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April 2018

A Collaborative Community Model for Including Minorities in Genetic Research

Author Affiliations
  • 1Scheie Eye Institute, University of Pennsylvania, Philadelphia
JAMA Ophthalmol. 2018;136(4):313-314. doi:10.1001/jamaophthalmol.2018.0225

Genetic research has largely excluded ethnic minorities, contributing to a disparity that has far-reaching consequences for health, longevity, and quality of life in these populations. As of 2016, the percentage of genome-wide association study participants who were of African, Latino, Pacific Islander, Arab, Middle Eastern, or Native American descent was less than 3% combined. Most participants (81%) were of European ancestry.1 Many hereditary diseases that chronically overaffect minority populations, such as primary open-angle glaucoma, have mainly been studied in white patients. Primary open-angle glaucoma is 5 times more prevalent and appears 10 years earlier in African American than in European American persons,2 yet the genetics of this disease have been minimally studied in the most overaffected group. The frequency of a condition that can cause blindness in midlife perpetuates a cycle of poverty affecting patients and their families. Excluding minorities from health research limits the ability to appropriately care for these populations and skews the scientific understanding of disease. However, organized initiatives to include minorities in health research have the potential to improve care in underserved communities.

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