This compartmentalisation protects the confidentiality of participants. Not everyone with a high glaucoma genetic risk score will get the disease. Up to 50 per cent of people with the disease do not know they have it.Lead researcher and the head of QIMR Berghofer’s Statistical Genetics Group, Associate Professor Stuart MacGregor, said identifying the new genes has allowed the researchers to develop a glaucoma polygenic risk score (PRS) that can predict who is likely to get the eye disease.“Glaucoma is a genetic disease and the best way to prevent the loss of sight from glaucoma is through early detection and treatment,” Associate Professor MacGregor said.“Our study found that by analysing DNA collected from saliva or blood, we could determine how likely a person was to develop the disease and who should be offered early treatment and/or monitoring.“Importantly, unlike existing eye health checks that are based on eye pressure or optic nerve damage, the genetic test can be done before damage begins so regular screening can be put in place.“Having a high risk score doesn’t mean you will definitely get glaucoma, but knowing you could be at future risk allows people to take the necessary precautions.”Clinical lead researcher and Chair and Academic Head of Ophthalmology at Flinders University, Professor Jamie Craig, said the study results provided hope that mass screening for glaucoma could be offered in the future.“There are Australians who, if they’d had appropriate treatment a few years earlier, wouldn’t have gone blind,” said Professor Craig, who is also a consultant ophthalmologist.“One in 30 Australians has glaucoma, but most people only find out they have it when they go to the optometrist because they are losing vision, or for a general eye check.“Early detection is paramount because existing treatments can’t restore vision that has been lost, and late detection of glaucoma is a major risk factor for blindness.“Glaucoma can arise at any age but most of those affected are in their 50s or older, so our ultimate aim is to be able to offer blood tests to people when they turn 50 so they can find out if they are at risk, and then hopefully act on it.“In most cases, glaucoma can be treated easily using simple eye drops, but this test is likely to be helpful in identifying those who would benefit from more aggressive intervention such as surgery. This prevents researchers from using any sample or data collected from a participant without regulation and review from a third party.Permission to use your health data and biological sample is sought through two stages: a scientific sub-committee that reviews the scientific merit of any data/sample sharing; followed by an ethics committee [made up of varying professions, laypeople and community members] who must determine whether the request is consistent with the participant’s original consent. Australian researchers have identified 107 genes that increase a person’s risk of developing the eye disease glaucoma, and developed a genetic test to detect those at risk of going blind from it. and she said, 'Yes, you do'. Researchers have developed a genetic test to catch the debilitating eye disease glaucoma before it starts to affect a person’s vision.Scientists from QIMR Berghofer and Flinders University have identified 107 genes that increase a person’s risk of developing glaucoma.And they are now looking for 20,000 Australians with glaucoma to take part in a second study to further refine the test.Lead researcher Associate Professor Stuart MacGregor from QIMR said the test would greatly improve outcomes for patients, as glaucoma was progressive and incurable, meaning early detection was the key to managing the condition.“For the around 300,000 people in Australia who have glaucoma, about half don’t even know they have it,” Professor MacGregor said.“By the time they go and get their eyes checked, they’ve got irreversible damage, because all the treatments we have are to prevent the condition getting worse, they can’t resurrect the nerve cells that have died.”Glaucoma is the catch-all term for a group of related diseases of the eye that damage the optic nerve, usually because of high pressure inside the eyeball.It causes a gradual loss of vision, usually starting with peripheral vision, often so gradually the sufferers aren’t aware there is a problem until they have lost a significant portion of their sight.It is the leading cause of irreversible blindness worldwide and is predicted to affect 76 million people by the end of this year.Paul Neumann was 49 when he was diagnosed with glaucoma about 20 years ago, except no one bothered to tell him.“I went in for a new pair of glasses and the optometrist sent me to an ophthalmologist who gave me some drops to take,” Mr Neumann said.“More recently I asked the opthamologist, 'Do I actually have glaucoma?' Glaucoma is one of the most strongly genetic human diseases.


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