Direct-to-Consumer Genetic Testing: Value and Risk

Annu Rev Med. 2021 Jan 27;72:151-166. doi: 10.1146/annurev-med-070119-114727. Epub 2020 Jul 31.


Although the explosive growth of direct-to-consumer (DTC) genetic testing has moderated, a substantial number of patients are choosing to undergo genetic testing outside the purview of their regular healthcare providers. Further, many industry leaders have been expanding reports to cover many more genes, as well as partnering with employers and others to expand access. This review addresses continuing concerns about DTC genetic testing quality, psychosocial impact, integration with medical practice, effects on the healthcare system, and privacy, as well as emerging concerns about third-party interpretation services and non-health-related uses such as investigative genetic genealogy. It concludes with an examination of two possible futures for DTC genetic testing: merger with traditional modes of healthcare delivery or continuation as a parallel system for patient-driven generation of health-relevant information. Each possibility is associated with distinctive questions related to value and risk.

Keywords: ethics; genetics; policy; privacy; regulation.

Publication types

  • Review

MeSH terms

  • Direct-To-Consumer Screening and Testing / methods
  • Direct-To-Consumer Screening and Testing / trends*
  • Genetic Testing / standards*
  • Genetics / ethics*
  • Humans
  • Quality Improvement*