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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

References

  • Baars MJH, Henneman L, ten Kate LP (2005) Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists, and pediatricians: a global problem. Genet Med 7(9):605–610

    Article  PubMed  Google Scholar 

  • Bloss CS, Schork NJ, Topol EJ (2011) Effect of direct-to-consumer genomewide profiling to assess disease risk. N Engl J Med 364(6):524–534

    Article  PubMed  CAS  Google Scholar 

  • Borry P (2010) Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes. Eur J Hum Genet 18(12):1271–1273

    Article  Google Scholar 

  • Borry P, Henneman L, Lakeman P, ten Kate LP, Cornel MC, Howard HC (2011) Preconceptional genetic carrier testing and the commercial offer directly-to-consumers. Hum Reprod 26(5):972–977. doi:10.1093/humrep/der042

    Article  PubMed  Google Scholar 

  • Braun V, Clarke V (2006) Using thematic analysis in psychology. Qualitative Res in Psychol 3:77–101

    Article  Google Scholar 

  • Brett GR, Metcalfe SA, Amor DJ, Halliday JL (2012) An exploration of genetic health professionals’ experience with direct-to-consumer genetic testing in their clinical practice. European Journal of Human Genetics advance on line publication. doi:10.1038/ehjg.2012.13

  • Burke S, Kirk M (2006) Genetics education in the nursing profession: literature review. J Adv Nurs 54(2):228–237. doi:10.1111/j.1365-2648.2006.03805.x

    Article  PubMed  Google Scholar 

  • Burton H (2011) Genetics and mainstream medicine. Public Health Genetics Foundation. ISBN 978-1-907198-07-6

  • Caulfield T, Ries NM, Ray PN, Shuman C, Wilson B (2010) Direct-to-consumer genetic testing: good, bad or benign? Clin Genet 77:101–105

    Article  PubMed  CAS  Google Scholar 

  • Centre for Reviews and Dissemination (2008) Systematic reviews. CRD, University of York, York

  • Einsiedel EF, Geransar R (2009) Framing genetic risk: trust and credibility markers in online direct-to-consumer advertising for genetic testing. New Genet Soc 28(4):339–362

    Article  Google Scholar 

  • Giovanni MA, Fickie MR, Lehmann LS, Green RC, Meckley LM, Veenstra D, Murray MF (2010) Health-care referrals from direct-to-consumer genetic testing. Genet Test Mol Biomarkers 14(6):817–819

    Article  PubMed  Google Scholar 

  • Gollust SE, Gordon ES, Zayac C, Griffin G, Christman MF, Pyeritz RE, Wawak L, Bernhardt B (2011) Motivations and perceptions of early adopters of personalized genomics: perspectives from research participants. Public Health Genomics. doi:10.1159/000327296

  • Gray SW, Hornik RC, Schwartz JS, Armstrong K (2011) The impact of risk information exposure on women’s beliefs about direct-to-consumer genetic testing for BRCA mutations. Clin Genet 81(1):29–37. doi:10.1111/j.1399-0004.2011.01797.x

    Article  PubMed  Google Scholar 

  • Guttmacher AE, Porteous ME, McInerney JD (2007) Educating health-care professionals about genetics and genomics. Nat Rev Genet 8(2):151–157

    Article  PubMed  CAS  Google Scholar 

  • Haga S, Carrig MM, O’Daniel JM, Orlando LA, Killeya-Jones LA, Ginsburg GS, Cho A (2011) Genomic risk profiling: attitudes and use in personal and clinical care of primary care physicians who offer risk profiling. Journal of General Internal Medicine 26(8):834–840

    Article  PubMed  Google Scholar 

  • Hauskeller C (2011) Direct to consumer genetic testing. BMJ 342:d2317

    Article  PubMed  Google Scholar 

  • Heald B, Edelman E, Eng C (2012) Prospective comparison of family medical history with personal genome screening for risk assessment of common cancers. Eur J Hum Genet 20(5):547–551

    Article  PubMed  CAS  Google Scholar 

  • Hennen L, Sauter A, Van Den Cruyce E (2010) Direct to consumer genetic testing: insights from an Internet scan. New Genet Soc 29(2):167–186

    Article  Google Scholar 

  • Hock KT, Christensen KD, Yashar BM, Roberts JS, Gollust SE, Uhlmann WR (2011) Direct-to-consumer genetic testing: an assessment of genetic counselors’ knowledge and beliefs. Genet Med 13(4):325–332

    Article  PubMed  Google Scholar 

  • Houwink E, van Luijk S, Henneman L, van der Vleuten C, Jan Dinant G, Cornel M (2011) Genetic educational needs and the role of genetics in primary care: a focus group study with multiple perspectives. BMC Fam Pract 12(1):5

    Article  PubMed  Google Scholar 

  • Howard HC, Borry P (2008) Direct-to-consumer genetic testing: more questions than benefits? Personalized Medicine 5(4):317–320

    Article  Google Scholar 

  • Hunter DJ, Khoury MJ, Drazen JM (2008) Letting the genome out of the bottle—will we get our wish? N Engl J Med 358(2):105–107

    Article  PubMed  CAS  Google Scholar 

  • Imai K, Kricka LJ, Fortina P (2011) Concordance study of 3 direct-to-consumer genetic-testing services. Clin Chem 57(3):518–521. doi:10.1373/clinchem.2010.158220

    Article  PubMed  CAS  Google Scholar 

  • Khoury MJ, McBride CM, Schully SD, Ioannidis JPA, Feero WG, Janssens ACJW, Gwinn M, Simons-Morton DG, Bernhardt JM, Cargill M, Chanock SJ, Church GM, Coates RJ, Collins FS, Croyle RT, Davis BR, Downing GJ, DuRoss A, Friedman S, Gail MH, Ginsburg GS, Green RC, Greene MH, Greenland P, Gulcher JR, Hsu A, Hudson KL, Kardia SLR, Kimmel PL, Lauer MS, Miller AM, Offit K, Ransohoff DF, Roberts JS, Rasooly RS, Stefansson K, Terry SF, Teutsch SM, Trepanier A, Wanke KL, Witte JS, Xu J (2009) The Scientific Foundation for Personal Genomics: Recommendations from a National Institutes of Health-Centers for Disease Control and Prevention Multidisciplinary Workshop. Genet Med 11 (8):559–567 510.1097/GIM.1090b1013e3181b1013a1096c

    Google Scholar 

  • Kmet LM, Lee RC, Cook LS (2004) Standard quality assessment criteria for evaluating primary research papers from a variety of fields. Alberta Heritage Foundation for Medical Research. http://www.ihe.ca/documents/HTA-FR13.pdf. Accessed 8 September 2008

  • Kolor K, Liu T, St. Pierre J, Khoury MJ (2009) Health care provider and consumer awareness, perceptions, and use of direct-to-consumer personal genomic tests, United States, 2008. Genet Med 11(8):595

    Article  PubMed  Google Scholar 

  • Kroese M (2012) The challenges posed by direct-to-consumer genetic tests. Public Health Genomics Foundation. http://www.phgfoundation.org/news/12372. Accessed 4 September 2012

  • Lachance CR, Herby LAH, ford BM, Allen VC, Kaphingst KA (2010) Informational content, literacy demands, and usability of websites offering health-related genetic tests directly to consumers. Genet Med 12(5):304–312

    Article  PubMed  Google Scholar 

  • Li C (2011) Personalized medicine—the promised land: are we there yet? Clin Genet 79:403–412

    Article  PubMed  CAS  Google Scholar 

  • Loud JT (2010) Direct-to-consumer genetic and genomic testing: preparing nurse practitioners for genomic healthcare. The Journal for Nurse Practitioners 6(8):585–594

    Article  PubMed  Google Scholar 

  • Mai Y, Koromila T, Sagia A, Cooper DN, Vlachopoulos G, Lagoumintzis G, Kollia P, Poulas K, Stathakopoulos V, Patrinos GP (2011) A critical view of the general public’s awareness and physicians’ opinion of the trends and potential pitfalls of genetic testing in Greece. Personalized Medicine 8(5):551–561. doi:10.2217/pme.11.48

    Article  Google Scholar 

  • McGuire AL, Burke W (2008) An unwelcome side effect of direct-to-consumer personal genome testing. Raiding the medical commons Journal of the American Medical Association 300(22):2669–2671

    Article  CAS  Google Scholar 

  • McGuire AL, Diaz CM, Wang T, Hilsenbeck SG (2009) Social networkers’ attitudes toward direct-to-consumer personal genome testing. Am J Bioeth 9(6–7):3–10

    PubMed  Google Scholar 

  • Morse JM, Field PA (1996) Nursing research. The application of qualitative approaches, 2nd edn. Chapman and Hall, London

    Google Scholar 

  • Mouchawar J, Hensley-Alford S, Laurion S, Ellis J, Kulchak-Rahm A, Finucane M, Meenan R, Axell L, Pollack R, Ritzwoller DP (2005) Impact of direct-to-consumer advertising for hereditary breast cancer testing on genetic services at a managed care organization: a naturally-occurring experiment. Genet Med 7(3):191–197

    Article  PubMed  Google Scholar 

  • Myers MF, Chang M-H, Jorgensen C, Whitworth W, Kassim S, Litch JA, Armstrong L, Bernhardt B, Faucett WA, Irwin D, Mouchawar J, Bradley LA (2006) Genetic testing for susceptibility to breast and ovarian cancer: evaluating the impact of a direct-to-consumer marketing campaign on physicians’ knowledge and practices. Genet Med 8(6):361–370

    Article  PubMed  Google Scholar 

  • National Human Genome Research Institute (2011) A catalog of published genome-wide association studies. National Human Genome Research Institute. http://www.genome.gov/26525384. Accessed 8 September 2011

  • Ohata T, Tsuchiya A, Watanabe M, Sumida T, Takada F (2009) Physicians’ opinion for 'new' genetic testing in Japan. J Hum Genet 54:203–208

    Article  PubMed  Google Scholar 

  • Perez GK, Cruess DG, Cruess S, Brewer M, Stroop J, Schwartz R, Greenstein R (2011) Attitudes toward direct-to-consumer advertisements and online genetic testing among high-risk women participating in a hereditary cancer clinic. J Heal Commun 0:1–22

    Google Scholar 

  • Polit DF, Beck CT (2006) Essentials of nursing research, 6th edn. Lippincott Williams and Wilkins, Philadelphia

    Google Scholar 

  • Powell K, Christianson C, Cogswell W, Dave G, Verma A, Eubanks S, Henrich V (2012) Educational needs of primary care physicians regarding direct-to-consumer genetic testing. J Genet Couns 21(3):469–478. doi:10.1007/s10897-011-9471-9

    Article  PubMed  Google Scholar 

  • Powell KP, Cogswell WA, Christianson CA, Dave G, Verma A, Eubanks S, Henrich VC (2011) Primary Care Physicians’ Awareness, Experience and Opinions of Direct-to-Consumer Genetic Testing. J Genet Couns 21:113-26

    Google Scholar 

  • Reid RJ, McBride CM, Alford SH, Price C, Baxevanis AD, Brody LC, Larson EB (2012) Association between health-service use and multiplex genetic testing. Genet Med 158A:2463-72

    Google Scholar 

  • Tamir S (2010) Direct-to-consumer genetic testing: ethical–legal perspectives and practical considerations. Medical Law Review 18:213–238

    Article  PubMed  Google Scholar 

  • Thrush SA, McCaffrey R (2010) Direct-to-consumer genetic testing: what the nurse practitioner should know. The Journal for Nurse Practitioners 4:269–273

    Article  Google Scholar 

  • Vashlishan Murray AB, Carson MJ, Morris CA, Beckwick J (2010) Illusions of scientific legitimacy: misrepresented science in the direct-to-consumer genetic-testing marketplace. Trends Genet 26(11):459–461

    Article  PubMed  CAS  Google Scholar 

  • Visscher PM, Brown MA, McCarthy MI, Yang J (2012) Five years of GWAS discovery. Am J Hum Genet 90(1):7–24

    Article  PubMed  CAS  Google Scholar 

  • Wade C, Wilfond BS (2006) Ethical and clinical practice considerations for genetic counselors related to direct-to-consumer marketing of genetic tests. Am J Med Genet Part C (Seminars in Medical Genetics) 142C:284–292

    Article  Google Scholar 

  • Wilde A, Meiser B, Mitchell PB, Hadzi-Pavlovic D, Schofield PR (2011) Community interest in predictive genetic testing for susceptibility to major depressive disorder in a large national sample. Psychol Med 41(8):1605–1614

    Article  PubMed  CAS  Google Scholar 

  • WONCA Europe (2002) The European Definition of General Practice/Family Medicine. http://www.woncaeurope.org/Web%20documents/European%20Definition%20of%20family%20medicine/Definition%20EURACTshort%20version.pdf. Accessed 1 November 2011

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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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