A qualitative study of perceptions of the care pathway for familial hypercholesterolemia: screening, diagnosis, treatment, and family cascade screening.

Background: Familial hypercholesterolemia (FH) is an autosomal dominant genetic condition that carries increased risk for premature atherosclerotic cardiovascular disease, cardiovascular events, and death. Due to low uptake of evidence-based practices, up to 80% of FH patients remain undiagnosed and most are undertreated. This project aimed to understand patient and clinician perceptions across the care pathway of evidence-based diagnosis and treatment of FH, to inform implementation strategy design for two clinical trials seeking to increase evidence-based care.

Methods: With input from FH experts, we identified key points along the FH care pathway that might be targeted with broad-scale implementation efforts, including: (a) identification of the need for screening; (b) completion of screening test(s); (c) diagnosis; (d) connection to treatment; and (e) family cascade screening (a process used to identify and screen relatives of individuals diagnosed with FH). Then, we conducted qualitative interviews with patients who had participated in a prior FH quality improvement initiative and with clinicians who treat high cholesterol. We analyzed data using thematic analysis.

Results: We interviewed 21 patients and 17 clinicians. Patient themes offered insights related to the impact of family history, reactions to a diagnosis of high cholesterol and/or FH, experiences with FH treatment and clinical care, perceptions of tools to diagnose FH, motivations and preferences for FH screening efforts, and reactions to family screening. Clinician themes offered insights into the perceived value of FH screening and diagnosis, current FH-related practice and context, and attitudes toward tools to aid clinical practice. In both sets of interviews, confusion and misconceptions about what makes FH unique and its clinical implications were common, as were concerns about logistics and competing priorities.

Conclusion: Qualitative inquiry generated insights into several modifiable patient and clinician determinants of engagement with evidence-based implementation along the FH care pathway, many of which can be targeted with behavioral economics strategies that simplify complex decisions and by addressing informational and emotional needs. These findings offer actionable insights to inform future implementation research that seeks to close the evidence-to-practice gap in diagnosis and delivery of evidence-based care for FH.