Heart Failure Test Seminar: Focus on Genetics and Cardiomyopathies_Test-Focus on Genetics & Cardiomyopathies

Focus on Genetics & Cardiomyopathies - TEST HANDOUT

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The seminar, “Focus on Genetics and Cardiomyopathies,” highlighted the growing importance of cardiogenetic testing in heart failure care and emphasized the gap between current evidence and real-world practice.<br /><br />Key findings from the REIMAGINE-HF initiative showed that genetic testing has increased nearly 10-fold from 2015 to 2025, but access remains uneven. In a national commercial lab dataset of 248,597 tested patients, the overall positive molecular diagnostic yield was 22.2%. The most common actionable genes were MYBPC3, TTN, MYH7, KCNQ1, and TTR. Despite this, testing was concentrated in metropolitan areas, with an urban-to-rural testing ratio of 3.2:1. Black and Hispanic patients were underrepresented among those tested relative to the burden of heart failure in the U.S.<br /><br />The program stressed that early genetic testing can improve patient management, identify inherited cardiomyopathies, guide targeted therapies, and support cascade testing for family members. However, clinicians reported barriers such as workflow complexity, lack of access to genetic counselors, time constraints, and difficulty operationalizing guidelines.<br /><br />HFSA’s REIMAGINE-HF effort aims to close these gaps through multidisciplinary implementation science. Planned tools include standardized care pathways, training, educational resources, and decision support to make guideline-based testing routine in clinical practice.<br /><br />A second section reviewed how genetic testing can affect clinical management, including treatment decisions, follow-up, and family screening, reinforcing that genetics is now a present-day imperative in heart failure care.<br /><br />Overall, the seminar concluded that cardiogenetic testing is valuable, growing rapidly, but still inconsistently implemented. The next phase will focus on practical interventions to improve uptake, equity, and impact in real-world heart failure care.

Keywords

cardiogenetic testing

heart failure

cardiomyopathies

genetic testing

REIMAGINE-HF

MYBPC3

TTN

MYH7

health equity

cascade testing