A recent study evaluating the performance of polygenic risk scores (PRSs) for primary open-angle glaucoma (POAG) has found limited predictive accuracy in African-ancestry populations compared to European-ancestry groups. Published in JAMA Ophthalmology, the multicenter cross-sectional study analyzed 11,673 cases and 66,432 controls across 7 ancestral groups, using three established PRSs.

The study, which included data from Tanzania, South Africa, Ghana, Nigeria, and the United States, revealed modest odds ratio increases for the highest-risk quintile in African-ancestry groups. For instance, the Gharahkhani PRS showed odds ratios ranging from 1.68 in Ghanaians to 7.05 in South Africans of mixed ancestry. Similarly, the Han and Craig PRSs demonstrated higher odds ratios in European populations compared to African-ancestry groups.

However, despite these risk stratification improvements, predictive performance — as measured by the area under the receiver operating characteristic curve (AUROC) and liability coefficient of determination (R²) — was consistently lower for African-ancestry populations. These findings underscore the limitations of existing PRSs, which were primarily developed using European and Asian datasets.

The study’s authors emphasized the urgent need for tailored genetic models to improve risk prediction and address disparities in glaucoma care. Developing more inclusive data sets is critical to achieving equitable health outcomes for diverse populations, they concluded.