Open-angle glaucoma diagnosis: polygenic risk score found useful

Key Takeaways

• A study suggests that a risk score based on genetic variants that are associated with open-angle glaucoma is accurate enough to help with diagnosis of the condition.
• Screening patients with the risk score could identify patients who require further evaluation and enable earlier detection and treatment of glaucoma.   

All humans have near-identical DNA sequences across the estimated 6 billion-letter code for their genome, but slight differences, called genomic variants, exist between individuals, making each of us unique. While some diseases can be traced to variations in a single gene, complex diseases, also called polygenic diseases, occur as a result of many genomic variants, paired with environmental influences. An estimate of how the collection of a person’s genomic variants affects their risk for a certain disease is called a polygenic risk score. 

A study presented at the annual meeting of the Association for Research in Vision and Ophthalmology reveals that a risk score incorporating genetic variants for open-angle glaucoma is accurate enough to help with diagnosis of the condition. Although hundreds of genetic changes are linked to the condition, the new study is the first to support using a polygenic risk score to identify patients who require further evaluation. 

About half of glaucoma diagnoses are made when the condition is more advanced, and people have already experienced some loss of vision. Screening with a polygenic risk score in clinical practice could enable earlier detection and treatment, said Hetince Zhao, BS, who led the study. 

Zhao and colleagues used available biobanks for the current study, which tend to have genetic data for people of European descent. They hope to recruit more participants and create a population sample more representative of the US population in a future study. “I look forward to our results in the future, when we can say our polygenic risk score also works for non-European subgroups,” Zhao said.

Edited by Miriam Kaplan, PhD

Source: Damian McNamara, Medscape Medical News, May 8, 2024; see source article