A Framework for Promoting Diversity, Equity, and Inclusion in Genetics and Genomics Research

Authors

Timothy R. Rebbeck, Harvard T.H. Chan School of Public Health, Boston, Massachusetts; Dana-Farber Cancer Institute, Boston, Massachusetts
John F P Bridges, The Ohio State University, Columbus, Ohio
Jennifer W. Mack, Dana-Farber Cancer Institute, Boston, Massachusetts
Stacy W. Gray, City of Hope, Duarte, California
Jeffrey M. Trent, The Translational Genomics Research Institute, Phoenix, Arizona
Suzanne George, Dana-Farber Cancer Institute, Boston, Massachusetts
Norah L. Crossnohere, The Ohio State University, Columbus, Ohio
Electra D. Paskett, The Ohio State University, Columbus, Ohio
Corrie A. Painter, Broad Institute to Broad Institute of MIT and Harvard and Count Me In, Cambridge, Massachusetts
Nikhil Wagle, Dana-Farber Cancer Institute, Boston, Massachusetts; Broad Institute to Broad Institute of MIT and Harvard and Count Me In, Cambridge, Massachusetts
Miria Kano, University of New Mexico Comprehensive Cancer Center and Health Sciences Center, Albuquerque
Patricia Nez Henderson, Black Hills Center for American Indian Health, Rapid City, South Dakota
Jeffrey A. Henderson, Black Hills Center for American Indian Health, Rapid City, South Dakota
Shiraz I. Mishra, University of New Mexico Comprehensive Cancer Center and Health Sciences Center, Albuquerque
Cheryl L. Willman, University of New Mexico Comprehensive Cancer Center and Health Sciences Center, Albuquerque; Mayo Clinic Comprehensive Cancer Center, Mayo Clinic, Rochester, Minnesota
Andrew L. Sussman, University of New Mexico Comprehensive Cancer Center and Health Sciences Center, Albuquerque

Document Type

Article

Publication Date

4-1-2022

Abstract

IMPORTANCE: Research into the genetic and genomic ("genomics") foundations of disease is central to our understanding of disease prevention, early detection, diagnostic accuracy, and therapeutic intervention. Inequitable participation in genomics research by historically excluded populations limits the ability to translate genomic knowledge to achieve health equity and ensure that findings are generalizable to diverse populations.

OBSERVATIONS: We propose a novel framework for promoting diversity, equity, and inclusion in genomics research. Building on principles of community-based participatory research and collective impact frameworks, the framework can guide our understanding of the social, cultural, health system, policy, community, and individual contexts in which engagement and genomics research are being done. Our framework highlights the involvement of a multistakeholder team, including the participants and communities to be engaged, to ensure robust methods for recruitment, retention, return of genomic results, quality of engagement, follow-up, and monitoring of participants.

CONCLUSIONS AND RELEVANCE: The proposed engagement framework will guide investigators in optimizing equitable representation in research and enhancing the rigor of genomics investigation.

Publication Title

JAMA Health Forum

ISSN

2689-0186

Volume

3

Issue

4

DOI

10.1001/jamahealthforum.2022.0603

Recommended Citation

Rebbeck TR, Bridges JFP, Mack JW, Gray SW, Trent JM, George S, Crossnohere NL, Paskett ED, Painter CA, Wagle N, Kano M, Nez Henderson P, Henderson JA, Mishra SI, Willman CL, Sussman AL. A Framework for Promoting Diversity, Equity, and Inclusion in Genetics and Genomics Research. JAMA Health Forum. 2022 Apr;3(4):e220603. doi: 10.1001/jamahealthforum.2022.0603. Epub 2022 Apr 15. PMID: 35755401; PMCID: PMC9223088.