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

Video Transcription

Video Summary

The session introduced the HFSA “Reimagine Heart Failure” initiative, aimed at improving awareness, implementation, and equity in cardiogenetic testing for heart failure patients. Speakers reviewed national commercial-lab data from more than 248,000 tested individuals over 10 years and showed that testing has grown about tenfold, but remains highly underused, with fewer than 2% of eligible heart failure patients currently tested. Testing was concentrated in urban areas, with metropolitan rates about 3.2 times higher than rural regions, and Black and Hispanic patients were underrepresented relative to need.<br /><br />The data showed meaningful diagnostic yield: about 22% of patients received a positive molecular diagnosis, with MYBPC3 the most common gene. The team emphasized that genetic testing is not only useful for diagnosis but often changes management. In a GenCard study, more than half of patients with positive or non-positive results had management changes, including medication changes, additional imaging, specialist referral, rhythm monitoring, and family screening. Even negative results sometimes informed care.<br /><br />A major focus was implementation. Through stakeholder sessions and design thinking, the team identified barriers such as unclear workflow ownership, dependence on expert genetics centers, and overreliance on family history before testing. The group advocated for practical tools such as eligibility algorithms, EMR prompts, care pathways, and multidisciplinary workflows to help non-genetics providers order testing more easily.<br /><br />Audience questions highlighted concerns about insurance coverage, VUS reclassification, retesting intervals, and penetrance. The speakers stressed that variant review is best handled collaboratively with labs and genetic counselors, and that repeat testing may be appropriate every few years as panels evolve. Overall, the seminar called for broader, more equitable adoption of cardiogenetic testing in routine heart failure care.

Keywords

heart failure

cardiogenetic testing

genetic testing

equity

diagnostic yield

MYBPC3

implementation barriers

urban rural disparity

management changes

family screening