Completed
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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Consensus
·2023
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 inconsis...
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Description
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.
Contributors
Committee
Co-Chair
Co-Chair
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Conflict of Interest Disclosure
The conflict of interest policy of the National Academies of Sciences, Engineering, and Medicine (http://www.nationalacademies.org/coi) prohibits the appointment of an individual to a committee authoring a Consensus Study Report if the individual has a conflict of interest that is relevant to the task to be performed. An exception to this prohibition is permitted if the National Academies determines that the conflict is unavoidable and the conflict is publicly disclosed. A determination of a conflict of interest for an individual is not an assessment of that individual’s actual behavior or character or ability to act objectively despite the conflicting interest.
Rick Kittles has a conflict of interest in relation to his service on the Committee on Use of Race, Ethnicity, and Ancestry as Population Descriptors in Genomics Research because of his financial interests in African Ancestry, Inc., a provider of at-home genetic ancestry tests for people of African descent, which could be one way to identify people for genomic research applications.
The National Academies has concluded that for this committee to accomplish the tasks for which it was established, its membership must include at least one person who has substantial relevant experience in population genetics, ancestry-informative genetic markers, and the application of algorithms to determine genetic ancestry. As described in his biographical summary, Dr. Kittles has direct experience in the development and use of algorithms that underlie determination of genetic ancestry. Dr. Kittles has been a leader in genetics and in the discovery of genetic markers for ancestry, and how those markers may correlate with race and health disparities.
The National Academies has determined that the experience and expertise of Dr. Kittles is needed for the committee to accomplish the task for which it has been established. The National Academies could not find another available individual with the equivalent experience and expertise who does not have a conflict of interest. Therefore, the National Academies has concluded that the conflict is unavoidable.
The National Academies believes that Dr. Kittles can serve effectively as a member of the committee, and the committee can produce an objective report, taking into account the composition of the committee, the work to be performed, and the procedures to be followed in completing the study.
Sponsors
All of Us Research Program
National Cancer Institute
National Heart, Lung, and Blood Institute
National Human Genome Research Institute
National Institute of Child Health and Human Development
National Institute of Dental and Craniofacial Research
National Institute of Diabetes and Digestive and Kidney Diseases
National Institute of Environmental Health Sciences
National Institute of Nursing Research
National Institute on Aging
National Institute on Drug Abuse
National Institute on Minority Health and Health Disparities
NIH Office of Behavioral and Social Sciences (OBSSR)
NIH Office of Science Policy
Staff
Sarah Beachy
Lead
Malay Majmundar
Lydia Teferra
Kathryn Asalone
Samantha Schumm
Aparna Cheran
Meredith Hackmann
Leah Cairns
Major units and sub-units
Center for Health, People, and Places
Lead
Health and Medicine Division
Lead
Division of Behavioral and Social Sciences and Education
Lead
Board on Health Sciences Policy
Lead
Committee on Population
Lead
Biomedical and Health Sciences Program Area
Lead
Social and Economic Systems Program Area
Lead
