Glaucoma genetic risk test, Digi Mart USA News: Researchers at QIMR Berghofer and Flinders University in Australia, working with international collaborators, have reported major improvements to a genetic test for glaucoma. The work builds on a 2020 version of the test, which uses a polygenic risk score that combines the effects of millions of genetic variations into a single risk estimate.
The updated test draws on data from about six million people, including around 300,000 with glaucoma. The earlier version was based on data from roughly 8,000 people with the condition.
According to the report, individuals identified by the test as having a risk up to 10 times that of the general population are likely to develop open-angle glaucoma, the most common form of the disease and the leading cause of blindness worldwide.
Lead researcher Professor Stuart MacGregor of QIMR Berghofer said that among Australians of European ancestry, people in the highest 10 percent of genetic risk were 10 times more likely to have glaucoma than others. He described it as the strongest genetic risk prediction reported to date for any common complex disease.
The researchers say early detection matters because optic nerve damage often has no symptoms in its early stages. They estimate that around half of people who develop the disease live most of their lives undiagnosed, even in countries with good access to medical care.
The test could help direct monitoring and treatment to those at greatest risk while reducing unnecessary eye exams for people with low genetic risk.
Professor Jamie Craig of Flinders University said the research opens the door to a more personalised approach to glaucoma risk analysis for the general population, family members of patients and people already showing early signs of the disease. MacGregor noted that most large genetic datasets come from people of European ancestry, and that improving accuracy for all populations is a priority for the next phase of work.
The team plans to develop the test for scaling and cost effectiveness so it could become part of routine medical screening. The study was published in the journal Ophthalmology.
