A glaucoma polygenic risk score (PRS) is increasingly recognized as an important summary of glaucoma, reflecting the influence of genetic variants on the development of the disease.
A January 13 webinar featuring two presenters, Dr. Louis Pasquale and Hillary Golden, delved into the polygenic risk score and how it can affect diagnosis and treatment.
Physician and scientist Dr. Pasquale is Professor of Ophthalmology at the Icahn School of Medicine at Mount Sinai. His research focuses on several areas, including the genetic architecture of primary open-angle glaucoma, which is primarily a non- Mendelian disease caused by many variants.
Dr. Pasquale spoke about his involvement in the process and progress in developing a polygenic risk score as a way to find effective screening strategies. Building on many years of research, and access to some of the world’s large glaucoma datasets, scientists identified thousands of genetic variants that increase an individual’s risk of glaucoma and developed this into a genetic risk score. While individually these variants are harmless, together they can produce disease.
What do these advances in glaucoma genetics achieve? Dr. Pasquale explained that an effective risk score:
1. will identify populations with high prevalence of glaucoma making screening more cost-effective.
2. will identify patients at high risk for progressing rapidly who need more aggressive treatment.
3. might identify patients who may not need aggressive treatment, just follow-up because they have a lower genetic risk score for glaucoma.
Can a risk score identify glaucoma? Dr. Pasquale cited encouraging findings.
Among one group that tested at high risk for glaucoma, 51 percent didn’t know they had it. Among another group of participants using the scores, people who had high biogenetic risk factors had more optic nerve cupping, higher IOPs, and lower fiber nerve thickness value regardless of their glaucoma status. People at higher risk were also more likely to present with glaucoma at an earlier age.
Dr. Pasquale stressed that the polygenic risk score was not a diagnostic tool but a risk stratification tool. But with the knowledge of the risk score, he said we’ve come a long way in the last 15 years in terms of coming up with strategies to improve our ability to diagnose and manage glaucoma.
Dr. Pasquale’s presentation was followed by Hillary Gordon, glaucoma patient and coach, who spoke about the risk score from a patient’s perspective. Hillary was diagnosed with severe glaucoma five years ago. She took the genetics test a year ago and learned that her risk was at the high end. Yet no one else in her family had glaucoma. She explained that the test measured 5 risks — your risk vs the general population, your risk compared to other glaucoma patients, the risk of treatment escalation, the risk for invasive incisional surgery and your risk compared to a first-degree relative.
“Personally,” she said, “I believe that knowledge is power. And when you understand your disease and your treatment options, and you understand your risk factors, you can make more informed decisions.”
This webinar was sponsored by SeonixBio. You can learn much more about the findings to date and the availability of the tests by listening to the webinar which is available on YouTube, and via the TGF website.
Article courtesy of The Glaucoma Foundation
