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Clinical trials imminent for glaucoma genetic test

Flinders University Professor of Ophthalmology Jamie Craig

Australian researchers have led the development of a promising new genetic test for glaucoma that can potentially identify 15-times more people at high risk of glaucoma than an existing genetic test.

Those involved in the work are also launching a spin-off company to develop an accredited test for use in clinical trials, with recruitment expected to begin in 2022.

The latest study results, published in JAMA Ophthalmology, builds on a long-running international collaboration between Flinders University and the QIMR Berghofer Medical Research Institute, and other research partners around the world, to identify genetic risk factors for glaucoma.

The study involved lead researcher Associate Professor Owen Siggs and senior author Professor Jamie Craig, both from Flinders University.

Flinders University Associate Professor Owen Siggs
Associate Professor Owen Siggs, Flinders University and Garvan Institute of Medical Research glaucoma researcher. Credit: Flinders Foundation

Craig, a consulting ophthalmologist who also runs a world-leading glaucoma research program at Flinders University, said the latest research highlighted the potential of the test in glaucoma screening and management.

“Genetic testing is not currently a routine part of glaucoma diagnosis and care, but this test has the potential to change that. We’re now in a strong position to start testing this in clinical trials,” he said.

The studies’ latest results benchmarked the performance of genetic testing on 2,507 Australian individuals with glaucoma, and 411,337 individuals with or without glaucoma in the UK.

The new test, performed on a blood or saliva sample, has the potential to identify high-risk individuals before irreversible vision loss occurs.

“Early diagnosis of glaucoma can lead to vision-saving treatment, and genetic information can potentially give us an edge in making early diagnoses, and better treatment decisions,” Siggs, who is also involved with the Garvan Institute of Medical Research in Sydney, said.

One in 30 Australians will ultimately develop glaucoma, many of whom are diagnosed late due to lack of symptoms. Once diagnosed, several treatment options can slow or halt the progression of glaucoma vision loss.

The abstract of the paper ‘Association of monogenic and polygenic risk with the prevalence of open-angle glaucoma (2021)’, can be found here.

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