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Glaucoma genetic test taken from mouth swab a step closer to the clinic in Australia

glaucoma genetic test

A $2.9 million funding injection from the Federal Government will support the rollout of a new saliva-based genetic test for glaucoma in Australia. The Adelaide team behind the technology believe it holds the key to improving outcomes for high risk patients and easing pressure on the healthcare system.

Ophthalmologists at Flinders University and The Council of the Queensland Institute of Medical Research have devised a novel glaucoma polygenic risk score (PRS) that identifies those at high risk of losing their sight and prioritises their treatment.

The substantial grant was announced on 23 November 2023 as part of the Australian Government Medical Research Future Fund (MRFF) Genomics Health Futures program, with the funding to help the rollout the test across the country.

According to a statement, until now, there has been no way of determining who will develop vision loss from glaucoma and how to better manage those at risk of developing the disease. Instead, they are commonly monitored every six months, which presents a burden to patients and healthcare systems.

Flinders University Professor of Ophthalmology Jamie Craig
Flinders University’s Professor Jamie Craig says the test represents a paradigm shift in glaucoma management.

It’s hoped the saliva-based test will change the current one-size-fits-all approach to one of a more personalised approach where high-risk patients are managed with specialist input. Meanwhile, those at a low- and intermediate-risk level can be managed safely and less frequently in optometric primary care.

Professor Jamie Craig, Matthew Flinders Distinguished Professor at the College of Medicine and Public Health at Flinders University, said this would markedly improve patient outcomes, quality-of-life, and timely access to care.

“The test will enable a paradigm shift in glaucoma management,” Craig said. “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.

“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.”

Craig said the project would also evaluate patient and clinician satisfaction, safety and cost effectiveness. Once widely adopted, he said PRS would enable clinicians to develop new, and more targeted, interventions for high-risk glaucoma patients.

Craig is part of a multidisciplinary and collaborative team of clinician-scientists and researchers who have a world-leading track record in translational glaucoma research.

The project involves other researchers from Flinders University, University of Tasmania, The Garvan Institute of Medical Research, The Council of the Queensland Institute of Medical Research, University of Western Australia, University of Sydney, University of Adelaide, Macquarie University and University of New South Wales.

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