Using Population Descriptors in Genetics and Genomics Research

By National Academies of Sciences, Engineering, and Medicine, Division of Behavioral and Social Sciences and Education, Committee on Population, Health and Medicine Division, Board on Health Sciences Policy, Committee on the Use of Race Ethnicity and Ancestry as

Using Population Descriptors in Genetics and Genomics Research
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Genetic and genomic information has become far more accessible, and research using human genetic data has grown exponentially over the past decade. Genetics and genomics research is now being 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.

In response to a request from the National Institutes of Health, the National Academies assembled an interdisciplinary committee of expert volunteers to conduct a study to review and assess existing methodologies, benefits, and challenges in using race, ethnicity, ancestry, and other population descriptors in genomics research. The resulting report focuses on understanding the current use of population descriptors in genomics research, examining best practices for researchers, and identifying processes for adopting best practices within the biomedical and scientific communities.