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Race and Ethnicity Stratification for Polygenic Risk Score Analyses May Mask Disparities in Hispanics

Shoa L. Clarke, Rose D. L. Huang, Austin T. Hilliard, Catherine Tcheandjieu, Julie A. Lynch, Scott M. Damrauer, Kyong‐Mi Chang, Philip S. Tsao, Themistocles L. Assimes

2022Circulation23 citationsDOIOpen Access PDF

Abstract

Polygenic risk scores (PRSs) are central to the development of precision medicine.However, decades of Euro-centric genomics research have paved the way for disparities in their clinical applications. 1,2Current PRSs may provide weaker predictions for populations with significant non-European ancestry. 1Counter to this observation, studies of coronary artery disease (CAD) PRSs have shown similar predictive power in Hispanic and non-Hispanic White populations, 3,4 despite Hispanics being significantly underrepresented in genomewide association studies and PRS development studies. 2 We hypothesized that PRSs provide weaker risk predictions for some Hispanics, but this disparity is masked when the diverse Hispanic population is aggregated into a single group.

Topics & Concepts

MedicinePolygenic risk scoreRace (biology)Ethnic groupRisk stratificationDemographyStratification (seeds)Health equityGerontologyInternal medicineGeneticsPublic healthGenePathologySingle-nucleotide polymorphismGenotypeDormancySociologySeed dormancyBiologyGerminationBotanyAnthropologyAdvanced Causal Inference TechniquesHealth Systems, Economic Evaluations, Quality of LifeGenetic Associations and Epidemiology
Race and Ethnicity Stratification for Polygenic Risk Score Analyses May Mask Disparities in Hispanics | Litcius