An ad hoc committee under the auspices of the National Academies of Sciences, Engineering, and Medicine’s Health and Medicine Division will convene to review and assess the existing methodologies, benefits, and challenges in the use of race and ethnicity and other population descriptors in genomics research. The committee work will focus on, but not be limited to the following tasks:

1. Document and evaluate the variety of population descriptors currently used in genomics research and the potential benefits and challenges of changing these descriptors.

2. Assess how race, ethnicity, and genetic ancestry are currently being used as population descriptors in health disparities research to study genetics and genomics.

3. Assess the appropriate use of race, ethnicity, and genetic ancestry as population descriptors in the determination of genetic risk scores and health risk.

4. Develop feasible and logical approaches to advance appropriate use of race and ethnicity and alternative population descriptors in published genomics research studies.

5. Examine the potential of new, culturally responsive methods and common data elements (CDEs) for advancing harmonization of population descriptors in large genomic studies in the United States and globally.

6. Assess when it is appropriate to use race and ethnicity as population descriptors in genetic and genomic research, and provide recommendations to scientists and researchers for future research.

7. Propose best practices for domestic and international harmonization of population group descriptors.

8. Assess the scientific knowledge of the relationships among race, ethnicity, and population genetic variation.

9. Identify and discuss potential obstacles to implementation of the new methods to describe populations.

10. Discuss potential implementation strategies to help enhance the adoption of best practices by the research community.

11. Identify obstacles and propose best practices in the use of population descriptors with legacy biological samples and associated data.

The final report should describe best practices on the use of race, ethnicity, and genetic ancestry and other population descriptors in genetics and genomics research, as formulated by the committee. Attention should be given to how these best practices could be used by biomedical and scientific communities to increase the robustness of study designs and methods for genetics and genomics research in the United States and globally.

These elements are beyond the scope of this consensus study:

1. Examining the use of race and ethnicity in clinical care

2. Examining racism in science and genomics

3. Examining the use of race and ethnicity in biomedical research generally (non-genetic and genomic research)

4. Providing policy recommendations to NIH and government agencies

NOTE: The statement of task was revised on 09/17/2021.