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. 2020 Nov;8(11):e1468.
doi: 10.1002/mgg3.1468. Epub 2020 Sep 16.

Direct-to-consumer genetic testing for factor V Leiden and prothrombin 20210G>A: the consumer experience

Sarah L Elson  1 , Nicholas A Furlotte  1 , Bethann S Hromatka  1 , Catherine H Wilson  1 , Joanna L Mountain  1 , Helen M Rowbotham  1 , Elizabeth A Varga  2 , Uta Francke  1   3
Affiliations

Direct-to-consumer genetic testing for factor V Leiden and prothrombin 20210G>A: the consumer experience

Sarah L Elson et al. Mol Genet Genomic Med. 2020 Nov.

Abstract

Background: Clinical genetic testing for inherited predisposition to venous thromboembolism (VTE) is common among patients and their families. However, there is incomplete consensus about which individuals should receive testing, and the relative risks and benefits.

Methods: We assessed outcomes of receiving direct-to-consumer (DTC) results for the two most common genetic risk factors for VTE, factor V Leiden in the F5 gene (FVL) and prothrombin 20210G>A in the F2 gene (PT). Two thousand three hundred fifty-four customers (1244 variant-positive and 1110 variant-negative individuals) of the personal genetics company 23andMe, Inc., who had received results online for F5 and F2 variants, participated in an online survey-based study. Participants responded to questions about perception of VTE risk, discussion of results with healthcare providers (HCPs) and recommendations received, actions taken to control risk, emotional responses to receiving risk results, and perceived value of the information.

Results: Most participants (90% of variant-positive individuals, 99% of variant-negative individuals) had not previously been tested for F5 and/or F2 variants. The majority of variant-positive individuals correctly perceived that they were at higher than average risk for developing VTE. These individuals reported moderate rates of discussing results with HCPs (41%); receiving prevention advice from HCPs (31%), and making behavioral changes to control risk (e.g., exercising more, 30%). A minority (36%) of variant-positive individuals worried more after receiving VTE results. Nevertheless, most participants reported that knowing their risk had been an advantage (78% variant-positive and 58% variant-negative) and were satisfied knowing their genetic probability for VTE (81% variant-positive and 67% variant-negative).

Conclusion: Consumers reported moderate rates of behavioral change and perceived personal benefit from receiving DTC genetic results for VTE risk.

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Conflict of interest statement

SLE, NAF, BSH, CHW, JLM, HMR, and UF are current or former employees of 23andMe, Inc.

References

    1. American College of Obstetricians and Gynecologists Women’s Health Care Physicians . (2020). ACOG Practice Bulletin No. 138: Inherited thrombophilias in pregnancy. Obstetrics and Gynecology, 122(3), 706–717. 10.1097/01.AOG.0000433981.36184.4e - DOI - PubMed
    1. Bates, S. M. , Greer, I. A. , Middeldorp, S. , Veenstra, D. L. , Prabulos, A.‐M. , & Vandvik, P. O. ; American College of Chest Physicians . (2012). VTE, thrombophilia, antithrombotic therapy, and pregnancy: Antithrombotic Therapy and Prevention of Thrombosis, 9th ed: American College of Chest Physicians Evidence‐Based Clinical Practice Guidelines. Chest, 141(2 Suppl), e691S–e736S. 10.1378/chest.11-2300 - DOI - PMC - PubMed
    1. Beckman, M. G. , Hooper, W. C. , Critchley, S. E. , & Ortel, T. L. (2010). Venous thromboembolism. American Journal of Preventive Medicine, 38(4), S495–S501. 10.1016/j.amepre.2009.12.017 - DOI - PubMed
    1. Behravesh, S. , Hoang, P. , Nanda, A. , Wallace, A. , Sheth, R. A. , Deipolyi, A. R. , … Oklu, R. (2017). Pathogenesis of thromboembolism and endovascular management. Thrombosis, 2017, 1–13. 10.1155/2017/3039713 - DOI - PMC - PubMed
    1. Bloss, C. S. , Wineinger, N. E. , Darst, B. F. , Schork, N. J. , & Topol, E. J. (2013). Impact of direct‐to‐consumer genomic testing at long term follow‐up. Journal of Medical Genetics, 50(6), 393–400. 10.1136/jmedgenet-2012-101207 - DOI - PubMed