Canadian Cardiovascular Society Clinical Practice Update on Cardiogenetic Testing

This Canadian Cardiovascular Society clinical practice update provides essential guidance on integrating genetic testing into clinical care for inherited cardiovascular conditions, including primary arrhythmias, cardiomyopathies, aortopathies, familial hypercholesterolemia, and congenital heart diseases. Genetic testing for these conditions is crucial for early detection, risk stratification, and management, and significantly influences patient and family outcomes, particularly regarding sudden cardiac death risk. Historically managed within specialized genetics or cardiology clinics, growing demand and limited resources necessitate evolving care pathways for broader integration into general practice. This update outlines foundational steps such as establishing regional cardiogenetic expertise networks, enhancing genetics literacy among providers, and clarifying genetic testing indications and methodologies. It critically examines various clinical care models-traditional medical genetics clinics, multidisciplinary specialty clinics, mainstreaming approaches, and hub-and-spoke models-highlighting their strengths and barriers within the Canadian health care context. Key implementation challenges, including variant interpretation, secondary findings, informed consent complexities, and cascade testing barriers are addressed with practical recommendations for clinicians, genetic counsellors, and health care systems. Furthermore, this document emphasizes strategic planning to effectively manage increasing cardiogenetic testing demands, advocates for increased professional training, equitable resource allocation, national standardization, and policy frameworks. By detailing actionable strategies and promoting collaborative interdisciplinary networks, this update supports clinicians and health care administrators in incorporating cardiogenetic testing into routine cardiovascular care, thereby enhancing clinical outcomes and equity across Canada.