Using Population Descriptors in Genetics and Genomics Research A New Framework for an Evolving Field (2023) / Chapter Skim
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2008. The ambiguous meanings of the racial/ethnic categories routinely used in human genetics research.
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OUTREACH The committee was especially interested in obtaining input from researchers, advocates, publishers, and other interested public parties on the effectiveness of current population descriptors in genomics research and the future use of population descriptors. To that end, the committee issued a call for public comments on March 9, 2022, that was open until June 1, 2022.
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The request focused on comments related to a series of questions: • How do you identify yourself, and how do you think that should be incorporated into genetics research studies? • How are population descriptors such as race, ethnicity, and ances try being used or not used effectively in genomics research?
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APPENDIX A 167 TABLE A-1 Literature Search Terms Group A Group B Group C Group D Categories Bias, implicit/ Ancestry Biotechnology/ Categorization Bias/ Concepts of Genetics, Classification Discrimination race population/ Controlled vocabulary Disparities Constructs of Genetics/ Data collection/ Diversity race Genetic testing/ Databases, genetic/ Equity Demography/ Genome, human/ Databases as topic/ Health inequities/ Ethnic groups/ Genomics/ Datasets Health status Ethnicity/ Genotype Datasets as topic/ disparities/ Ethnogenetic Human genetics/ Descriptors Implicit bias Ethnoracial Human genome Forms as topic/ Inequalities Heredity Pharmacogenetics/ Keywords Inequity Population Pharmacogenomics Labeling Nondiscrimination demographics Population genetics Medical records/ Prejudice/ Population Metadata/ Racism/ groups/ Nomenclature Stereotyping/ Race OMB descriptors Systemic racism/ Racial groups/ Office of Management and Budget Questionnaires Race categories Racial categories Race variables Racial variables Race models Registers Registry Reporting Screening Self-report/ Subject headings/ Surveys Surveys and questionnaires/ Systematized Nomenclature of Medicine/ Terminology Terminology as topic/ Vocabulary Vocabulary, controlled/ NOTE: / indicates MeSH terms. The search strategy consisted of Group A + Group B + Group C + Group D
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NIH Presents the Charge to the Committee Presenter: Eric Green, Director, National Human Genome Research Institute Panelists: • Vence Bonham, Acting Deputy Director, National Human Genome Research Institute • Stephen Chanock, Director, Division of Can cer Epidemiology & Genetics, National Cancer Institute • Eliseo J Pérez-Stable, Director, National Insti tute on Minority Health and Health Disparities • Sheri Schully, Deputy Chief Medical and Scien tific Officer, All of Us Research Program 1:10 p.m.
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Keohane Professor of African & African American Studies, Biology, Global Health, and Family Medicine & Community Health Director, Duke Center on Genomics, Race, Identity, Difference and Duke Center for Truth, Racial Healing & Transformation Duke University Session I: Historical and Current Use of Population Descriptors in Genomics Research Moderator: Sandra Soo-Jin Lee, Columbia University Session Objectives: • To explore historical use of population descriptors to better under stand current use • To examine whom researchers study in genomics investigations • To explore why researchers identify individuals and populations in genomics studies • To examine and identify the criticisms and challenges in current use of population descriptors in genomics research 11:10 a.m. Brief Introduction to the Session by the Moderator 11:15 a.m.
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Q&A with Speakers 1:00 p.m. Break Session II: Future Use of Population Descriptors in Genomics Research Moderator: Rick Kittles, City of Hope Session Objectives: • To consider the diverse types of population and individual de scriptors (e.g., origins, definitions, and usage in the United States, implications for non-U.S.
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Break Session III: Community Input on Population Descriptors in Genomics Research Moderator: Katrina Claw, University of Colorado Denver – Anschutz Medical Campus Session Objectives: • To hear from a variety of interested parties on the following topics: • What works and does not work about the current population descriptors used in genomics research? • What could be improved in current use of population descrip tors in genomics research?
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Catherine Potenski Chief Editor Nature Genetics Donna Cryer President and CEO Global Liver Institute Agustín Fuentes Professor Department of Anthropology Princeton University Charles Rotimi President American Society for Human Genetics Judit Kumuthini Bioinformatics Manager Human Capacity Development Manager: Bioinformatics University of Western Cape Shishi Luo Associate Director, Bioinformatics and Infectious Diseases Helix Genomics Julia Ortega Vice President iHope Genetic Health Genetic Alliance Keolu Fox Assistant Professor Department of Anthropology University of California, San Diego 4:55 p.m. Concluding Remarks 5:00 p.m.
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Singer Professor of Neuroscience & Physiology New York University Grossman School of Medicine Session I: Examining Use of Population Descriptors in Genomics Research Moderator: John Novembre, University of Chicago Session Objectives: • To explore what types of population descriptors are needed for genetics and genomics studies • What is a genetics study trying to accomplish? • Who is sampled?
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Q&A with Speakers 2:25–2:40 p.m. Break Session II: Use of Population Descriptors by Biobanks and Other Research Consortia Moderator: Ann Morning, New York University Session Objectives: • To examine how and why biobanks use taxonomies currently, es pecially in areas of large diversity • To explore how legacy data might be managed and merged with future data • To learn how large-scale data collection projects are designed
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Break Session III: Community Input on Population Descriptors in Genomics Research Moderator: Charmaine Royal, Duke University Session Objective: • To hear from a variety of interested parties on the following topics: • What works and does not work about the current population descriptors used in genomics research? • What could be improved in the current use of population de scriptors in genomics research?
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Keohane Professor of African & African American Studies, Biology, Global Health, and Family Medicine & Community Health Director, Duke Center on Genomics, Race, Identity, Difference and Duke Center for Truth, Racial Healing & Transformation Duke University 4:15–4:55 p.m. Speakers' Comments Jennifer Webster Senior Director, Precision Medicine RWE Lead Pfizer Santiago Molina Postdoctoral Fellow, Sociology/Science in Human Culture Department of Sociology Weinberg College of Arts & Sciences Northwestern University Norbert Tavares Program Manager, Cell Biology Chan-Zuckerberg Initiative King Jordan Professor, School of Biological Sciences Director, Bioinformatics Graduate Program Georgia Institute of Technology Dianalee McKnight Medical Affairs Director, Emerging Clinical Omics Invitae Ramya M
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