BMJ 2001;322:1052-1056 ( 28 April )

Education and debate

The complexities of predictive genetic testing

James P Evans, director of cancer genetics services ^a, Cécile Skrzynia, genetic counsellor ^a, Wylie Burke, chair ^b. 

^a Department of Medicine, Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC 27599, USA, ^b Department of Medical History and Ethics, University of Washington, Seattle, WA 98195, USA

Correspondence to: J P Evans jpevans@med.unc.edu

The first 150 words of the full text of this article appear below.

Predictive genetic testing is the use of a genetic test in an asymptomatic person to predict future risk of disease. These tests represent a new and growing class of medical tests, differing in fundamental ways from conventional medical diagnostic tests. The hope underlying such testing is that early identification of individuals at risk of a specific condition will lead to reduced morbidity and mortality through targeted screening, surveillance, and prevention. Yet the clinical utility of predictive genetic testing for different diseases varies considerably. We explore here the factors that contribute to this variation and which will dictate the utility of any of these new tests now or in the future.

Table Removed (Available Only in the Full Text)

	Methods and definition of terms

The observations in this paper derive from our experience in clinical medicine, medical genetics, genetic counselling, and molecular biology and from participation in educational programmes for generalists on medical genetics. The definition of utility used here encompasses all aspects of . . . [Full text of this article]

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