The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics.

Autor: Popejoy AB; Department of Biomedical Data Science, Stanford University, Standford, California., Ritter DI; Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas., Crooks K; Department of Pathology, University of Colorado, Anschutz Medical Campus, Aurora, Colorado.; Department of Medicine, Division of Bioinformatics and Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado., Currey E; Division of Genomics and Society, National Human Genome Research Institute (NHGRI), Bethesda, Maryland., Fullerton SM; Department of Bioethics & Humanities, University of Washington, Seattle, Washington., Hindorff LA; Division of Genomics and Society, National Human Genome Research Institute (NHGRI), Bethesda, Maryland., Koenig B; Department of Anthropology, History, and Social Medicine, University of California, San Francisco., Ramos EM; Division of Genomics and Society, National Human Genome Research Institute (NHGRI), Bethesda, Maryland., Sorokin EP; Department of Biomedical Data Science, Stanford University, Standford, California., Wand H; Department of Biomedical Data Science, Stanford University, Standford, California., Wright MW; Department of Biomedical Data Science, Stanford University, Standford, California., Zou J; Department of Biomedical Data Science, Stanford University, Standford, California., Gignoux CR; Department of Medicine, Division of Bioinformatics and Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado., Bonham VL; Social and Behavioral Research Branch, National Human Genome Research Institute (NHGRI), Bethesda, Maryland., Plon SE; Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas., Bustamante CD; Department of Biomedical Data Science, Stanford University, Standford, California.
Jazyk: angličtina
Zdroj: Human mutation [Hum Mutat] 2018 Nov; Vol. 39 (11), pp. 1713-1720.
DOI: 10.1002/humu.23644
Abstrakt: 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 Database (gnomAD) at clinically relevant sites ascertained from annotations in ClinVar. Our requisition form analysis showed substantial heterogeneity in clinical laboratory ascertainment of REA, as well as marked incongruity among terms used to define REA categories. There was also striking disparity across REA populations in the amount of information available about clinically relevant variants in gnomAD. European ancestral populations constituted the majority of observations (55.8%), allele counts (59.7%), and private alleles (56.1%) in gnomAD at 550 loci with "pathogenic" and "likely pathogenic" expert-reviewed variants in ClinVar. Our findings highlight the importance of implementing and supporting programs to increase diversity in genome sequencing and clinical genomics, as well as measuring uncertainty around population-level datasets that are used in variant interpretation. Finally, we suggest the need for a standardized REA data collection framework to be developed through partnerships and collaborations and adopted across clinical genomics.
(© 2018 Wiley Periodicals, Inc.)
Databáze: MEDLINE
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