Familial hypercholesterolemia (FH) is a common genetic condition associated with premature cardiovascular disease. Genetic testing enables definitive diagnosis and cascade screening, yet its uptake remains limited even in cost-free settings. As Singapore implements a national subsidized genetic testing service for FH, understanding persisting barriers to testing is critical to improving service design and implementation. This qualitative study examined individual-level barriers and facilitators of genetic testing (GT) uptake and assessed experiences with genetic testing services to inform optimization of services. Online semi-structured interviews explored perceptions of FH, decision-making regarding GT, and experiences with GT services. 24 participants recruited from tertiary care and community settings, from August to October 2024, including 11 individuals who had undergone FH GT and 13 who declined or remained undecided. Braun and Clarke’s thematic analysis was applied as a framework to identify major themes related to testing decisions and service experiences, supplemented by team-based coding to examine convergence and divergence across tested and untested subgroups. Both tested and untested individuals recognized the personal, familial, and clinical value of GT. Shared facilitators included GT as a tool for definitive diagnosis and identifying family risk, lifestyle motivation, and justification for pursuing medical therapy for their high cholesterol; yet, uptake was undermined by several psychosocial and systemic barriers. Prevalent in both groups was skepticism about the added clinical value of results—especially among individuals already on statins or asymptomatic. Untested participants reported additional distinct concerns related to potential harms (i.e., psychological toll of knowing, social stigma and discrimination, institutional discrimination relating to employment and insurance, and limited information on the testing process and data privacy. Participants who underwent testing reported overall positive service experiences but noted challenges within pre-test procedures (documenting family history, inefficient appointment systems), and post-testing standard of care (long wait for results, heavily technical test result reports). Even with cost coverage, psychosocial and system-level barriers limit the uptake of FH genetic testing. To realize the full potential of genetic screening in cardiovascular care, implementation strategies must go beyond cost elimination to include patient education, structured care pathways, and sustained provider support. These findings have implications for integrating precision medicine into routine cardiovascular prevention globally.
Lenin et al. (Tue,) studied this question.