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

Practice standards in medical genetics provide an implicit guide to the eth ical, legal, and social implications (ELSI) of genetic tests. The common us e of nondirective counseling reflects the principle that many testing decis ions should be determined by personal values. Yet geneticists make test rec ommendations 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 Al zheimer disease (AD) risk. Taken together, these examples suggest that gene tic 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., presymptomati c testing for Huntington disease), the predominant concern is adequate nond irective counseling to ensure an informed autonomous decision. By contrast, the predominant concern for tests with high clinical validity/effective tr eatment (e.g., PKU) is assuring access to care for eligible persons. For te sts 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 potentia l harms of genetic labeling must be weighed. Where uncertainty exists conce rning both clinical validity and effectiveness of treatment, as in the case of BRCA1/2 mutation testing, the value of testing may vary according to di fferent testing contexts. This approach to test categorization allows a rap id determination of the predominant ELSI concerns for different kinds of ge netic tests and identifies the data most urgently needed for test evaluatio n. (C) 2001 Wiley-Liss, Inc.