New test identifies people at higher risk of glaucoma, the leading cause of irreversible blindness

A new genetic test can pinpoint individuals at up to ten times higher risk of developing open-angle glaucoma, the most prevalent form of the disease and the leading cause of irreversible blindness globally. Published in Ophthalmology, the study conducted by researchers at QIMR Berghofer, Flinders University, and international collaborators demonstrates the test's significant advancement over previous versions.

Early detection is crucial as glaucoma damages the optic nerve without early symptoms, and half of all affected individuals remain undiagnosed, even in regions with excellent eye care access. The test employs a polygenic risk score, integrating the impacts of millions of genetic variations into a single metric of a person's inherited risk.

Utilizing genetic data from over six million individuals, including nearly 300,000 with glaucoma, the new score exhibits a marked improvement in predictive accuracy compared to the 2020 version based on around 8,000 glaucoma cases. Researchers found that in European-descended Australians, those in the top 10% of genetic risk are ten times more likely to develop glaucoma than the general population.

The test predicts an average glaucoma onset 25 years earlier for the highest-risk group and identifies patients more likely to require surgery and treatment, as well as those at greater risk of having affected family members. While the test shows the strongest predictive value in European ancestry, its performance is less robust in other ethnic groups, highlighting the need for further research to improve accuracy across diverse populations and evaluate the cost-effectiveness of incorporating the test into targeted glaucoma screening programs.