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

Autor: Elson SL; 23andMe, Inc, Sunnyvale, CA, USA., Furlotte NA; 23andMe, Inc, Sunnyvale, CA, USA., Hromatka BS; 23andMe, Inc, Sunnyvale, CA, USA., Wilson CH; 23andMe, Inc, Sunnyvale, CA, USA., Mountain JL; 23andMe, Inc, Sunnyvale, CA, USA., Rowbotham HM; 23andMe, Inc, Sunnyvale, CA, USA., Varga EA; Nationwide Children's Hospital, Columbus, OH, USA., Francke U; 23andMe, Inc, Sunnyvale, CA, USA.; Department of Genetics, Stanford University Stanford, CA, USA.
Jazyk: angličtina
Zdroj: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Nov; Vol. 8 (11), pp. e1468. Date of Electronic Publication: 2020 Sep 16.
DOI: 10.1002/mgg3.1468
Abstrakt: 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.
(© 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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