Opportunities and Challenges in Translating Genomics into Population Health Impact: Lessons from Familial...

Familial hypercholesterolemia (FH) is a common, autosomal dominant genetic disorder characterized by lifelong elevations in low-density lipoprotein cholesterol and a markedly increased risk of premature atherosclerotic cardiovascular disease. Despite a well-defined genetic architecture, highly effective therapies, and strong evidence demonstrating the benefits of early identification and treatment, FH has historically remained underdiagnosed and undertreated worldwide. This persistent gap highlights broader challenges in translating genomic discovery into measurable population health impact.

In this review, we examine how initiatives led by the Centers for Disease Control and Prevention, the Family Heart Foundation, and other stakeholders have advanced awareness, case identification, surveillance, evidence-based care, and implementation of genomic medicine in cardiovascular disease prevention. Using the framework of the Essential Public Health Services - assessment, policy development, and assurance/implementation - we evaluate progress achieved, identify implementation barriers, and highlight opportunities and recommendations to strengthen the population-level impact of FH detection, treatment, and prevention efforts.

The FH experience provides valuable lessons for other genomic conditions, demonstrating that achieving public health benefit requires more than scientific discovery. Greater investment in implementation science, a continued focus on health equity, and sustained systems-level engagement will be essential to translate genomic knowledge into durable and scalable improvements in population health.