Expanded Access to Genetic Testing for Cardiomyopathy Is Cost Effective

Expansion of genetic testing in asymptomatic relatives of patients with dilated cardiomyopathy (DCM) to guide clinical surveillance is cost-effective, according to a study published in Genetics in Medicine. The authors call for greater access to called cascade testing, rather than just periodic clinical surveillance. “As the DCM pathogenic variant detection rate rises and new evidence for personalized treatment of at-risk individuals becomes available, the cost-effectiveness of cascade testing will further increase,” write the authors led by Max Catchpool, from the University of Melbourne in Australia. “This has important implications for the evaluation of DCM and suggests that those with a family history of the condition should have improved access to specialized cardiac genetic services.” Asymptomatic DCM is estimated to affect more than one in 250 individuals. Yet, international professional associations do not routinely recommend genetic testing for all patients diagnosed with DCM and their relatives. The eight-year old recommendations call for testing only among patients with significant cardiac conduction disease and/or a family history of premature unexpected sudden death, but do call for periodic clinical surveillance (every 1 to 5 years) for relatives (e.g., physical examination, electrocardiography, and echocardiography). The researchers built a model that incorporated findings from 87 patients […]