NASEM’s Public Workshop on Use of Population Descriptors in Genomics Research

ASHG 2022 President, Charles Rotimi, PhD
ASHG President, Charles Rotimi, PhD

On April 4, 2022, the National Academies of Sciences, Engineering, and Medicine (NASEM)’s Committee on Use of Race, Ethnicity, and Ancestry as Population Descriptors in Genomics Research (“the Committee”) held a virtual public workshop as part of its work to prepare a report on this topic, which will be published in early 2023. ASHG President Charles Rotimi represented the Society during the event, expanding on written comments submitted by the Society. The Committee welcomes public comments until June 1, which can be submitted here.

About the Committee and Charge: The Committee is charged to review and assess existing methodologies, benefits, and challenges in the use of race and ethnicity and other population descriptors in genomics research. This study is sponsored by 14 institutes, centers, offices, and programs at the National Institutes of Health (NIH), and as part of this workshop, the Committee solicited public comment on the historical and current use of population descriptors and how the use of population descriptors could be improved in the future.

The Committee co-chairs, Drs. Aravinda Chakravarti and Charmaine Royal, explained that the goals of the Committee include:

  • developing feasible and logical approaches to advance appropriate use of race and ethnicity and alternative population descriptors in published genomics research studies,
  • assessing when it is appropriate to use race and ethnicity as population descriptors,
  • proposing best practices for domestic and global harmonization, and
  • providing recommendations to scientists and researchers for future research.

Among the Committee members are many scientists, ethicists, sociologists, and community leaders who are members of ASHG or who participate actively in ASHG’s scientific and organizational life, including Dr. Chakravarti, the 2008 ASHG President, and Dr. Royal, a member of ASHG’s Board of Directors, although all were seated in their roles as scientific leaders and not representing ASHG.

Session 1: Historical and current use of population descriptors in genomics research. The speakers shared different historical perspectives on what has counted as a population, which is a widely discussed and fraught topic given the history of eugenics, ableism, and racism. The panelists universally agreed that race and ethnicity are socio-political constructs, not biological categories. Much of the discussion focused on how genome scientists want a genetically meaningful definition of a population, but that race and ethnicity labels have been inconsistently and improperly used. The Committee noted that, on occasion, it may be appropriate to include racial categories in research, such as when tracking inequity and inclusion or when studying the effects of systemic racism on access to genomic medicine. The panelists observed that given that humans are geographically widespread and diverse, population-based sampling strategies to identify the extent of genetic variation can be difficult. The use of agile population descriptors, including information on social status and environmental exposures, was deemed necessary as these labels depend highly on context. In general, the group agreed that expanding the number of categories that people can use to describe themselves – All of Us takes this approach – captures valuable information that has been missed in previous studies. The panelists also emphasized the importance of community engagement to determine appropriate descriptors.

Session 2: The future use of population descriptors in genomics research and the need to develop an acceptable ontology. Panelists reported that genomic information is increasingly involved in routine clinical care, and questions remain about how to translate and implement genomic medicine that reconciles individual and population-based risk. The group agreed that it is incorrect to identify a genetic risk of a disease without considering socio-environmental risk factors. Panelists also noted that there is a need for individuals and medical providers to be aware of “genetic risk” for screening purposes within ancestry groups; however, polygenic scores can differ based on different population groupings and socio-economic status. Panelists suggested that attention should be given to how the Committee’s recommendations could be used by the research community to increase the robustness of study designs and methods for genetics and genomics research in the United States and globally. Many urged that future uses of population descriptors prioritize the inclusion of multiple types of diversity, involve careful interpretation of genetic differences, and coordinate governance and guidance from diverse stakeholders. The Committee observed that a challenging question remains: how should human ancestry be described given that cultural and social affiliations will continue to evolve?

Session 3: Community input on population descriptors in genomics research. During this session ASHG President Charles Rotimi applauded and encouraged the important work of the Committee and expressed that their work is vital to ASHG’s vision that human genetics and genomics research should benefit people everywhere. Dr. Rotimi shared recommendations that the use of race and ethnicity categories should be eliminated as population descriptors in general, and should be replaced by biologically meaningful terms.

“Greater diversity, equity, and inclusion in our research is a scientific and social imperative. Race and ethnicity are social constructs, and ‘racial’ and ‘ethnic’ categories are currently used as highly imperfect proxies for human genetic variation. ASHG hopes that the Committee will clarify topics and terminology where genetics is not relevant. ASHG is enthusiastic to play a collaborative role to build awareness of NASEM’s recommendations.”

2022 ASHG President, Dr. Charles Rotimi

The panelists then discussed the use of self-reported race, ethnicity, and ancestry, noting they can be useful for characterizing the composition of a cohort in genetics research, and that these terms can be important for measuring the diversity of a cohort and ensuring that research benefits everyone. However, they noted that all too often, imposed labels are used as proxies for human genetic variation. Several speakers described how this is problematic – there is a fraught history of scientists assigning racial labels which ignores the complexity of human genetic ancestry. The group raised that the muddling of genetic ancestry labeling in research is too often correlated with racial groupings such that lay audiences may not appreciate the differences between the scientific use and the colloquial use of these terms. Another point the group discussed is that self-awareness of personal ancestry may not be complete. Members of the panel stressed the need for ethics training for everyone who works on human genetics and genomics research.

Dr. Charles Rotimi and Mona Miller, CEO of ASHG, prepared a letter on behalf of the Society that was shared with NASEM in advance of the public workshop. In it, they communicated that genetics affirms the singularity of the one human race, and that “race” and “ethnicity” labels should be avoided in human genetics and genomics research.

A recording of this workshop will be available here. Meeting materials, including a complete list of the Committee members and speakers, are available at the bottom of this page. The next public workshop for the Committee will take place on June 14; information on how to participate will be shared when it becomes available.

Further Reading

While we understand and acknowledge that there are many valuable resources and contributors on this topic, we are unable to reference all of them. Below are links to some resources for further reading about the past, present, and future use of population descriptors in genomics research.

Race Ethnicity Genetics Working Group. 2005. The use of racial, ethnic, and ancestral categories in human genetics research. American Journal of Human Genetics 77(4): 519-532.

Language used by researchers to describe human populations has evolved over the last 70 years.” (National Human Genome Research Institute/NIH)

Byeon, Y. J. J., R. Islamaj, L. Yeganova, W. J. Wilbur, Z. Lu, L. C. Brody, and V. L. Bonham. 2021. Evolving use of ancestry, ethnicity, and race in genetics research – A survey spanning seven decades. The American Journal of Human Genetics 108: 2215-2223. doi:10.1016/j.ajhg.2021.10.008.

Flanagin, A., T. Frey, and S. L. Christiansen. 2021. Updated guidance on the reporting of race and ethnicity in medical and science journals. JAMA 326(7):621.

Huddart, R., A. E. Fohner, M. Whirl-Carrillo, G. L. Wojcik, C. R. Gignoux, A. B. Popejoy, C. D. Bustamante, R. B. Altman, and T. E. Klein. 2019. Standardized biogeographic grouping system for annotating populations in pharmacogenetic research. Clinical Pharmacology & Therapeutics 105(5):1256-1262.

Kahn, J. 2006. Genes, race, and population: Avoiding a collision of categories. American Journal of Public Health 96(11):1965-1970.

Keita, S., Kittles, R., Royal, C. et al. Conceptualizing human variation. Nat Genet 36, S17–S20 (2004).

Morales, J., D. Welter, E. H. Bowler, M. Cerezo, L. W. Harris, A. C. McMahon, P. Hall, H. A. Junkins, A. Milano, and E. Hastings. 2018. A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS catalog. Genome biology 19(1):1-10.

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