Genetic Testing Underutilization in Patients with Cardiomyopathy: A Real-World Data Analysis

Ana Morales,Chad Moretz,Sheng Ren,Elizabeth Smith, Tom Callis, Joline Dalton, Taryn Hall,Kathryn Hatchell, Jaime Murillo,Robert L. Nussbaum,Ellen Regalado,Susan Rojahn,Matteo Vatta,Edward D. Esplin

CIRCULATION（2021）

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摘要

US professional guidelines support genetic testing (GT) for dilated, hypertrophic, restrictive, arrhythmogenic, and peripartum cardiomyopathy to confirm a diagnosis, guide management, enable clinical trials, and/or allow more informed genetic counselling. Data from a commercial laboratory showed that 1 in 4 individuals who had cardiomyopathy GT billed to a US health insurer had a positive result; however, which patients undergo GT is largely unknown.

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