Mainstream Cardiac Genetic Testing Requires Robust Infrastructure for Safe Scale-Up

A cardiomyopathy program study of 482 patients found pathogenic or likely pathogenic variants in 19.7%, with 18.9% of genotype-positive patients carrying high-risk variants. Variant reclassification affected 1 in 60 patients, while carrier findings accounted for 21.5% of pathogenic variants, highlighting the need for surveillance, genetics referral, and family-screening pathways.