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

机译：含有的临床迫切性：基因组学中的种族，种族和祖先（Rea）

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Abstract 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.
机译：摘要临床基因组资源（Clingen）祖先和多样性工作组突出了发展种族，种族和祖先（REA）数据收集和在临床基因组中使用的必要性。我们提出了定量和定性证据来表征：（1）通过临床相关网站在基因组聚合数据库（GNOMAD）中的临床相关网站上的临床实验室征用表格和（2）信息差异在临床相关网站上获得的临床相关网站。我们的申请表格分析显示了临床实验室确定的实质性，以及用于定义REA类别的术语之间标记的不协调。在GNOMAD的临床相关变种的信息中，在鉴定的信息中也存在突显差异。欧洲祖先人口构成了大多数观察结果（55.8％），等位基因计数（59.7％）和侏儒的私有等位基因（56.1％），在550个基因座，“致病性”和“可能的致病”专家审查的Clinvar型号。我们的调查结果突出了实施和支持计划以提高基因组测序和临床基因组学的多样性的重要性，以及测量用于变体解释的人口级数据集周围的不确定性。最后，我们建议通过伙伴关系和合作开发标准化的REA数据收集框架，并通过临床基因组学采用。

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