Article
The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics.
Human mutation - 1 Nov 2018
Popejoy Alice B, Ritter Deborah I, Crooks Kristy, Currey Erin, Fullerton Stephanie M, Hindorff Lucia A, Koenig Barbara, Ramos Erin M, Sorokin Elena P, Wand Hannah, Wright Mathew W, Zou James, Gignoux Christopher R, Bonham Vence L, Plon Sharon E, Bustamante Carlos D
Abstract excerpt
The Clinical Genome Resource (ClinGen) Ancestry and Diversity Working Group highlights the need to develop guidance on race, ethnicity, and ancestry (REA) data collection and use in clinical genomics. We present quantitative and qualitative evidence to characterize: (1) acquisition of REA data via clinical laboratory requisition forms, and (2) information disparity across populations in the Genome Aggregation...
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