Direct‐to‐Consumer Genetic Testing


Currently, a wide variety of genetic tests are offered direct‐to‐consumer (DTC), often without involving a healthcare professional. The potential benefits and harms of such tests have caused controversy; proponents stress the right to genetic information and consumer empowerment, while concerns include the questionable scientific quality and utility of tests and potential harmful health decisions taken in the absence of medical supervision and genetic counselling. Studies indicate that despite the relatively low public awareness regarding such services, consumers value genetic information and their motivation for buying such tests ranges from acquiring health‐related information to satisfying curiosity. Furthermore, healthcare professionals seem to be sceptical regarding this provision model and the utility of some tests. The ongoing revision of European legislation regarding, among others, genetic testing, and recent regulatory action taken against a genetic testing company in the US indicate that DTC genetic testing landscape may change significantly in the future.

Key Concepts:

  • Over the last decade, commercial companies have been offering health‐related and non‐health‐related tests direct‐to‐consumer (DTC), often without the involvement of healthcare providers.

  • Various aspects of DTC genetic testing have caused concerns among numerous healthcare professionals, policy makers and consumers, however, this provision model has also gained supporters.

  • Consumers’ motivations for using such services may vary widely.

  • Healthcare providers seem, to some degree, sceptical regarding DTC genetic testing.

  • The Food and Drug Administration recently adopted a stricter position regarding the regulation of DTC genetic testing, by requiring the company 23andMe to provide evidence of safety and efficacy of its personal genome service.

  • The ongoing revision of the EU Directive on in vitro diagnostic medical devices is expected to have, among others, an important impact on the European DTC genetic testing landscape.

Keywords: direct‐to‐consumer; genetic testing; medical supervision; genetic counselling; regulation; consumers' awareness; healthcare professionals' attitudes


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Further Reading

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How to Cite close
Kalokairinou, Louiza, Howard, Heidi C, and Borry, Pascal(Sep 2014) Direct‐to‐Consumer Genetic Testing. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0025181]