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

Video Transcription

Video Summary

The session introduced the HFSA “Reimagine Heart Failure” initiative, focused on improving genetic testing for heart failure and cardiomyopathy. Dr. Yahya framed the problem: heart failure affects more than 6.8 million U.S. adults, about 1 in 5 cases may have a genetic cause, yet fewer than 2% of eligible patients receive cardiogenetic testing.<br /><br />Dr. Mustafa Ahmed and Dr. Melvin Echols presented Phase 1 national data from a commercial laboratory covering over 248,000 tested individuals. Findings showed testing has grown about tenfold from 2015 to 2025, but is unevenly distributed, concentrated in urban centers, and underrepresents Black and Hispanic patients. Roughly 22% of tests yielded a positive molecular diagnosis, with MYBPC3 as the most common gene. The data highlighted major geographic and demographic disparities.<br /><br />Anna Morales then described how the initiative is moving from data to implementation. Through stakeholder design sessions, clinicians identified key workflow breakdowns in testing, referral, and family history collection. The group emphasized practical solutions such as a clear care pathway, decision algorithms, EMR prompts, and tools that enable non-genetics providers. A major goal is to standardize testing in real-world heart failure clinics.<br /><br />Dr. Anjali Owens presented real-world evidence showing that genetic test results often change management for both patients and family members. In her study, over half of patients with management changes had recommendations affecting their own care, including medications, imaging, device consideration, and follow-up testing. She stressed that even negative results can influence clinical decisions.<br /><br />The panel also discussed barriers such as insurance coverage, limited access to genetic counseling, and how to handle variants of uncertain significance. Overall, the program concluded that genetic testing is underused but clinically meaningful, and better implementation models are needed to improve equitable access and outcomes.

Keywords

heart failure

cardiomyopathy

genetic testing

cardiogenetics

HFSA Reimagine Heart Failure

MYBPC3

health disparities

electronic medical record prompts

genetic counseling

molecular diagnosis