Polygenic Risk Scores Identify 50% Lifetime Glaucoma Risk in Top FinnGen Percentile

The FinnGen-linked analysis combined genome-wide data with longitudinal health records to compute a glaucoma polygenic risk score. Researchers stratified the population into risk deciles and tracked incident diagnoses plus treatment escalation, including medication counts, laser procedures, and filtering surgery. This observational design captured both incidence and prognosis within one dataset, exceeding prior family-history-only models in predictive accuracy.

High-risk individuals faced earlier onset and faster progression, patterns consistent with earlier smaller PRS studies in UK Biobank and Australian cohorts yet strengthened here by Finland’s unified electronic records. The study highlights how PRS captures cumulative small-effect variants missed by monogenic or pedigree approaches, offering a precision-medicine route to targeted screening decades before optic-nerve damage.

Limitations include European-ancestry restriction and lack of cost-effectiveness modeling. Next required steps are prospective trials embedding PRS into primary-care workflows to measure screening uptake, false-positive rates, and incremental vision-years saved against standard IOP-based protocols.