A cohort study in 402,739 FinnGen participants (21,609 with glaucoma diagnosed after age 40) benchmarked 14 published glaucoma polygenic risk scores (PRS) and evaluated the best-performing PRS for lifetime glaucoma risk, age at onset, and prognosis over 20 years.
The top PRS yielded an HR of 3.32 (95% CI 3.21–3.43) for glaucoma (≥90th vs 20–80th percentile). Lifetime risk by age 85 ranged from 2.5% (<1st percentile) to 45.3% (≥99th percentile). Over 20 years, the highest PRS decile had higher cumulative incidences of medication escalation (60.6% vs 38.4%), laser therapy (39.8% vs 22.9%), and incisional surgery (15.8% vs 9.5%) vs the lowest decile.
- Study population is Finnish (FinnGen), limiting generalizability to non-European ancestries. - Observational design cannot confirm that PRS-guided screening improves outcomes; prospective trials are still needed. - Glaucoma diagnoses rely on registry data, which may miss mild or undiagnosed cases.
A glaucoma PRS substantially stratifies lifetime risk and treatment burden, independently of family history — clinicians could use it to flag high-risk patients for earlier or more intensive screening. Prospective studies on clinical implementation and cost-effectiveness are still needed before routine use.
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