Implementing Genetic Cascade Testing for Familial Hypercholesterolemia in Primary Care: Patient and General Practitioner Experiences

PURPOSE: Familial hypercholesterolemia (FH) is a common genetic condition associated with lifelong hypercholesterolemia and increased risk of premature cardiovascular disease. Genetic cascade testing, the systematic identification and testing of at-risk blood relatives of a diagnosed index case, enables early detection and intervention but remains underutilized in primary care. This study explored the experiences of patients and general practitioners (GPs) involved in FH genetic cascade testing to identify barriers and facilitators to implementation. METHODS: A mixed-methods study was conducted using semi-structured interviews with adults diagnosed with FH and parents of children with FH, alongside open-ended questionnaires completed by GPs. Data were collected following delivery of the Enhanced Detection of FH in General Practice (EDIFICE) program and analyzed using reflexive thematic analysis. RESULTS: Twenty patients and 12 GPs participated. Themes included knowledge and understanding of FH, communication and testing challenges, emotional impacts, professional confidence, and system-level barriers. Patients reported variable understanding of FH, distress associated with diagnosis, and difficulties navigating healthcare pathways. GPs recognized the value of cascade testing but identified knowledge gaps, limited communication with specialists, and uncertainty regarding pediatric case management. Both groups highlighted the need for improved educational resources and streamlined referral processes. CONCLUSIONS: FH genetic cascade testing in primary care is a valuable but underused strategy for early cardiovascular risk reduction. Improving practitioner training, patient education, and healthcare system integration may enhance implementation and uptake.