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Direct-to-consumer genetic tests (DTC-GT) offer a variety of genetic health risk information. Understanding evidence of impacts is required for effective policy to protect consumers and healthcare services. We undertook a systematic review according to PRISMA guidelines, searching five literature databases for articles assessing analytic or clinical validity, or reporting consumer or healthcare professional experience with health risk information derived from DTC-GT, published between November 2014 and July 2020. We performed a thematic synthesis to identify descriptive and analytical themes. Forty-three papers met inclusion criteria. Many consumers submit raw DTC-GT data for third-party interpretation (TPI). DTC-GT sometimes report 'false positive' or incorrectly interpreted rare variants, or that such information can result from TPI. Consumers have high expectations of DTC-GT and TPI, and are broadly satisfied, although many do not act on results. A minority of consumers experience adverse psychological impacts. Healthcare consultations can be complex, and professionals have reservations about the validity and utility of DTC-GT-derived information. The contrast between consumer and health professional perceptions can result in mutual dissatisfaction with consultations. Health risk information from DTC-GT and TPI is broadly valued by consumers but presents complex challenges for healthcare services and some consumers.

Original publication




Conference paper

Publication Date



consumers, direct-to-consumer genetic test, healthcare professionals, systematic review