing may vary according to different testing contexts. This approach to test categorization allows a rapid determination of the predominant ELSI concerns for different kinds of genetic tests and identifies the data most urgently needed for test evaluation. © 2001 Wiley-Liss, Inc.

Ancillary