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Updated: Nov 21, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Cases in Precision Medicine: Genetic Testing to Predict Future Risk for Disease in a Healthy Patient
Hila Milo Rasouly1, Vimla Aggarwal2, Louise Bier2
1Columbia University Irving Medical Center, New York, New York (H.M.R., A.G.G.).
Abstract:
Genetic 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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