“Best Yet” – New Genetic Test for Glaucoma Is 15x More Likely to Detect High-Risk Patients

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The newest examinations into an appealing brand-new hereditary test for glaucoma — the leading reason for loss of sight worldwide — has actually discovered it has the capability to recognize 15 times more individuals at high threat of glaucoma than a current hereditary test.

The research study, simply released in JAMA Ophthalmology, constructs on a long-running global partnership in between Flinders University and the QIMR Berghofer Medical Research Institute and other research study partners all over the world to recognize hereditary threat aspects for glaucoma. “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,” states lead scientist Associate Professor Owen Siggs, from Flinders University in South Australia and the Garvan Institute of Medical Research in Sydney, NSW.

Owen Siggs

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

Senior author, Flinders University Professor Jamie Craig, states the most recent research study highlights the capacity 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,” states Professor Craig, a consulting eye doctor who likewise runs a in world-leading glaucoma research study program at Flinders University, moneyed by Australia’s NHMRC.

The newest outcomes benchmarked the efficiency of hereditary screening on 2507 Australian people with glaucoma, and 411,337 people with or without glaucoma in the UK.

One in 30 Australians will eventually establish glaucoma, a lot of whom are identified late due to absence of signs.

Once identified, numerous treatment choices can slow or stop the development of glaucoma vision loss.

Jamie Craig

Flinders University Professor of Ophthalmology Jamie Craig. Credit: Flinders University

The brand-new test, carried out on a blood or saliva sample, has the possible to recognize high-risk people prior to irreparable vision loss happens.

Members of the research study group are likewise introducing a spin-out business to establish a recognized test for usage in scientific trials, with recruitment anticipated to start in 2022.

Reference: “Association of monogenic and polygenic risk with the prevalence of open-angle glaucoma” by OM Siggs, X Han, A Qassim, E Souzeau, S Kuruvilla, HN Marshall, S Mullany, DA Mackey, AW Hewitt, P Gharahkhani, S MacGregor and JE Craig, 15 July 2021, JAMA Ophthalmology.

Acknowledgements: The research study was moneyed by the National Health and Medical Research Council (NHMRC), and the Rebecca L Cooper Medical Research Foundation.

Declaration: Conflict of interest statement is that a few of the authors have actually submitted a patent associated to this test (JEC, AWH, SM), and/or are cofounders in a business formed to advertise the test (OMS, JEC, AWH, SM).



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