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Meredith Hackmann, Siobhan Addie, Joe Alper, and Sarah H. Beachy, Rapporteurs Roundtable on Genomics and Precision Health Board on Health Sciences Policy Health and Medicine Division PREPUBLICATION COPY—Uncorrected Proofs

THE NATIONAL ACADEMIES PRESS   500 Fifth Street, NW   Washington, DC 20001 This project was supported by contracts between the National Academy of Sci- ences and 23andMe; Air Force Medical Service (Contract No. FA8052-17-P-0007); A ­ merican Academy of Nursing; American College of Medical Genetics and G ­ enomics; American Medical Association; Association for Molecular Pathology; Biogen; Blue Cross and Blue Shield Association; College of American Pathologists; Color Genomics; Department of Veterans Affairs (Contract No. VA240-14-C-0037); Eisai Inc.; Geisinger; Genosity; Health Resources and Services Administration (Con- tract No. HHSH250201500001I/HHSH25034003T/0003); Helix; Illumina, Inc.; The Jackson Laboratory; Janssen Research & Development, LLC; Merck & Co., Inc. (Contract No. CMO-180815-002787); Myriad Women’s Health; National Insti- tutes of Health (Contract No. HHSN263201800029I/Order No. HHSN26300010): All of Us Research Program; National Cancer Institute, National Human Genome Research Institute, National Institute of Mental Health, National Institute of Nurs- ing Research, National Institute on Aging, Office of Disease Prevention; National Society of Genetic Counselors; Pfizer Inc.; Regeneron; The University of Vermont Health Network Medical Group; and Vibrent Health. Any opinions, findings, conclusions, or recommendations expressed in this publication do not necessarily reflect the views of any organization or agency that provided support for the project. International Standard Book Number-13: 978-0-309-XXXXX-X International Standard Book Number-10: 0-309-XXXXX-X Digital Object Identifier: https://doi.org/10.17226/25713 Additional copies of this publication are available from the National Academies Press, 500 Fifth Street, NW, Keck 360, Washington, DC 20001; (800) 624-6242 or (202) 334-3313; http://www.nap.edu. Copyright 2020 by the National Academy of Sciences. All rights reserved. Printed in the United States of America Suggested citation: National Academies of Sciences, Engineering, and Medicine. ­ 2020. Exploring the current landscape of consumer genomics: Proceedings of a workshop. Washington, DC: The National Academies Press. https://doi. org/10.17226/25713. PREPUBLICATION COPY—Uncorrected Proofs

The National Academy of Sciences was established in 1863 by an Act of Congress, signed by President Lincoln, as a private, nongovernmental institu- tion to advise the nation on issues related to science and technology. Members are elected by their peers for outstanding contributions to research. Dr. Marcia McNutt is president. The National Academy of Engineering was established in 1964 under the char- ter of the National Academy of Sciences to bring the practices of engineering to advising the nation. Members are elected by their peers for extraordinary contributions to engineering. Dr. John L. Anderson is president. The National Academy of Medicine (formerly the Institute of Medicine) was established in 1970 under the charter of the National Academy of Sciences to advise the nation on medical and health issues. Members are elected by their peers for distinguished contributions to medicine and health. Dr. Victor J. Dzau is president. The three Academies work together as the National Academies of Sciences, Engi­ eering, and Medicine to provide independent, objective analysis and n a ­ dvice to the nation and conduct other activities to solve complex problems and inform public policy decisions. The National Academies also encourage education and research, recognize outstanding contributions to knowledge, and increase public understanding in matters of science, engineering, and medicine. Learn more about the National Academies of Sciences, Engineering, and Medicine at www.nationalacademies.org. PREPUBLICATION COPY—Uncorrected Proofs

Consensus Study Reports published by the National Academies of Sciences, Engineering, and Medicine document the evidence-based consensus on the study’s statement of task by an authoring committee of experts. Reports typi- cally include findings, conclusions, and recommendations based on information gathered by the committee and the committee’s deliberations. Each report has been subjected to a rigorous and independent peer-review process and it represents the position of the National Academies on the statement of task. Proceedings published by the National Academies of Sciences, Engineering, and Medicine chronicle the presentations and discussions at a workshop, symposium, or other event convened by the National Academies. The statements and ­ pinions o contained in proceedings are those of the participants and are not endorsed by other participants, the planning committee, or the National Academies. For information about other products and activities of the National Academies, please visit www.nationalacademies.org/about/whatwedo. PREPUBLICATION COPY—Uncorrected Proofs

PLANNING COMMITTEE ON EXPLORING THE CURRENT LANDSCAPE OF CONSUMER GENOMICS1 GREG FEERO (Co-Chair), Professor, Department of Community and Family Medicine, Geisel School of Medicine; and Faculty, Maine Dartmouth Family Medicine Residency Program CATHY WICKLUND (Co-Chair), Director, Graduate Program in Genetic Counseling; and Associate Professor, Feinberg School of Medicine, Center for Genetic Medicine, Northwestern University BRUCE BLUMBERG, Professor of Clinical Science and Planning Co-Lead of Faculty Development, Kaiser Permanente School of Medicine NATASHA BONHOMME, Chief Strategy Officer, Genetic Alliance AARON GOLDENBERG, Associate Professor and Research Director, Department of Bioethics and Medical Humanities, Case Western Reserve University School of Medicine GEORGE MENSAH, Director, Center for Translation Research and Implementation Science, National Heart, Lung, and Blood Institute, National Institutes of Health VICTORIA PRATT, Director, Pharmacogenomics and Molecular Genetics Laboratories, Department of Medical and Molecular Genetics, Indiana University School of Medicine DONNA ROSCOE, Supervisory Biologist, Center for Devices and Radiological Health, Food and Drug Administration JACQUELYN TAYLOR, Professor of Nursing, Medicine, and Population Health; Vernice Ferguson Endowed Chair in Health Equity; Director, Meyers Biological Laboratory, New York University College of Nursing and School of Medicine JOYCE TUNG, Vice President, Research, 23andMe Roundtable on Genomics and Precision Health Staff SARAH H. BEACHY, Senior Program Officer and Roundtable Director SIOBHAN ADDIE, Program Officer MEREDITH HACKMANN, Associate Program Officer MICHAEL BERRIOS, Senior Program Assistant 1  The National Academies of Sciences, Engineering, and Medicine’s planning committees are solely responsible for organizing the workshop, identifying topics, and choosing speakers. The responsibility for the published proceedings of a workshop rests with the workshop rap- porteurs and the institution. v PREPUBLICATION COPY—Uncorrected Proofs

Board on Health Sciences Policy Staff BRIDGET BOREL, Administrative Assistant (from October 2019) MARIAM SHELTON, Program Coordinator (until October 2019) ANDREW M. POPE, Board Director vi PREPUBLICATION COPY—Uncorrected Proofs

ROUNDTABLE ON GENOMICS AND PRECISION HEALTH1 GEOFFREY GINSBURG (Co-Chair), Director, Center for Applied Genomics and Precision Medicine; Director, MEDx; Professor of Medicine and Pathology, Duke University School of Medicine; Professor of Biomedical Engineering, Duke Pratt School of Engineering, Professor in School of Nursing, Duke University, Durham, NC MICHELLE PENNY (Co-Chair), Senior Director and Head of the Translational Genome Sciences Group, Biogen, Boston, MA NAOMI ARONSON, Executive Director, Technology Evaluation Center, Blue Cross and Blue Shield Association, Chicago, IL ARIS BARAS, Senior Vice President, Regeneron Pharmaceuticals; General Manager, Regeneron Genetics Center, Tarrytown, NY KARINA BIENFAIT, Principal Scientist, Clinical Pharmacogenomics and Operations, and Head, Global Genomics Policy, Process, and Compliance, Merck and Co., Inc., Kenilworth, NJ VENCE BONHAM, Senior Advisor to the National Human Genome Research Institute Director on Genomics and Health Disparities, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD ANN CASHION (until September 2019), Scientific Director, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD ROBERT B. DARNELL, Heilbrunn Cancer Professor and Senior Physician, Head, Laboratory of Molecular Neuro-Oncology, The Rockefeller University; Investigator, Howard Hughes Medical Institute; Founding Director and Chief Executive Officer Emeritus, New York Genome Center, New York, NY STEPHANIE DEVANEY (from September 2019), Chief Operating Officer, All of Us Research Program, National Institutes of Health KATHERINE DONIGAN, Deputy Director (acting), Personalized Medicine and Molecular Genetics, Center for Devices and Radiological Health, Office of In Vitro Diagnostics and Radiological Health, Food and Drug Administration, Silver Spring, MD W. GREGORY FEERO, Associate Editor and Representative of JAMA; Professor, Department of Community and Family Medicine, Geisel School of Medicine; Faculty, Maine Dartmouth Family Medicine Residency Program, Fairfield, ME 1  The National Academies of Sciences, Engineering, and Medicine’s forums and roundtables do not issue, review, or approve individual documents. The responsibility for the published proceedings of a workshop rests with the workshop rapporteurs and the institution. vii PREPUBLICATION COPY—Uncorrected Proofs

JESSICA GILL (from October 2019), Lasker Clinical Research Scholar, Tissue Injury Branch, Division of Intramural Research, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD MARC GRODMAN, Co-Founder and Chief Executive Officer, Genosity; Assistant Professor of Clinical Medicine, Columbia University, New York, NY JILL M. HAGENKORD (until September 2019), Chief Medical Officer, Color Genomics, Mountain View, CA EMILY HARRIS (until December 2019), Deputy Associate Director, Epidemiology and Genetics Research Program, Division of Cancer Control and Population Sciences, National Cancer Institute, Rockville, MD RICHARD J. HODES, Director, National Institute on Aging, National Institutes of Health, Bethesda, MD PRADUMAN JAIN, Chief Executive Officer, Vibrent Health, Fairfax, VA SEKAR KATHIRESAN, Director, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA MUIN KHOURY, Director, National Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA DAVID LEDBETTER (from January 2020), Executive Vice President and Chief Scientific Officer, Geisinger, Danville, PA CHARLES LEE (from August 2019), Scientific Director and Professor, The Jackson Laboratory for Genomic Medicine, Farmingham, CT THOMAS LEHNER, Director, Office of Genomics Research Coordination, National Institute of Mental Health, National Instistutes of Health, Bethesda, MD DEBRA LEONARD (from January 2020), Representative of the College of American Pathologists; Chair, Pathology and Laboratory Medicine, Pathologist, Professor and Chair, Department of Pathology, The University of Vermont Medical Center, Burlington PATRICK LOERCH, Vice President, Global Head Data Sciences & Prevention Biomarkers, World Without Disease Accelerator, Johnson & Johnson, Boston, MA JAMES LU, Co-Founder and Chief Scientific Officer, Helix, San Mateo, CA SEAN McCONNELL, Senior Policy Analyst, Genomics, American Medical Association, Chicago, IL MONA MILLER (from October 2019), Executive Director, American Society of Human Genetics, Bethesda, MD JENNIFER MOSER, Health Science Specialist, Genomic Medicine Program, Office of Research and Development, Department of Veterans Affairs, Washington, DC viii PREPUBLICATION COPY—Uncorrected Proofs

ANNA PETTERSSON, Senior Director, Science Policy and Advocacy, Pfizer Inc., New York, NY VICTORIA M. PRATT, Representative of the Association for Molecular Pathology; Director, Pharmacogenomics and Molecular Genetics Laboratories, Department of Medical and Molecular Genetics, School of Medicine, Indiana University, Indianapolis, IN NADEEM SARWAR, President, Andover Product Creation Innovation System, Eisai Inc., Cambridge, MA SHERI SCHULLY (until August 2019), Senior Advisor for Disease Prevention, Office of Disease Prevention, National Institutes of Health, Bethesda, MD JOAN A. SCOTT, Director, Division of Services for Children with Special Health Needs, Maternal and Child Health Bureau, Health Resources and Services Administration, Rockville, MD SAM SHEKAR (until June 2019), Chief Medical Officer, Health Information Technology Program, Northrop Grumman Information Systems, McLean, VA NONNIEKAYE SHELBURNE (from January 2020), Program Director, Clinical and Translational Epidemiology Branch, Epidemiology and Genomics Research Program, National Cancer Institute, National Institutes of Health, Bethesda, MD NIKOLETTA SIDIROPOULOS, Associate Professor, Department of Pathology and Laboratory Medicine and Director of Molecular Pathology, The University of Vermont Medical Center and The University of Vermont Health Network Medical Group, Burlington, VT KATHERINE JOHANSEN TABER, Senior Director, Clinical Development, Myriad Women’s Health, South San Francisco, CA RYAN TAFT, Vice President, Scientific Research, Illumina, Inc., San Diego, CA JACQUELYN TAYLOR, Professor of Nursing, Medicine, and Population Health; Vernice Ferguson Endowed Chair in Health Equity; Director, Meyers Biological Laboratory, New York University College of Nursing and School of Medicine, Brooklyn, NY SHARON TERRY, Chief Executive Officer, Genetic Alliance, Washington, DC JOYCE TUNG, Vice President, Research, 23andMe, Mountain View, CA JAMESON VOSS, Chief, Air Force Medical Service Precision Medicine, Air Force Medical Support Agency, Falls Church, VA MICHAEL S. WATSON (until December 2019), Executive Director, American College of Medical Genetics and Genomics, Bethesda, MD ix PREPUBLICATION COPY—Uncorrected Proofs

KAREN E. WECK (until December 2019), Representative of the College of American Pathologists; Professor, Director of the Molecular Genetics Laboratory, Department of Pathology and Laboratory Medicine, University of North Carolina School of Medicine, Chapel Hill CATHERINE A. WICKLUND, Past President, National Society of Genetic Counselors; Director, Graduate Program in Genetic Counseling; Associate Professor, Department of Obstetrics and Gynecology, Northwestern University, Evanston, IL HUNTINGTON F. WILLARD (until December 2019), Director, Geisinger National Precision Health, Rockville, MD JANET K. WILLIAMS, Representative of the American Academy of Nursing; Professor of Nursing, Chair of Behavioral and Social Science, College of Nursing, University of Iowa, Iowa City, IA SARAH WORDSWORTH, Associate Professor and University Lecturer, University of Oxford, Oxford, UK ALICIA ZHOU (from October 2019), Vice President, Research and Scientific Affairs, Color Genomics, San Francisco, CA Roundtable on Genomics and Precision Health Staff SARAH H. BEACHY, Senior Program Officer and Roundtable Director SIOBHAN ADDIE, Program Officer MEREDITH HACKMANN, Associate Program Officer MICHAEL BERRIOS, Senior Program Assistant Board on Health Sciences Policy Staff BRIDGET BOREL, Administrative Assistant (from October 2019) MARIAM SHELTON, Program Coordinator (until October 2019) ANDREW M. POPE, Board Director x PREPUBLICATION COPY—Uncorrected Proofs

Reviewers This Proceedings of a Workshop was reviewed in draft form by indi- viduals chosen for their diverse perspectives and technical expertise. The purpose of this independent review is to provide candid and critical com- ments that will assist the National Academies of Sciences, Engineering, and Medicine in making each published proceedings as sound as possible and to ensure that it meets the institutional standards for quality, objectivity, evi- dence, and responsiveness to the charge. The review comments and draft manuscript remain confidential to protect the integrity of the process. We thank the following individuals for their review of this proceedings: LIDA BENINSON, National Academies of Sciences, Engineering, and Medicine KAREN WECK, University of North Carolina at Chapel Hill Although the reviewers listed above provided many constructive com- ments and suggestions, they were not asked to endorse the content of the proceedings nor did they see the final draft before its release. The review of this proceedings was overseen by BRUCE CALONGE, The Colorado Trust. He responsible for making certain that an independent examination of this proceedings was carried out in accordance with standards of the National Academies and that all review comments were carefully consid- ered. Responsibility for the final content rests entirely with the rapporteurs and the National Academies. xi PREPUBLICATION COPY—Uncorrected Proofs

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Acknowledgments The support of the Roundtable on Genomics and Precision Health was crucial to the planning and conduct of this workshop on Exploring the Current Landscape of Consumer Genomics. Federal sponsors for the workshop were the Air Force Medical Service; Department of Veterans Affairs; Health Resources and Services Administration; National Institutes of Health: National Cancer Institute, National Human Genome Research Institute, National Institute of Mental Health, National Institute of Nurs- ing Research, National Institute on Aging, Office of Disease Prevention, and All of Us Research Program. Nonfederal sponsorship was provided by 23andMe; American Academy of Nursing; American College of Medi- cal Genetics and Genomics; American Medical Association; Association for Molecular Pathology; Biogen; Blue Cross and Blue Shield Association; College of American Pathologists; Color Genomics; Eisai Inc.; Geisinger; Genosity; Helix; Illumina, Inc.; The Jackson Laboratory; Janssen Research & Development, LLC; Merck & Co., Inc.; Myriad Women’s Health; National Society of Genetic Counselors; Pfizer Inc.; Regeneron; The Uni- versity of Vermont Health Network Medical Group; and Vibrent Health. The Roundtable on Genomics and Precision Health wishes to express gratitude to the members of the planning committee for their work in developing an excellent workshop agenda and to the expert speakers who explored the current state of consumer genomics and integration into the health care system. The project director would like to thank the project staff who worked diligently to develop both the workshop and the result- ing proceedings. xiii PREPUBLICATION COPY—Uncorrected Proofs

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Contents ACRONYMS AND ABBREVIATIONS xix 1 INTRODUCTION AND WORKSHOP OVERVIEW 1 Overview of the Workshop, 3 Setting the Stage: The Evolution of Direct-to-Consumer Genetic Testing, 4 2 UNDERSTANDING CONSUMER GENOMICS USE 9 Examining the History and Future of Consumer Genomics Use, 10 Consumer Perspectives, 13 Discussion, 16 3 EXPLORING THE ROLE OF DIVERSITY AND HEALTH DISPARITIES IN CONSUMER GENOMICS 19 Consumer Access and Research Participation, 21 Diversity and the Potential for Disparities, 23 Implications of Genetic Ancestry Testing for Diversity and Communication About Health Risks, 25 Rural and Underserved Populations and Engagement with Genomics Services, 26 Discussion, 30 xv PREPUBLICATION COPY—Uncorrected Proofs

xvi CONTENTS 4 INTEGRATION WITHIN SCIENTIFIC AND MEDICAL COMMUNITIES 33 Incorporating Direct-to-Consumer Data into Complex Disease Research, 34 Integrating Genetics and Genomics Data, 36 Integrating Direct-to-Consumer Data into the Medical Model of Disease, 38 Lessons from a Near-Consumer Testing Experience, 39 Discussion, 41 5 REGULATORY AND HEALTH POLICY ISSUES 45 Data Sharing, Privacy, and Security, 46 Regulation of Consumer Genomics, 49 The Association for Molecular Pathology’s Evolving Position on Consumer Genomics, 53 Discussion, 54 6 HOW CAN CONSUMER GENOMICS BE BETTER INTEGRATED TO IMPROVE HEALTH? 57 Integrating Consumer Genomics into the Health System, 58 Concluding Remarks, 62 REFERENCES 65 APPENDIXES A WORKSHOP AGENDA 71 B SPEAKER BIOGRAPHICAL SKETCHES 77 C STATEMENT OF TASK 85 D REGISTERED ATTENDEES 87 PREPUBLICATION COPY—Uncorrected Proofs

Boxes, Figures, and Table BOXES 3-1 Factors Affecting the Use of Consumer Genomics Services, 28 6-1 Potential Next Steps for the Roundtable and the Genomics Community, 63 FIGURES 1-1 Models for genetic risk screening and testing, 6 2-1 The history of direct-to-consumer (DTC) genomics testing uptake, 11 TABLE 5-1 Recent Developments Regarding the Regulation of Pharmacogenomic Tests, 51 xvii PREPUBLICATION COPY—Uncorrected Proofs

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Acronyms and Abbreviations AMP Association for Molecular Pathology CLIA Clinical Laboratory Improvement Amendments CMS Centers for Medicare & Medicaid Services DTC direct-to-consumer FBI Federal Bureau of Investigation FDA Food and Drug Administration FTC Federal Trade Commission GINA Genetic Information Nondiscrimination Act HIPAA Health Insurance Portability and Accountability Act LDT laboratory-developed test NHGRI National Human Genome Research Institute xix PREPUBLICATION COPY—Uncorrected Proofs

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Consumer genomics, encompassing both direct-to-consumer applications (i.e., genetic testing that is accessed by a consumer directly from a commercial company apart from a health care provider) and consumer-driven genetic testing (i.e., genetic testing ordered by a health care provider in response to an informed patient request), has evolved considerably over the past decade, moving from more personal utility-focused applications outside of traditional health care to interfacing with clinical care in nontraditional ways. As consumer genomics has increasingly intersected with clinical applications, discussions have arisen around the need to demonstrate clinical and analytical validity and clinical utility due to the potential for misinterpretation by consumers. Clinical readiness and interest for this information have presented educational and training challenges for providers. At the same time, consumer genomics has emerged as a potentially innovative mechanism for thinking about health literacy and engaging participants in their health and health care.

To explore the current landscape of consumer genomics and the implications for how genetic test information is used or may be used in research and clinical care, the Roundtable on Genomics and Precision Health of the National Academies of Sciences, Engineering, and Medicine hosted a public workshop on October 29, 2019, in Washington, DC. Discussions included such topics as the diversity of participant populations, the impact of consumer genomics on health literacy and engagement, knowledge gaps related to the use of consumer genomics in clinical care, and regulatory and health policy issues such as data privacy and security. A broad array of stakeholders took part in the workshop, including genomics and consumer genomics experts, epidemiologists, health disparities researchers, clinicians, users of consumer genomics research applications, representatives from patient advocacy groups, payers, bioethicists, regulators, and policy makers. This publication summarizes the presentations and discussion of the workshop.

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