Cases in Precision Medicine: When Patients Present With Direct-to-Consumer Genetic Test Results

Ann Intern Med. 2019 May 7;170(9):643-650. doi: 10.7326/M18-2356. Epub 2019 Apr 30.

Abstract

A couple is planning to start a family, and they decide to order a 23andMe test after reading about the company's carrier screening test and the new BRCA1/BRCA2 test. They bring the results to their internist for advice on how to proceed. Given the rise in public interest in human genetics and precision medicine, direct-to-consumer genetic testing is becoming increasingly popular, and clinicians should expect patients to present the results of these tests more frequently. This article uses a case scenario to provide information about what the results of these tests mean, and what they do not mean.

MeSH terms

  • Adult
  • Direct-To-Consumer Screening and Testing*
  • Female
  • Genetic Carrier Screening
  • Genetic Counseling
  • Genetic Privacy
  • Genetic Testing*
  • Humans
  • Male
  • Physician-Patient Relations
  • Precision Medicine
  • Preconception Care