Abstract

Polygenic risk scores (PRS) aggregate variants at multiple genetic loci to calculate the likelihood of developing a specific disease. These scores are developed using databases of individuals who have undergone testing, most from European ancestry. This may reduce accuracy for patients of underrepresented ancestral backgrounds. Economic models assessing the value of PRS without exploring the accuracy when used in a diverse population may inaccurately estimate the value of testing, leading to inappropriate coverage, reimbursement, and clinical implementation decisions.

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