Common glaucoma test can save eyesight before point of no return

Scientists are on the brink of a major breakthrough when it comes to the most common form of glaucoma that leads to blindness, with a huge leap forward in the genetic test an international team has been working on for years. It's massive news for treating the condition early before it takes hold.Researchers at QIMR Berghofer and Australia's Flinders University, together with international collaborators, have made huge improvements on a 2020 version of the test, which is based on a polygenic risk score. Essentially, it looks at millions of genetic variations and combines their effects into a single risk score.The new test is based on the data of a massive six million people, including around 300,000 with glaucoma. The 2020 test was built around data of just 8,000 people with the condition. Preventing glaucoma before it's too late The test identifies those who have a risk factor up to 10 times that of the general population, who are likely to develop open-angle glaucoma – the most common form of glaucoma and the one responsible for the highest rate of blindness worldwide.Basically, an easy test could identify those most likely to develop the disease, and allow medical professionals to intervene early, saving the loss of sight long before signs of glaucoma become apparent (when it's then too late to save someone's sight because deterioration is already happening)."In Australians of European ancestry, people in the highest 10% of genetic risk were 10 times more likely to have glaucoma than everyone else," notes lead researcher Professor Stuart MacGregor, the head of QIMR Berghofer's Statistical Genetics Laboratory."To our knowledge, this is the strongest genetic risk prediction reported for any common complex disease," he adds.The test could identify those in need of early intervention and monitoring for faster treatment, while also removing the need for unnecessary eye exams for those with low risk factors."Glaucoma is very treatable if it is caught early, but many people are diagnosed only after permanent damage has occurred," MacGregor adds. "A test like this can help direct eye care resources to the people who need them most."The issue with glaucoma detection is that damage to the optic nerve generally has no symptoms in its early stages – in fact, the scientists believe that around half of those who develop the disease live most of their lives undiagnosed, even in countries with excellent access to medical intervention."This research has opened the door to a personalised approach to glaucoma risk analysis for the population, family members of patients, and those already showing signs of early stage disease," says Professor Jamie Craig from Flinders University. "It will allow us to get the timing of treatments right to prevent vision loss."Adds MacGregor: "Most of the large genetic datasets available today come from people of European ancestry. Improving accuracy for all populations is an important priority for our next phase of work."The researchers will now work on developing the test for scaling and cost effectiveness, so it can become part of general medical screenings. It has the potential to save the sight of millions of people as they age.The study was published in the journal Ophthalmology.From: QIMR Berghofer via Scimex