This mixed-methods study explored barriers and facilitators to FH genetic cascade testing in primary care, using semi-structured interviews with FH-diagnosed adults and parents of affected children (n=20), plus open-ended GP questionnaires (n=12), following delivery of the EDIFICE program in general practice.
Five key themes emerged: knowledge gaps about FH, communication and testing challenges, emotional distress at diagnosis, GPs' limited professional confidence, and system-level barriers — with both patients and GPs calling for better educational resources and streamlined referral pathways.
Small, potentially self-selected sample (20 patients, 12 GPs) limits generalizability. Study is set within a single program (EDIFICE), so findings may not transfer to other healthcare systems. GP data came from open-ended questionnaires rather than in-depth interviews, which may reduce depth of professional insights.
GPs should seek FH-specific training and establish clear referral links with lipid clinics before undertaking cascade testing. Providing patients with plain-language FH resources at diagnosis can reduce distress and improve understanding of the need for family testing.
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