Exploring the
Current Landscape of
Consumer Genomics
PROCEEDINGS OF A WORKSHOP
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
THE NATIONAL ACADEMIES PRESS
Washington, DC
www.nap.edu
THE NATIONAL ACADEMIES PRESS 500 Fifth Street, NW Washington, DC 20001
This project was supported by contracts between the National Academy of Sciences and 23andMe; Air Force Medical Service (Contract No. FA8052-17-P-0007); American Academy of Nursing; American College of Medical Genetics and Genomics; 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 (Contract 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 Institutes 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 Nursing 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: 978-0-309-67303-7
International Standard Book Number-10: 0-309-67303-8
Digital Object Identifier: https://doi.org/10.17226/25713
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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.
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PLANNING COMMITTEE ON EXPLORING THE CURRENT LANDSCAPE OF CONSUMER GENOMICS1
W. GREGORY FEERO (Co-Chair), 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
CATHY WICKLUND (Co-Chair), Past President, National Society of Genetic Counselors; Director, Graduate Program in Genetic Counseling; Associate Professor, Feinberg School of Medicine, Center for Genetic Medicine, Northwestern University, Evanston, IL
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, 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
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
___________________
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 rapporteurs and the institution.
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, Senior Board Director
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, and Acting 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, Bethesda, MD
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
___________________
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.
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
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, Farmington, 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, VT
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
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; 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
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, Feinberg School of Medicine, Center for Genetic Medicine, 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, Senior Board Director
Reviewers
This Proceedings of a Workshop was reviewed in draft form by individuals chosen for their diverse perspectives and technical expertise. The purpose of this independent review is to provide candid and critical comments 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, evidence, 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 comments 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 was 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 considered. Responsibility for the final content rests entirely with the rapporteurs and the National Academies.
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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: All of Us Research Program, National Cancer Institute, National Human Genome Research Institute, National Institute of Mental Health, National Institute of Nursing Research, National Institute on Aging, and Office of Disease Prevention. Nonfederal sponsorship was provided by 23andMe; American Academy of Nursing; American College of Medical 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 University 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 resulting proceedings.
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Contents
1 INTRODUCTION AND WORKSHOP OVERVIEW
Setting the Stage: The Evolution of Direct-to-Consumer Genetic Testing
2 UNDERSTANDING CONSUMER GENOMICS USE
Examining the History and Future of Consumer Genomics Use
3 EXPLORING THE ROLE OF DIVERSITY AND HEALTH DISPARITIES IN CONSUMER GENOMICS
Consumer Access and Research Participation
Diversity and the Potential for Disparities
Implications of Genetic Ancestry Testing for Diversity and Communication About Health Risks
Rural and Underserved Populations and Engagement with Genomics Services
4 INTEGRATION WITHIN SCIENTIFIC AND MEDICAL COMMUNITIES
Incorporating Direct-to-Consumer Data into Complex Disease Research
Integrating Genetics and Genomics Data
Integrating Direct-to-Consumer Data into the Medical Model of Disease
Lessons from a Near-Consumer Testing Experience
5 REGULATORY AND HEALTH POLICY ISSUES
Data Sharing, Privacy, and Security
Regulation of Consumer Genomics
The Association for Molecular Pathology’s Evolving Position on Consumer Genomics
6 HOW CAN CONSUMER GENOMICS BE BETTER INTEGRATED TO IMPROVE HEALTH?
Integrating Consumer Genomics into the Health System
Boxes, Figures, and Table
BOXES
3-1 Factors Affecting the Use of Consumer Genomics Services
6-1 Potential Next Steps for the Roundtable and the Genomics Community
FIGURES
1-1 Models for genetic risk screening and testing
2-1 The history of direct-to-consumer (DTC) genomics testing uptake
TABLE
5-1 Recent Developments Regarding the Regulation of Pharmacogenomics Tests
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Acronyms and Abbreviations
ACA | Patient Protection and Affordable Care Act |
ACLA | American Clinical Laboratory Association |
ADA | Americans with Disabilities Act |
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 |
PGen | Personal Genomics |
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