Direct-to-consumer genetic testing: A systematic review of european guidelines, recommendations, and position statements

Muhammad Rafiq, Carolina Ianuale, Walter Ricciardi, Stefania Boccia

Research output: Contribution to journalArticlepeer-review


Background: Personalized healthcare is expected to yield promising results, with a paradigm shift toward more personalization in the practice of medicine. This emerging field has wide-ranging implications for all the stakeholders. Commercial tests in the form of multiplex genetic profiles are currently being provided to consumers, without the physicians' consultation, through the Internet, referred to as direct-to-consumer genetic tests (DTC GT). Objectives: The objective was to review all the existing European guidelines on DTC GT, and its associated interventions, to list all the supposed benefits and harms, issues and concerns, and recommendations. Methods: We conducted a systematic review of position statements, policies, guidelines, and recommendations, produced by professional organizations or other relevant bodies for use of DTC GT in Europe. Results: Seventeen documents met the inclusion criteria, which were subjected to thematic analysis, and the texts were coded for statements related to use of DTC GT. Discussion and Conclusions: Professional societies and associations are currently more suggestive of potential disadvantages of DTC GT, recommending improved genetic literacy of both populations and health professionals, and implementation research on the genetic tests to integrate public health genomics into healthcare systems.

Original languageEnglish
Pages (from-to)535-547
Number of pages13
JournalGenetic Testing and Molecular Biomarkers
Issue number10
Publication statusPublished - Oct 1 2015

ASJC Scopus subject areas

  • Genetics(clinical)

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