Dominant Actionable Disease Genes

Among phenotype-filtered participants, 3.73% carried at least one pathogenic or likely pathogenic variant in dominant actionable genes. Cardiovascular actionable gene burden was higher than cancer-related and other categories in the Hong Kong Chinese cohort. SCN5A, TTN, LDLR, DSG2, and APOB had markedly higher frequencies than other continental populations. Local familial hypercholesterolemia testing may yield more by focusing on LDLR and APOB than PCSK9 in this cohort. The study assessed 73 ACMG secondary finding genes for dominant autosomal or X-linked disorders. The observed cardiovascular patterns support Chinese-specific prioritization of early disease risk panels.