Heart Failure Seminar: Focus on Genetics and Cardiomyopathies (OnDemand)-Focus on Genetics and Cardiomyopathies

Focus on Genetics and Cardiomyopathies

Pdf Summary

The seminar focused on genetics and cardiomyopathies in heart failure care, emphasizing both the current state of cardiogenetic testing and how to close the gap between guidelines and real-world practice.<br /><br />Key findings from the REIMAGINE-HF initiative showed rapid growth in testing from 2015–2025, with nearly a 10-fold increase in volume. In a commercial lab dataset of 248,597 tested patients, the overall positive molecular diagnosis rate was 22.2%. The most common actionable genes were MYBPC3, TTN, MYH7, KCNQ1, and TTR. Despite this growth, testing remained uneven: metropolitan areas had a 3.2:1 urban-to-rural testing ratio, and Black and Hispanic patients were underrepresented relative to their heart failure burden.<br /><br />The presentation highlighted that only about 1% of eligible heart failure patients are estimated to receive genetic testing in current practice, underscoring a major implementation gap. Speakers stressed that genetics is now a present-day imperative in heart failure, not a future consideration.<br /><br />HFSA’s REIMAGINE-HF program aims to address barriers through multidisciplinary collaboration and implementation science. Its framework includes standardized care pathways, training, CME learning, patient resources, and workflow tools designed to help clinicians identify who needs testing, when to order it, and how to manage positive results. Design-thinking sessions with clinicians and genetic counselors revealed that current guidelines can be too complex for broad adoption, especially in community settings, and that simpler workflows and better tools are needed.<br /><br />The seminar also introduced GEN-CARD, a study examining how genetic testing affects clinical management for patients and their families. Overall, the event reinforced that cardiogenetic testing has meaningful diagnostic and management value, but broader, more equitable implementation is urgently needed.

Keywords

cardiogenetics

heart failure

genetic testing

cardiomyopathies

REIMAGINE-HF

implementation science

MYBPC3

TTN

equity in healthcare

GEN-CARD