• Ann. Intern. Med. · Apr 2021

    Review

    Cases in Precision Medicine: Genetic Testing to Predict Future Risk for Disease in a Healthy Patient.

    • Milo Rasouly Hila H 0000-0002-0770-2190 Columbia University Irving Medical Center, New York, New York (H.M.R., A.G.G.)., Vimla Aggarwal, Louise Bier, David B Goldstein, and Ali G Gharavi.
    • Columbia University Irving Medical Center, New York, New York (H.M.R., A.G.G.).
    • Ann. Intern. Med. 2021 Apr 1; 174 (4): 540-547.

    AbstractGenetic testing is performed more routinely in clinical practice, and direct-to-consumer tests are widely available. It has obvious appeal as a preventive health measure. Clinicians and their healthy patients increasingly inquire about genetic testing as a tool for predicting diseases, such as cancer, heart disease, or dementia. Despite demonstrated utility for diagnosis in the setting of many diseases, genetic testing still has many limitations as a predictive tool for healthy persons. This article uses a hypothetical case to review key considerations for predictive genetic testing.

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