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Direct-to-consumer genomic testing from the perspective of the health professional: a systematic review of the literature

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Abstract

Since the 1990s, there has been a rapid expansion in the number and type of genetic tests available via health professionals; the last 10 years, however, have seen certain types of genetic and genomic tests available direct-to-consumer. The aim of this systematic review was to explore the topic of direct-to-consumer genetic testing from the health professional perspective. Search terms used to identify studies were ‘direct-to-consumer’, personal genom*, health* professional*, physician* ‘genomic, genetic’ in five bibliographic databases, together with citation searching. Eight quantitative papers were reviewed. Findings indicate a low level of awareness and experience of direct-to-consumer testing in health professionals. Inconsistent levels of knowledge and understanding were also found with two studies showing significant effects for gender and age. Concerns about clinical utility and lack of counselling were identified. Health professionals specialising in genetics were most likely to express concerns. There was also evidence of perceived increased workload for health professionals post-testing. However, some health professionals rated such tests clinically useful and cited benefits such as the increased opportunity for early screening. Despite limited awareness, knowledge and experience of actual cases, we concluded that the concerns and potential benefits expressed may be warranted. It may be useful to explore the attitudes and experiences of health professionals in more depth using a qualitative approach. Finally, it is essential that health professionals receive sufficient education and guidelines to equip them to help patients presenting with the results of these tests.

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Notes

  1. CA-125, cancer antigen-125; CT, computerised tomography; MRI, magnetic resonance imaging; PSA, prostate-specific antigen

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Acknowledgements

This study was undertaken as part of the work of Unit 2, Work Package 7 of the EuroGentest2 Coordination Action 2011 project. The project is funded by the European Commission, EU Contract no.: HEALTH-F4-2010-261469. We wish to thank Professor Helena Kaariainen for her helpful comments on the text.

The authors declare no conflict of interest.

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Authors and Affiliations

  1. Faculty of Health, Education and Society, School of Nursing and Midwifery, Plymouth University, Room 300, Hepworth House, Drake Circus, Plymouth, PL4 8AA, UK

    Lesley Goldsmith & Leigh Jackson

  2. Faculty of Health, Education and Society, School of Nursing and Midwifery, Plymouth University, Room 010, 8 Portland Villas, Drake Circus, Plymouth, PL4 8AA, UK

    Anita O’Connor

  3. Applied Health Genetics, Faculty of Health, Education and Society, School of Nursing and Midwifery, Plymouth University, Wellington Road, Taunton, TA1 5YD, UK

    Heather Skirton

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  1. Lesley Goldsmith
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Correspondence to Lesley Goldsmith.

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Goldsmith, L., Jackson, L., O’Connor, A. et al. Direct-to-consumer genomic testing from the perspective of the health professional: a systematic review of the literature. J Community Genet 4, 169–180 (2013). https://doi.org/10.1007/s12687-012-0135-8

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