Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field (2023)

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A Study Approach and Methods The committee was asked to produce a report that identifies best prac- tices on the use of race, ethnicity, genetic ancestry, and other population descriptors in genetics and genomics research. To respond to this charge, the committee drew upon the expertise of its members and reviewed data from many sources using targeted outreach to relevant parties, the existing literature, and public input gathered via a series of public meetings and workshops. EXPERTISE The committee was composed of 17 members with expertise in diverse areas including human genetics, population genetics, clinical genetics, ge- netic 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. OUTREACH The committee was especially interested in obtaining input from re- searchers, 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. The announcement was shared on the study webpage, shared as an 163 PREPUBLICATION COPY—Uncorrected Proofs 

164 POPULATION DESCRIPTORS IN GENETICS AND GENOMICS RESEARCH email sent to Health and Medicine Division (HMD) listservs, and posted on various social media platforms. 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? • What population descriptors, if any, should not be used in genom- ics research? • Do all genetics studies need specific population and/or individual descriptors of their study participants? • What aspects of the current use of population descriptors in ge- nomics research need to be changed or improved? • How should population descriptors be used in genomics research moving forward? Comments received from the public were shared with the commit- tee and included in the committee’s public access file. Several members of the public who submitted public comments were invited to share their remarks during public comment sessions at the committee’s virtual public workshops. LITERATURE REVIEW Literature relevant to the committee’s charge was identified from multi- ple 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. These databases index research in biomedicine, health sciences, and other fields; they were searched January 17–20, 2022. Search terms, including MeSH terms,1 comprised vocabulary related to categori- zation and labeling, disparities, concepts of race, and genetics (see Table A-1). Publications in English were included across all demographics and global locations. The timeframe of publication was limited to 1990 to date. Committee members, speakers, and members of the public also submitted relevant articles and comments on the committee’s charge. 1 MeSH terms are from the Medical Subject Headings thesaurus used to index research in the life sciences and enable use of a hierarchical search structure. PREPUBLICATION COPY—Uncorrected Proofs 

APPENDIX A 165 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. SOURCE: National Academies staff, January 20, 2022. PREPUBLICATION COPY—Uncorrected Proofs 

166 POPULATION DESCRIPTORS IN GENETICS AND GENOMICS RESEARCH PUBLIC MEETINGS The committee convened three public meetings and gathered informa- tion from invited expert speakers and members of the public. The com- mittee’s first meeting was held virtually in February 2022, and the public session provided an opportunity for the committee to clarify questions related to the statement of task with the sponsoring organization. Subse- quent public workshops were held virtually on April 4, 2022, and June 14, 2022. The agendas for these meetings are included in chronological order. First Committee Meeting, Open Session February 14, 2022 Session Objective: To hear from the sponsors of the study regarding their perspectives on the charge to the committee. 12:30 p.m. ET Welcome and Goals for the Session Aravinda Chakravarti, New York University, Committee Co-Chair Charmaine Royal, Duke University, Committee Co-Chair 12:40 p.m. 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. Discussion and Q&A with Committee 2:00 p.m. Adjourn Day 1 PREPUBLICATION COPY—Uncorrected Proofs 

APPENDIX A 167 Public Workshop April 4, 2022 11:00 a.m. ET Welcome and Goals for the Workshop Aravinda Chakravarti, Committee Cochair Director, Center for Human Genetics and Genomics Muriel G & George W Singer Professor of Neuroscience & Physiology New York University Grossman School of Medicine Charmaine Royal, Committee Cochair Robert O. 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. Speakers’ Talks (15 minutes each) Pilar Ossorio Professor of Law and Bioethics University of Wisconsin-Madison, Law School University of Wisconsin-Madison, Medical School PREPUBLICATION COPY—Uncorrected Proofs 

168 POPULATION DESCRIPTORS IN GENETICS AND GENOMICS RESEARCH Joseph Graves Professor of Biological Sciences PI: IBIEM@ AT and BEACON@A&T Associate Director, Triangle Center for Evolutionary Medicine Department of Biology North Carolina A&T State University Andrew Clark Jacob Gould Schurman Professor of Population Genetics Nancy and Peter Meinin Family Investigator Associate Director, Cornell Center for Comparative and Population Genomics Interim Chair, Department of Computational Biology Cornell University Rina Bliss Associate Professor of Sociology Rutgers University 12:15 p.m. 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. participants) • To discuss possible ideal descriptors of populations and individuals • To consider standardized or ideal systems of population descriptors 1:30 p.m. Brief Introduction to the Session by the Moderator 1:35 p.m. Speakers’ Talks (15 minutes each) Tesfaye Mersha Associate Professor of Human Quantitative Genetics Department of Pediatrics University of Cincinnati Cincinnati Children’s Hospital Medical Center PREPUBLICATION COPY—Uncorrected Proofs 

APPENDIX A 169 Melinda Mills Director, Leverhulme Centre for Demographic Sciences Nuffield Professor of Sociology University of Oxford Joanna Mountain Consultant 23andMe Eimear Kenny Founding Director, Institute for Genomic Health Professor of Genetics and Medicine Icahn School of Medicine at Mount Sinai Stephanie Malia Fullerton Professor of Bioethics and Humanities University of Washington School of Medicine Adjunct Professor Departments of Epidemiology, Genome Sciences, and Medicine University of Washington Affiliate Investigator, Public Health Sciences Division Fred Hutchinson Cancer Research Center 2:55 p.m. Q&A with Speakers 3:50 p.m. 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? 4:00 p.m. Brief Introduction to the Session by the Moderator PREPUBLICATION COPY—Uncorrected Proofs 

170 POPULATION DESCRIPTORS IN GENETICS AND GENOMICS RESEARCH 4:05 p.m. Speakers’ Comments (5 minutes each) 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. Adjourn PREPUBLICATION COPY—Uncorrected Proofs 

APPENDIX A 171 Public Workshop June 14, 2022 12:30–12:40 p.m. ET Welcome and Goals for the Workshop Charmaine Royal, Committee Cochair Robert O. 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 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? Why are they sampled? What are participants called, and why? • To examine how and why genetics studies should or should not incorporate social categories and environmental factors 12:40–12:45 p.m. Brief Introduction to the Session John Novembre Professor, Department of Human Genetics, Department of Ecology & Evolution University of Chicago PREPUBLICATION COPY—Uncorrected Proofs 

172 POPULATION DESCRIPTORS IN GENETICS AND GENOMICS RESEARCH 12:45–1:45 p.m. Speakers’ Talks Gil McVean Professor of Statistical Genetics Director, Big Data Institute Fellow of Linacre College University of Oxford Akinyemi Oni-Orisan Assistant Professor, Department of Clinical Pharmacy University of California, San Francisco School of Pharmacy Nancy Cox Director, Vanderbilt Genetics Institute Director, Division of Genetic Medicine Mary Phillips Edmonds Gray Professor of Genetics Vanderbilt University Graham Coop Professor, Department of Evolution and Ecology and Center for Population Biology University of California, Davis 1:45–2:25 p.m. 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 PREPUBLICATION COPY—Uncorrected Proofs 

APPENDIX A 173 2:40–2:45 p.m. Brief Introduction to the Session Ann Morning Associate Professor, Department of Sociology Academic Director, 19 Washington Square North (NYU Abu Dhabi in NY) New York University 2:45–3:30 p.m. Speakers’ Talks Phil Tsao Professor (Research), Medicine – Cardiovascular Medicine Stanford University Alice Popejoy Assistant Professor, Department of Public Health Sciences University of California, Davis Mashaal Sohail Associate Professor, Center for Genomic Sciences National Autonomous University of Mexico 3:30–4:00 p.m. Q&A with Speakers 4:00–4:10 p.m. 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? PREPUBLICATION COPY—Uncorrected Proofs 

174 POPULATION DESCRIPTORS IN GENETICS AND GENOMICS RESEARCH 4:10–4:15 p.m. Introduction to the Session Charmaine Royal Robert O. 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. Rajagopalan Associate Director, Training, Evaluation, and Qualitative Research Center for Empathy and Technology, T. Denny Sanford Institute for Empathy and Compassion University of California, San Diego PREPUBLICATION COPY—Uncorrected Proofs 

APPENDIX A 175 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. Adjourn PREPUBLICATION COPY—Uncorrected Proofs 

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