Genetic screening for Familial Hypercholesterolaemia (FH) and other inherited conditions is a cost-effective strategy that has the potential to prevent serious disease and reduce long-term healthcare costs. Despite FH affecting 1 in 250 people, most remain undiagnosed, missing opportunities for early intervention and cost-effective treatment.

A health economic approach supports population-wide screening, cascade screening, and newborn screening as proactive strategies to improve early detection and management. Population-wide screening can identify at-risk individuals beyond those with a known family history, increasing diagnosis rates and enabling timely management and reducing costly hospitalisation. Cascade screening, which tests family members of diagnosed individuals, is highly cost-effective, while newborn screening ensures the earliest possible intervention, leading to lifelong health benefits.

Economic models suggest that investing in early detection could yield significant cost savings by preventing hospital admissions, cardiovascular events, and long-term complications. Shifting from a reactive to a proactive healthcare model can enhance population health, improve quality of life, productivity at work, and offer a cost-effective approach to preventing inherited conditions like FH.