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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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

Sarah L Elson¹, Nicholas A Furlotte¹, Bethann S Hromatka¹

¹23andMe, Inc, Sunnyvale, CA, USA.

Molecular Genetics & Genomic Medicine

|September 17, 2020

Summary

Direct-to-consumer genetic testing for inherited venous thromboembolism (VTE) risk provides perceived benefits. Consumers showed moderate behavioral changes and satisfaction with VTE genetic risk information.

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Area of Science:

Genetics
Personalized Medicine
Public Health

Background:

Clinical genetic testing for inherited venous thromboembolism (VTE) predisposition is common.
Consensus on testing criteria, risks, and benefits remains incomplete.

Purpose of the Study:

To assess outcomes of direct-to-consumer (DTC) genetic testing for VTE risk factors.
Evaluate consumer perception, healthcare provider interactions, and behavioral changes post-testing.

Main Methods:

Online survey of 2,354 23andMe customers with DTC results for Factor V Leiden (FVL) and Prothrombin 20210G>A (PT) variants.
Assessed risk perception, healthcare provider discussions, prevention advice, behavioral actions, emotional responses, and perceived value.

Main Results:

Most variant-positive individuals correctly perceived increased VTE risk.
Moderate rates of discussing results with healthcare providers (41%) and adopting risk-reducing behaviors (30%).
High perceived advantage (78% variant-positive) and satisfaction (81% variant-positive) with knowing genetic VTE risk.

Conclusions:

Consumers report moderate behavioral changes and perceived personal benefit from DTC genetic results for VTE risk.
DTC genetic testing for VTE risk factors can be a valuable tool for informed individuals.