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Use of Race, Ethnicity, and Ancestry as Population Descriptors in Genomics Research

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The National Academies of Sciences, Engineering, and Medicine will establish an ad hoc committee to conduct a study to review and assess existing methodologies, benefits, and challenges in the use of race and ethnicity and other population descriptors in genomics research. The report will describe best practices on the use of race, ethnicity, and genetic ancestry and other population descriptors in genetics and genomics research.

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Key Considerations for Using Population Descriptors

Genetics and genomics research is conducted by a wide range of investigators across disciplines, who often use population descriptors inconsistently and/or inappropriately to capture the complex patterns of continuous human genetic variation. This infographic outlines four key considerations for using population descriptors in genetics and genomics research. 1 2 3 4 Population descriptor ≠ group label. A population descriptor is a way to classify individuals according to perceived differences among groups; a group label is a specific name used to describe a population. Researchers often use population descriptors inconsistently and/or inappropriately. Race, for example, should not be used for analysis in most genomics studies. It may be used for some health disparities studies. Sometimes funders require collection of Office of Management and Budget (OMB) Standards categories to report demographic information of research participants, but use of OMB categories is not required for scientific analysis. Genetic ancestry refers to the lines or paths through an individual’s family tree by which they inherited DNA from specific ancestors. It can be useful when studying human evolutionary history. Genetic similarity, a measure of genetic resemblance among individuals, is preferred in many other contexts because it moves away from race and the misconception that humans can be grouped into discrete categories.
The National Academies’ “Using Population Descriptors in Genetics and Genomics Research” report provides guiding principles and best practices for researchers. Above are four key concepts to keep in mind for using population descriptors.
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