New Genetic Test for Glaucoma Promises Personalized Treatment in Australia

New Genetic Test for Glaucoma Promises Personalized Treatment in Australia

November 28, 2023

In a groundbreaking development, ophthalmologists at Flinders University and The Council of the Queensland Institute of Medical Research have unveiled a revolutionary genetic test for glaucoma that is set to transform the way the condition is diagnosed and treated in Australia.

The innovative test, funded by a $2.9 million grant from the Australian Government Medical Research Future Fund (MRFF) Genomics Health Futures, aims to identify individuals at a high risk of losing their sight due to glaucoma and prioritize their treatment accordingly.

Until now, predicting who would develop vision loss from glaucoma and how to effectively manage those at risk has been a significant challenge. Patients have typically undergone routine monitoring every six months, creating a substantial burden on both patients and healthcare systems.

The newly devised glaucoma polygenic risk score (PRS) offers a groundbreaking solution. This saliva-based genetic test allows for a more personalized approach to glaucoma management. High-risk patients identified by the test will receive specialized treatment, while those at low- and intermediate-risk levels can be safely and less frequently managed in optometric primary care settings.

The $2.9 million grant from the MRFF Genomics Health Futures will enable the widespread rollout of this genetic test across Australia. The shift from a one-size-fits-all monitoring strategy to a personalized approach is expected to have a profound impact on patient outcomes, quality of life, and, most importantly, timely access to care.

“This will be Australia’s first validation study of a clinic-ready PRS for glaucoma, with collaboration across academia, primary/specialist care, consumer and industry. It is an exciting new opportunity to give patients an early diagnosis of glaucoma which can then lead to vision-saving treatment,” said Professor Jamie Craig, Matthew Flinders Distinguished Professor at the College of Medicine and Public Health at Flinders University.

“Early diagnosis and timely intervention is key, and our strategy will focus on reducing the time it takes for a high risk patient to reach specialist care and intervention. We plan to develop and deliver a scalable approach for the genetic test, ready to be adopted in both community and specialist care settings across urban and regional locations. The project will also evaluate patient and clinician satisfaction, safety and cost-effectiveness.  Once widely adopted, PRS will enable clinicians to develop new, and more targeted, interventions and treatments for high-risk glaucoma patients,” stated Professor Craig.