Genetic screening for a clearer future

A new genetic test for glaucoma to be rolled out in Australia holds the key to identifying and prioritising the treatment of those at a high risk of losing their sight due to glaucoma.

Glaucoma is a group of eye diseases that can cause vision loss and blindness by damaging a nerve in the back of the eye called the optic nerve. It is the leading cause of blindness worldwide and can be difficult to predict and diagnose. Many people fail to get an early diagnosis and treatment before irreversible vision loss occurs.

Until now, there was no way of determining who will develop vision loss and how to better manage those at risk of developing glaucoma. Instead, they are commonly monitored every six months, which presents a major burden to patients and healthcare systems.

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.  They have now received a $2.9 million grant from the Australian Government Medical Research Future Fund (MRFF) Genomics Health Futures to roll out the test across Australia.

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, while those at a low- and intermediate-risk level can be managed safely and less frequently in optometric primary care. This will markedly improve patient outcomes, quality of life, and most importantly, timely access to care.

Professor Jamie Craig

“The test will enable a paradigm shift in glaucoma management,” says Professor Jamie Craig, Matthew Flinders Distinguished Professor at the College of Medicine and Public Health at Flinders University.

“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.”

“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,” says Professor Craig.

Professor 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 and are well positioned to bring about major change to benefit Australians at risk of glaucoma blindness.

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.

Professor Jamie Craig has been awarded more than $30 million in funding and has made important genomic discoveries concerning the commonest causes of blindness: glaucoma, diabetic retinopathy, and age-related macular degeneration. Professor Craig is also an NHMRC Senior Practitioner Fellow and is currently the Matthew Flinders Distinguished Professor of Ophthalmology.

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College of Medicine and Public Health