Patient and Clinician Perspectives on Centralized Cascade Screening for Familial Hypercholesterolemia in the United States: A Qualitative Implementation Study
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Objective
To identify patient- and clinician-reported barriers, facilitators, and design requirements for a centralized cascade-screening program for familial hypercholesterolemia (FH) in the United States.
Methods
From June through November 2023, we conducted individual telephone interviews with 20 patients with FH and 10 clinicians recruited from UT Southwestern Medical Center, Parkland Health, the North Texas Veterans Affairs, and other clinical settings. Interview guides were informed by the Consolidated Framework for Implementation Research. Transcripts were coded in Dedoose using a piloted codebook, with discrepancies and emergent themes resolved through consensus. An advisory panel then helped translate interview findings into program design requirements and implementation strategies.
Results
Five themes characterized barriers and facilitators to centralized cascade screening: (1) health-system access and fragmentation, including screening and treatment costs, transportation, and cross-system coordination; (2) privacy and trust, including concerns about genetic information and unsolicited outreach; (3) family relationships and practical burden, including competing demands, language barriers, limited contact, fear, and denial; (4) clinician capacity and workflow, including limited time, knowledge, and genetic-counseling capacity; and (5) communication and care continuity. Participants recommended proband pre-notification of relatives, culturally and linguistically responsive materials, secure data exchange, standardized scripts, flexible testing pathways, and centralized coordination. These findings informed a program model incorporating a secure pedigree platform, educational and communication resources, testing coordination, and linkage to follow-up care.
Conclusions
Patients and clinicians identified multilevel determinants that a centralized FH cascade-screening program must address. The findings support specific design requirements but do not establish program feasibility or effectiveness, which require prospective evaluation.
Policy implications
Scaling centralized cascade screening will require attention to affordability, privacy, clinician workflow, culturally responsive communication, and continuity of care across health systems.
