Introducing Genetic Testing with Case Finding for Familial Hypercholesterolaemia in Primary Care: Qualitative Study of Patient and Health Professional Experience

Background: Familial hypercholesterolaemia (FH) is a common inherited condition causing elevated cholesterol, premature heart disease, and early death. Although FH can be effectively treated, over 80% of people with FH remain undetected.

Aim: To explore patient and health professional experiences of introducing genetic testing with case finding for FH in primary care.

Design And Setting: Qualitative study in UK general practice.

Method: Semi-structured interviews with a purposeful sample of 41 participants (24 patients and 17 health professionals) from eight practices, using an electronic case-finding tool (FAMCAT) to identify patients with higher likelihood of having FH and who were then offered diagnostic genetic testing in primary care. Data were analysed thematically.

Results: While prior awareness of FH was low, patients were unsurprised to be identified as being at risk, and positive about being offered genetic testing by their practice. Patients not found to have FH were relieved, although some felt frustrated that their high cholesterol lacked a clear cause. Those confirmed to have FH largely expected and accepted this outcome. Practitioners saw detection of FH as an important new opportunity for preventive care. They found the case-finding tool easy to apply and noted patients' high uptake of genetic testing. While they were comfortable referring appropriate patients for further specialist management, GPs sought clearer definition about responsibility for identification and long- term care of FH in future care pathways.

Conclusion: Introducing genetic testing with electronic case finding for FH in primary care was positively experienced by patients and practitioners. Further development of this approach could help improve detection of FH in the general population.