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

Ann Intern Med. 2021 Apr;174(4):540-547. doi: 10.7326/M20-5713. Epub 2021 Jan 19.

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.

Publication types

  • Review

MeSH terms

  • Direct-To-Consumer Screening and Testing
  • Genetic Counseling
  • Genetic Predisposition to Disease
  • Genetic Testing*
  • Genetic Variation
  • Humans
  • Medical History Taking
  • Patient Selection*
  • Precision Medicine*
  • Predictive Value of Tests