Promise and Peril of a Genotype-First Approach to Mendelian Cardiovascular Disease.

doi:10.1161/JAHA.123.033557

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Article

Promise and Peril of a Genotype-First Approach to Mendelian Cardiovascular Disease.

Journal of the American Heart Association - 5 Nov 2024

Asatryan Babken, Murray Brittney, Tadros Rafik, Rieder Marina, Shah Ravi A, Sharaf Dabbagh Ghaith, Landstrom Andrew P, Dobner Stephan, Munroe Patricia B, Haggerty Christopher M, Medeiros-Domingo Argelia, Owens Anjali T, Kullo Iftikhar J, Semsarian Christopher, Reichlin Tobias, Barth Andreas S, Roden Dan M, James Cynthia A, Ware James S, Chahal C Anwar A

Abstract excerpt

Precision medicine, which among other aspects includes an individual's genomic data in diagnosis and management, has become the standard-of-care for Mendelian cardiovascular disease (CVD). However, early identification and management of asymptomatic patients with potentially lethal and manageable Mendelian CVD through screening, which is the promise of precision health, remains an unsolved challenge. The reduced...

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PMID: 39424414
DOI: 10.1161/JAHA.123.033557

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