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Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns

European Journal of Human Genetics volume 30, pages 1331–1343 (2022)Cite this article

Abstract

Direct-to-consumer genetic testing (DTC-GT) is becoming increasingly widespread. The aim of this research was to systematically review the literature published on healthcare professionals’ knowledge and views about DTC-GT, as an update to a 2012 systematic review. The secondary aim was to assess the knowledge and views of healthcare professionals on the ethical and legal issues pertaining to DTC-GT. A systematic search was performed to identify all relevant studies that have been conducted since 2012. Studies fulfilled the inclusion criteria if they were primary research papers conducted on healthcare professionals about their knowledge and views on health-related DTC-GT. PubMed, Embase, CINAHL, PsycINFO and Medline databases were searched from 2012 to May 2021. Title and abstract were screened, and full texts were reviewed by two study authors independently. New papers included were appraised and data were extracted on study characteristics, knowledge and views on DTC-GT, and ethical and legal issues. A narrative synthesis was conducted. Nineteen new papers were included, along with eight papers from the previous review. There was considerable variation in study participants with differing views, awareness levels, and levels of knowledge about DTC-GT. Genetic counsellors and clinical geneticists generally had more concerns, experience, and knowledge regarding DTC-GT. Ten ethical concerns and four legal concerns were identified. Healthcare professionals’ knowledge and experience of DTC-GT, including awareness of DTC-GT ethical and legal concerns, have only minimally improved since the previous review. This emphasises the need for further medical learning opportunities to improve the gaps in knowledge amongst healthcare professionals about DTC-GT.

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Fig. 1: PRISMA 2020 Flow Diagram.
Fig. 2: Summary of CASP appraisal for included studies.

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Acknowledgements

We would like to thank William Frank Randall for reviewing and making suggestions on an earlier report of this study.

Funding

No specific funding was provided to support this work. LTM is funded by the Health Research Board (grant no. ILP-HSR-2019-006).

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Authors and Affiliations

  1. Department of General Practice, RCSI University of Medicine and Health Sciences, Dublin 2, Ireland

    Michelle Fernandes Martins

  2. School of Pharmacy and Biomolecular Sciences, RCSI University of Medicine and Health Sciences, Dublin 2, Ireland

    Logan T. Murry & Frank Moriarty

  3. Heronswood Medical Centre, Cork Road, Cork, P43 VF30, Ireland

    Liesl Telford

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  1. Michelle Fernandes Martins
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  2. Logan T. Murry
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  4. Frank Moriarty
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Contributions

MM conceived the study, MM and FM designed the study, MM and LT screened records, MM extracted data and FM verified data, MM, LTM and FM analysed the data, MM drafted the paper and all authors provided critical revisions.

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Correspondence to Frank Moriarty.

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Martins, M.F., Murry, L.T., Telford, L. et al. Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns. Eur J Hum Genet 30, 1331–1343 (2022). https://doi.org/10.1038/s41431-022-01205-8

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