Background and objectives: Familial hypercholesterolaemia (FH) is a genetic condition contributing to premature cardiovascular disease. Currently, general practitioners (GPs) do not proactively screen for the condition. This study implemented and evaluated a digital FH self-screening questionnaire administered in general practice.
Method: Patients aged 18-60 years in four general practices were sent an FH screening questionnaire via SMS prior to their GP appointment. The survey identified at-risk patients, and results were exported to the patients' electronic medical record.
Results: In all, 1258 patients were sent the survey; 234 (18.6%) interacted with it, 137 completed self-screening and nine patients were identified as high risk. Self-screening took 3.5 minutes (on average) and was positively evaluated by patients.
Discussion: This proof-of-concept study identified that FH self-screening can be implemented, but further refinements to the self-screening method and interface might be required for greater patient engagement. FH self-screening has the potential to increase FH detection and reduce preventable cardiovascular disease.