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The sense and nonsense of direct-to-consumer genetic testing for cardiovascular disease
Authors:A. C. J. W. Janssens  A. A. M. Wilde  I. M. van Langen
Affiliation:1Department of Epidemiology, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, the Netherlands ;2Department of Cardiology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands ;3Department of Clinical Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
Abstract:Expectations are high that increasing knowledge of the genetic basis of cardiovascular disease will eventually lead to personalised medicine—to preventive and therapeutic interventions that are targeted to at-risk individuals on the basis of their genetic profiles. Most cardiovascular diseases are caused by a complex interplay of many genetic variants interacting with many non-genetic risk factors such as diet, exercise, smoking and alcohol consumption. Since several years, genetic susceptibility testing for cardiovascular diseases is being offered via the internet directly to consumers. We discuss five reasons why these tests are not useful, namely: (1) the predictive ability is still limited; (2) the risk models used by the companies are based on assumptions that have not been verified; (3) the predicted risks keep changing when new variants are discovered and added to the test; (4) the tests do not consider non-genetic factors in the prediction of cardiovascular disease risk; and (5) the test results will not change recommendations of preventive interventions. Predictive genetic testing for multifactorial forms of cardiovascular disease clearly lacks benefits for the public. Prevention of disease should therefore remain focused on family history and on non-genetic risk factors as diet and physical activity that can have the strongest impact on disease risk, regardless of genetic susceptibility.
Keywords:Genetic testing   Cardiovascular disease   Direct-to-consumer   Predictive ability   Risk assessment
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