Familial hypercholesterolaemia (FH) can be relatively straightforward to manage with early detection and treatment. However, gaps in diagnosis, treatment, and the application of evidence-based care often prevent optimal outcomes.

Implementation science addresses these gaps by identifying barriers and creating strategies to integrate evidence-based care into routine health services. For FH, this means ensuring timely diagnosis and care for all individuals. Genetic testing, a key diagnostic tool, remains underutilized in clinical workflows. By studying real-world settings, implementation science develops approaches to make genetic screening more accessible.

A promising example is the “Primary-Tertiary Shared Care Model” in New South Wales, Australia. This model enhances FH detection by combining primary care and specialist services, with a strong focus on cascade testing—systematically testing relatives of individuals diagnosed with FH. General practitioners (GPs) are supported by specialist clinics to facilitate cascade testing, providing tailored resources like genetic counselling. Early findings suggest that engaging GPs through targeted education and support significantly boosts genetic testing uptake.

Implementation science also promotes equity in FH care by addressing socioeconomic, geographic, and cultural barriers. Strategies such as telehealth and culturally tailored tools help extend care to underserved populations.

The goal of implementation science in FH care is to ensure effective interventions reach those in need. By translating research into practice, this approach can transform FH management, saving lives and improving health outcomes for families.