A Custom Global Screening Array for Integrated Familial Hypercholesterolemia Detection and Polygenic Risk Assessment in a Multi-Ethnic New Zealand Population

The article describes the development of a specialized genetic panel called HoloQ Omniscan Waka Te Ira designed to detect familial hypercholesterolaemia (FH) and assess coronary artery disease risk in the New Zealand population. Familial hypercholesterolaemia affects approximately 1 in 313 people worldwide, yet over 90 percent of cases remain undiagnosed. The research team customized a genetic panel with 43,437 genetic variants targeting FH and heart disease, including 6,717 variants in primary FH genes and 14,005 pathogenic variants. The panel captured 938 (84 percent) of all known pathogenic FH variants and achieved high accuracy in predicting disease risk with a value of 0.786. The results demonstrate that this custom panel is necessary for equitable genetic medicine in New Zealand's multi-ethnic population.