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Genetic testing for disease prevention: oversold? 

Genetic testing for disease prevention: oversold?
Chapter:
Genetic testing for disease prevention: oversold?
Author(s):

J. Frank

, R. Jepson

, and A. J. Williams

DOI:
10.1093/med/9780198725862.003.0009
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date: 05 April 2020

This chapter builds on the earlier discussions of causation, including the seminal ideas of Geoffrey Rose (Chapter 5), risk factor detection for chronic disease (Chapter 7), and cancer screening (Chapter 8). In this chapter, the authors look critically at the most high-profile approach to prevention to arise in the last few decades—genetic testing for future disease risk. The two-by-two table of predictive screening results against actual future disease occurrence is introduced as a tool that can be used to demonstrate the potential for net harm, over benefits, from using disease-prediction tests with only modestly strong associations with future disease. It is shown that, for most of the common diseases of later life (which are co-determined by many genes and environmental exposures acting together, over our life-course), current genetic tests are not strongly predictive enough of those diseases’ future occurrence to be generally useful in entire populations.

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