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Direct-to-Consumer Genetic Testing: A Comprehensive Review

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Abstract

Emerged in the early 2000s, direct-to-consumer (DTC) genetic testing has helped consumers access and understand their genetic information without the involvement of a healthcare provider. Unlike traditional clinical-based testing, in which a healthcare provider is responsible for ordering, testing, interpreting, and communicating the results, DTC testing provides valuable insights directly to individuals about their genetic information. It empowers consumers and their families to be proactive about their health and lifestyle. The online testing format has become increasingly popular due to its accessibility and affordability. However, it raises concerns about the accuracy and reliability of the results, data security and how to ensure privacy for consumers and regulators. A hybrid model combining elements from both DTC and clinical-based genetic testing has surfaced in the market recently. In the US, current health-related DTC genetic tests are not recognized for diagnostic purposes; instead, these tests are intended to provide genetic information that is associated with certain conditions, which may encourage consumers to take the opportunity to discuss the results and their implications with a healthcare provider. This DTC genetic testing review focuses on the fundamental concepts, applications, benefits, limitations, risks, and consumer concerns, as well as the state of the DTC framework compared with the clinical-based and hybrid models. Additionally, the regulatory oversight, data protection, and healthcare professional perspective on DTC genetic testing in the US will be discussed, including current policies and regulations.

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Authors and Affiliations

  1. School of Pharmacy, Temple University, Philadelphia, PA, USA

    Sharon Jiang, Lawrence Liberti & David Lebo

  2. Regulatory Affairs Department, 23andMe, Inc., Sunnyvale, CA, USA

    Sharon Jiang

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  1. Sharon Jiang
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Correspondence to Sharon Jiang.

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Jiang, S., Liberti, L. & Lebo, D. Direct-to-Consumer Genetic Testing: A Comprehensive Review. Ther Innov Regul Sci 57, 1190–1198 (2023). https://doi.org/10.1007/s43441-023-00567-5

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