National Academies issue report on use of population descriptors in genetics and genomics research

Over the last year, the National Academies of Science, Engineering, and Medicine (NASEM) convened an external interdisciplinary committee of experts to review and assess existing methodologies, benefits, and challenges in the use of population descriptors such as race, ethnicity, and ancestry in genetics and genomics research. The committee released a report in March with a series of recommendations that provide a framework for using such population descriptors in future genetics and genomics studies.

While the fields of genetics and genomics have generally made remarkable scientific progress, the terms used to describe human populations have remained stuck in the past. Genetics and genomics researchers have long been using population descriptors as a proxy to describe human genomic variation. These descriptors have reflected individuals’ nationality, geography, and ethnicity, but genomic variation is complex and fails to track accurately to these labels. 

Importantly, many of these commonly used groupings and labels are sadly rooted in racism and white supremacy and have been used to reinforce long-standing prejudices. In biomedical research, the historical misuse of population descriptors has led to inaccurate and misleading research and scientific conclusions. Incorrect assumptions about the relationship between biological/genomic differences and racial/ethnic categories can perpetuate these damaging biases. The NASEM report begins to provide the necessary tools to ensure that the language used in genetics and genomics research reflects the evolving understanding of the rich diversity of humanity.

The NASEM report urges genetics and genomics researchers to rethink and justify how and why population descriptors are used in their studies. The proposed new framework aims to help researchers use appropriate descriptors and labels in their studies, for example by avoiding using race as a proxy for describing human genomic variation since race is a social construct. Instead, any population descriptors should be tailored for the purpose of the study and be accompanied by explanations for the use of those descriptors. The report details a useful decision tree that can be used by researchers for selecting the appropriate population descriptor(s) in each study. According to the report, using race as a population descriptor is considered appropriate in some cases, such as studying the effects of racism on health. 

The NASEM report also recommends avoiding typological thinking, which assumes that people can be grouped into distinct, fixed, and hierarchical categories. Typological thinking has too often shaped the way genetics and genomics studies have been designed. Moreover, researchers are urged to work in partnership with study participants and community experts to incorporate their perspectives. 

The report’s recommendations will help maintain scientific integrity in genetics and genomics research, for example by informing NHGRI’s ongoing efforts to promote the responsible design and reproducibility of research studies and ensure that all populations benefit from genomic advances. The scientific and medical communities should now benefit from clearer guidance about the appropriate use of population descriptors in research, which will hopefully help efforts to decrease race-based health inequities. With these recommendations, genetics and genomics can become more accessible and meaningful to increasingly diverse audiences. 

Implementing the report’s recommendations will require a coordinated effort from funding agencies, professional societies, journals, institutions, and investigators. This will involve ensuring that future policies and procedures reflect the report’s recommendations. In particular, institutions and funding agencies should incentivize appropriate interdisciplinary collaborations. For example, instead of using race as proxies, genetics and genomics researchers should directly evaluate environmental factors and exposures by working with experts in epidemiology, environmental sciences, and other relevant disciplines. 

NHGRI is amongst 14 NIH institutes, centers, and offices that provided funding for the NASEM report. NHGRI’s Acting Deputy Director Vence Bonham was the NIH study task leader along with Sheri Schully from the All of Us Research Program. The two co-chairs of the NASEM committee, Aravinda Chakravarti, and Charmaine Royale will be making a presentation about the report during the May 2023 meeting of the National Advisory Council for Human Genome Research. For more information, read the full report and recommendations on the NASEM website, watch the report release webinar recordings on the event page, and see the NIH Director’s statement here.

Recent improvements in the efficiency, accuracy, and complexity of genomic analyses have been driven by new technological advances. To help dissemination information about these advances, NHGRI and the NHGRI-funded Technology Development Coordinating Center (TDCC) will host a virtual seminar series with industry leaders and genomic technology developers and users. The objective of this series is to provide biomedical researchers and trainees with a fundamental understanding of new genomic technologies, including emerging opportunities and challenges associated with their optimization and use. The first two sessions on May 17 and 19 will focus on technologies for RNA sequencing and DNA base modification analysis as well as single-molecule protein sequencing. The second set of sessions on May 23 and 25 will focus on advances in single-cell analysis and genome-wide regulatory mechanisms. Each session will be followed by a roundtable discussion and participant question and answer period. Registration is required.

The NHGRI-EBI GWAS Catalog is celebrating its 15th birthday this year. The catalog is a curated resource containing published data from studies on genomic variation related to human health and disease. It was launched by NHGRI in 2008 in response to the rapid increase in the number of published genome-wide association studies (GWAS). These studies provide an unprecedented opportunity to investigate the influence of common genomic variants on complex disease. The GWAS Catalog provides a consistent, searchable, visualizable, and freely available database of information, which can be easily integrated with other resources. It is routinely accessed by scientists, clinicians, and other users worldwide. Curators have catalogued over 515,000 associations from over 6,300 publications. The catalog and related papers have been cited over 5,800 times. Since 2010, the catalog has been maintained through a collaborative project between the European Molecular Biology Laboratory-European Bioinformatics Institute (EMBL-EBI) and NHGRI.

The 8th Annual NHGRI Research Training and Career Development Meeting was held last month. Each year, the meeting provides a venue for all NHGRI-supported trainees to present their research and network with other trainees and established researchers. The meeting included science and career development presentations, invited keynote talks, panel discussions, peer-reviewed platform and poster presentations, breakout sessions, and networking opportunities. More than 300 trainees, faculty, and NHGRI staff attended the meeting in person, with several sessions videocast for those unable to attend in-person.