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DOI 10.1161/cir.0000000000001304

Медицинская библиотека · Circulation · 2025

Direct-to-Consumer Genetic Testing for Cardiovascular Disease: A Scientific Statement From the American Heart Association.

Hull Leland E, Aday Aaron W, Bui Quan M, Luzum Jasmine A, Muchira James M, Wand Hannah, Chahal C Anwar A, Chung Mina K, Kwitek Anne E, Molossi Silvana, Natarajan Pradeep, American Heart Association Data Science and Precision Medicine Committee of the Council on Genomic and Precision Medicine and Council of Clinical Cardiology; Council on Cardiovascular and Stroke Nursing; Council on Lifestyle and Cardiometabolic Health; and Council on Peripheral Vascular Disease

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Аннотация

Despite insufficient evidence to support direct-to-consumer genetic testing in routine clinical care, cardiovascular clinicians increasingly face questions about its utility and interpretation because individuals can purchase these tests directly from laboratories. A burgeoning marketplace offers an expanding array of testing options. In many cases, direct-to-consumer genetic testing advertises information that could inform one's risk of heritable disease, including insight into having a genetic predisposition to cardiovascular disease or data about gene-drug interactions that could affect response to cardiovascular medications. Navigating clinical questions about direct-to-consumer genetic testing involves understanding the evolution and oversight of the marketplace; the scope of direct-to-consumer genetic testing offerings; and the risks, benefits, and limitations of said testing. In this American Heart Association scientific statement, we summarize the state of the direct-to-consumer genetic testing industry, review types of cardiovascular genetic information that may be included in direct-to-consumer genetic testing, describe approaches to evaluate test quality, and provide resources for clinicians navigating questions about direct-to-consumer genetic testing. If direct-to-consumer genetic test information is used in clinical care, care should be taken to assess the limitations of the test, to contextualize the information specifically to the patient, and to corroborate potentially actionable monogenic findings.

Для цитирования: Hull Leland E, Aday Aaron W, Bui Quan M, Luzum Jasmine A, Muchira James M, Wand Hannah, Chahal C Anwar A, Chung Mina K, Kwitek Anne E, Molossi Silvana, Natarajan Pradeep, American Heart Association Data Science and Precision Medicine Committee of the Council on Genomic and Precision Medicine and Council of Clinical Cardiology; Council on Cardiovascular and Stroke Nursing; Council on Lifestyle and Cardiometabolic Health; and Council on Peripheral Vascular Disease. Direct-to-Consumer Genetic Testing for Cardiovascular Disease: A Scientific Statement From the American Heart Association.. Circulation. 2025. DOI: 10.1161/cir.0000000000001304.

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