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

Timothy R. Rebbeck, John F.P. Bridges, Jennifer W. Mack, Stacy W. Gray, Jeffrey M. Trent, Suzanne George, Norah L. Crossnohere, Electra D. Paskett, Corrie A. Painter, Nikhil Wagle, Miria Kano, Patricia Nez Henderson, Jeffrey A. Henderson, Shiraz I. Mishra, Cheryl L. Willman, Andrew L. Sussman

Research output: Contribution to journalReview articlepeer-review


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..

Original languageEnglish (US)
Article numbere220603
JournalJAMA Health Forum
Issue number4
StatePublished - Apr 15 2022

ASJC Scopus subject areas

  • Public Health, Environmental and Occupational Health
  • Health Policy


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