The FASEB Journal, Vol 6, 2806-2812, Copyright © 1992 by The Federation of American Societies for Experimental Biology

REVIEWS

The diffusion of new genetic tests for predicting disease

NA Holtzman
Johns Hopkins Medical Institutions, Baltimore, Maryland 21205.

This paper examines the pathways by which new genetic tests will become available to the public. In view of the scarcity of genetic specialists, the pathway is likely to involve primary care physicians. Other pathways entail state-mandated testing, community-based programs, or testing by laboratories without much involvement of primary care physicians. When testing does become available the "destination" will be either family-centered testing or population-oriented screening. The deterrent to screening will not be the inability to detect disease- causing mutations but the costs and attitudes of providers and the public. When tests are provided primarily to provide information about risks to future children, some people will oppose screening on religious or moral grounds. When there are no inexpensive treatments, some will fear that insurance companies and employers will use tests to deny them health care coverage. Some may not want to know their risks for disorders about which little can be done. For common, multifactorial disorders, genetic tests will have low predictive value. Because of these problems, the decision to be tested, regardless of the destination, requires that "testees" be fully informed and consent to testing. When acceptance rates are low, screening is less likely to be cost-effective; family-centered testing becomes the default destination.

This article has been cited by other articles:

				B. J. Henderson and B. T. Maguire Lay Representations of Genetic Disease, and Predictive Testing J Health Psychol, April 1, 1998; 3(2): 233 - 241. [Abstract]

				A. Clarke Population screening for genetic susceptibility to disease BMJ, July 1, 1995; 311(6996): 35 - 38. [Full Text]

				G. Geller and N. A. Holtzman A Qualitative Assessment of Primary Care Physicians' Perceptions about the Ethical and Social Implications of Offering Genetic Testing Qual Health Res, February 1, 1995; 5(1): 97 - 116. [Abstract] [PDF]