Addressing underrepresentation in genomics research through community engagement

Amy A Lemke; Edward D Esplin; Aaron J Goldenberg; Claudia Gonzaga-Jauregui; Neil A Hanchard; Julie Harris-Wai; Justin E Ideozu; Rosario Isasi; Andrew P Landstrom; Anya E R Prince; Erin Turbitt; Maya Sabatello; Samantha A Schrier Vergano; Matthew R G Taylor; Joon-Ho Yu; Kyle B Brothers; Nanibaa' A Garrison

doi:10.1016/j.ajhg.2022.08.005

Addressing underrepresentation in genomics research through community engagement

Am J Hum Genet. 2022 Sep 1;109(9):1563-1571. doi: 10.1016/j.ajhg.2022.08.005.

Authors

Amy A Lemke¹, Edward D Esplin², Aaron J Goldenberg³, Claudia Gonzaga-Jauregui⁴, Neil A Hanchard⁵, Julie Harris-Wai⁶, Justin E Ideozu⁷, Rosario Isasi⁸, Andrew P Landstrom⁹, Anya E R Prince¹⁰, Erin Turbitt¹¹, Maya Sabatello¹², Samantha A Schrier Vergano¹³, Matthew R G Taylor¹⁴, Joon-Ho Yu¹⁵, Kyle B Brothers¹⁶, Nanibaa' A Garrison¹⁷

Affiliations

¹ Professional Practice and Social Implications Committee, American Society of Human Genetics, Rockville MD, USA; Professional Practice and Social Implications Community Engagement Guidance Writing Group, American Society of Human Genetics, Rockville, MD, USA; Norton Children's Research Institute, affiliated with the University of Louisville School of Medicine, Louisville, KY, USA. Electronic address: amy.lemke@louisville.edu.
² Professional Practice and Social Implications Committee, American Society of Human Genetics, Rockville MD, USA; Professional Practice and Social Implications Community Engagement Guidance Writing Group, American Society of Human Genetics, Rockville, MD, USA; Invitae, San Francisco, CA, USA.
³ Professional Practice and Social Implications Community Engagement Guidance Writing Group, American Society of Human Genetics, Rockville, MD, USA; Department of Bioethics, Case Western Reserve University School of Medicine, Cleveland OH, USA.
⁴ Professional Practice and Social Implications Community Engagement Guidance Writing Group, American Society of Human Genetics, Rockville, MD, USA; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Querétaro, México.
⁵ Professional Practice and Social Implications Community Engagement Guidance Writing Group, American Society of Human Genetics, Rockville, MD, USA; Childhood Complex Disease Genomics Section, Center for Precision Health Research, National Human Genomics Research Institute, National Institutes of Health, Bethesda, MD, USA.
⁶ Professional Practice and Social Implications Community Engagement Guidance Writing Group, American Society of Human Genetics, Rockville, MD, USA; University of California at San Francisco, Department of Social and Behavioral Sciences, Program on Bioethics, Institute for Health and Aging, San Francisco CA, USA.
⁷ Professional Practice and Social Implications Committee, American Society of Human Genetics, Rockville MD, USA; Professional Practice and Social Implications Community Engagement Guidance Writing Group, American Society of Human Genetics, Rockville, MD, USA; Genomic Medicine, Genetic Research Center, AbbVie, Chicago, IL, USA.
⁸ Professional Practice and Social Implications Community Engagement Guidance Writing Group, American Society of Human Genetics, Rockville, MD, USA; Dr. J. T. Macdonald Foundation Department of Human Genetics, University of Miami Leonard M. Miller School of Medicine, Miami FL, USA; John P. Hussman Institute for Human Genomics, University of Miami Leonard M. Miller School of Medicine, Miami FL, USA.
⁹ Professional Practice and Social Implications Committee, American Society of Human Genetics, Rockville MD, USA; Professional Practice and Social Implications Community Engagement Guidance Writing Group, American Society of Human Genetics, Rockville, MD, USA; Department of Pediatrics, Division of Pediatric Cardiology, Duke University School of Medicine, Durham, NC, USA.
¹⁰ Professional Practice and Social Implications Community Engagement Guidance Writing Group, American Society of Human Genetics, Rockville, MD, USA; University of Iowa College of Law, Iowa City IA, USA.
¹¹ Professional Practice and Social Implications Committee, American Society of Human Genetics, Rockville MD, USA; Professional Practice and Social Implications Community Engagement Guidance Writing Group, American Society of Human Genetics, Rockville, MD, USA; Discipline of Genetic Counselling, University of Technology Sydney, Ultimo NSW 2007, Australia.
¹² Professional Practice and Social Implications Community Engagement Guidance Writing Group, American Society of Human Genetics, Rockville, MD, USA; Center for Precision Medicine and Genomics, Department of Medicine, Columbia University, New York, NY, USA; Division of Ethics, Department of Medical Humanities and Ethics, Columbia University, New York, NY, USA.
¹³ Professional Practice and Social Implications Committee, American Society of Human Genetics, Rockville MD, USA; Professional Practice and Social Implications Community Engagement Guidance Writing Group, American Society of Human Genetics, Rockville, MD, USA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
¹⁴ Professional Practice and Social Implications Committee, American Society of Human Genetics, Rockville MD, USA; Professional Practice and Social Implications Community Engagement Guidance Writing Group, American Society of Human Genetics, Rockville, MD, USA; Adult Medical Genetics Program, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
¹⁵ Professional Practice and Social Implications Community Engagement Guidance Writing Group, American Society of Human Genetics, Rockville, MD, USA; Division of Genetic Medicine, Department of Pediatrics , University of Washington School of Medicine, Seattle, WA, USA; Division of Bioethics and Palliative Care, Department of Pediatrics , University of Washington School of Medicine, Seattle, WA, USA; Institute for Public Health Genetics, School of Public Health, University of Washington, Seattle, WA, USA; Treuman Katz Center for Pediatric Bioethics, Seattle Children's Hospital and Research Institute, Seattle, WA, USA.
¹⁶ Professional Practice and Social Implications Committee, American Society of Human Genetics, Rockville MD, USA; Professional Practice and Social Implications Community Engagement Guidance Writing Group, American Society of Human Genetics, Rockville, MD, USA; Norton Children's Research Institute, affiliated with the University of Louisville School of Medicine, Louisville, KY, USA.
¹⁷ Professional Practice and Social Implications Committee, American Society of Human Genetics, Rockville MD, USA; Professional Practice and Social Implications Community Engagement Guidance Writing Group, American Society of Human Genetics, Rockville, MD, USA; Institute for Society and Genetics, University of California, Los Angeles, Los Angeles, CA, USA; Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA; Division of General Internal Medicine and Health Services Research, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.

Abstract

The vision of the American Society of Human Genetics (ASHG) is that people everywhere will realize the benefits of human genetics and genomics. Implicit in that vision is the importance of ensuring that the benefits of human genetics and genomics research are realized in ways that minimize harms and maximize benefits, a goal that can only be achieved through focused efforts to address health inequities and increase the representation of underrepresented communities in genetics and genomics research. This guidance is intended to advance community engagement as an approach that can be used across the research lifecycle. Community engagement uniquely offers researchers in human genetics and genomics an opportunity to pursue that vision successfully, including by addressing underrepresentation in genomics research.

Publication types

Review

MeSH terms

Genomics*
Humans
Research Personnel*
United States

Grants and funding

R01 HG010868/HG/NHGRI NIH HHS/United States