Using Population Descriptors in Genetics and Genomics Research A New Framework for an Evolving Field (2023) / Chapter Skim
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Appendix A: Study Approach and Methods
Appendix A: Study Approach and Methods
Pages 165-178
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From page 165... ...
EXPERTISE The committee was composed of 17 members with expertise in diverse areas including human genetics, population genetics, clinical genetics, genetic epidemiology, statistical and computational genetics and genomics, anthropology, sociology, social epidemiology, demography and population statistics, and historical, ethical, legal, and social implications research. Committee biographies can be found in Appendix E
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LITERATURE REVIEW Literature relevant to the committee's charge was identified from multiple sources, including targeted staff searches and reviews of previous efforts to identify best practices for the use of population descriptors. National Academies staff conducted a literature search using the databases Embase, Medline, and Scopus.
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SOURCE: National Academies staff, January 20, 2022.
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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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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 Aravinda Chakravarti, Committee Cochair Director, Center for Human Genetics and Genomics Muriel G & George W
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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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APPENDIX A 177 Stacy Christiansen Managing Editor, JAMA Chair, AMA Manual of Styles Hannah Wand Director, Preventive Genomics Program Genetics Counselor Stanford Health Care 4:55–5:00 p.m. Concluding Remarks 5:00 p.m.
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