Nov 20, 2024 Story by: Editor
A recent study highlights a significant shortfall in glaucoma risk prediction models, particularly for Black patients, due to their reliance on data predominantly from European and Asian populations. Published in JAMA Ophthalmology, the study reveals that these models often fail to accurately assess glaucoma risk in individuals of African ancestry, potentially denying them timely preventative care.
Researchers analyzed data from over 78,000 patients across the United States and four African nations to evaluate the effectiveness of polygenic risk scores in predicting glaucoma risk. These tools, while effective for European populations with odds ratios reaching up to 7.24, consistently underperformed for African American and Ghanaian patients, indicating a critical gap in predictive accuracy.
“These predictive gaps mean that Black patients may not be accurately classified into high-risk categories for primary open-angle glaucoma,” said Dr. Jennifer M. Chang-Wolf, co-first author of the study and a graduate of Duke University School of Medicine. “This can result in fewer early interventions or preventative strategies for those who need them most.”
Glaucoma, a leading cause of blindness, disproportionately affects people of African descent, who face a fourfold higher risk of vision loss compared to those of European ancestry. Yet, risk models are primarily designed with genetic data from Europeans and Asians, excluding the unique genetic factors of other groups.
“Our study demonstrates the limitations of using models primarily developed for European populations,” noted Dr. Pieter Bonnemaijer, co-senior author from the Department of Epidemiology at Erasmus Medical Center. “Without more accurate and inclusive risk assessment tools, people of African ancestry may not equally benefit from new advances in medical research that use genetic data to predict glaucoma risk.”
The study evaluated three widely used risk models—Gharahkhani, Han, and Craig—by measuring their odds ratios and AUROC (Area Under the Receiver Operating Characteristic Curve) scores. While effective for European populations, these models proved significantly less predictive for African populations, underscoring the need for greater inclusivity in genetic research.
Beyond the numbers, the study highlights a broader issue: the missed opportunity for early intervention in high-risk groups, exacerbating existing health disparities. Effective outreach, education, and screening programs are essential, as are efforts to address treatment costs and adherence challenges. However, the study underscores the importance of incorporating diverse genetic data to fully address disparities in glaucoma outcomes.
“If we are to close the gap in health disparities, we need more inclusive research that leads to accurate, representative tools,” Bonnemaijer emphasized.
The study was a collaborative effort involving the Genetics in Glaucoma Patients of African Descent Study Group, the Million Veteran Program, and several other research institutions. Co-authors included Tyler G. Kinzy and Dr. Jessica N. Cooke Bailey of Case Western Reserve University, with funding from organizations like the BrightFocus Foundation, the National Institutes of Health, and the Veterans Health Administration.
Dr. Chang-Wolf, now pursuing an ophthalmology PhD in the Netherlands, spearheaded the analysis during her time as a Duke medical student, collaborating with researchers from East Carolina University and other institutions. Source: DUSM
