Understanding Disparities in
Access to Genomic Medicine
PROCEEDINGS OF A WORKSHOP
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 PRESS500 Fifth Street, NWWashington, DC 20001
This project was supported by contracts between the National Academy of Sciences and 23andMe (unnumbered contract); Accenture (Contract No. 6000020406); Air Force Medical Service (Contract No. FA8052-17-P-0007); American Academy of Nursing (unnumbered contract); American College of Medical Genetics and Genomics (unnumbered contract); American Medical Association (unnumbered contract); Association for Molecular Pathology (unnumbered contract); Biogen (unnumbered contract); Blue Cross and Blue Shield Association (unnumbered contract); College of American Pathologists (unnumbered contract); Color Genomics (unnumbered contract); Counsyl (unnumbered contract); Department of Veterans Affairs (Contract No. VA240-14-C-0037); Eisai Inc. (unnumbered contract); Geisinger (unnumbered contract); Genosity (unnumbered contract); Health Resources and Services Administration (Contract No. HHSH250201500001I/ HHSH25034003T/0003); Illumina, Inc. (unnumbered contract); Janssen Research & Development, LLC (unnumbered contract); Kaiser Permanente (Contract No. 20642915); Marc Grodman (unnumbered contract); Merck & Co., Inc. (Contract No. CMO-180815-002787); National Institutes of Health (Contract No. HHSN263201200074I; Task Order No. HHSN26300066): 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; National Society of Genetic Counselors (unnumbered contract); Northrop Grumman Health IT (unnumbered contract); Pfizer Inc. (unnumbered contract); Regeneron Pharmaceuticals (unnumbered contract); and The University of Vermont Medical Center and The University of Vermont Health Network Medical Group (unnumbered contract). 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: 978-0-309-48525-8
International Standard Book Number-10: 0-309-48525-8
Digital Object Identifier: https://doi.org/10.17226/25277
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Suggested citation: National Academies of Sciences, Engineering, and Medicine. 2018. Understanding disparities in access to genomic medicine: Proceedings of a workshop. Washington, DC: The National Academies Press. doi: https://doi.org/10.17226/25277.
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PLANNING COMMITTEE ON UNDERSTANDING DISPARITIES IN ACCESS TO GENOMIC MEDICINE1
VENCE BONHAM, JR. (Co-Chair), Senior Advisor, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD
CATHERINE A. WICKLUND (Co-Chair), Past President, National Society of Genetic Counselors; Director, Graduate Program in Genetic Counseling; and Associate Professor, Department of Obstetrics and Gynecology, Northwestern University, Evanston, IL
BERNICE COLEMAN, Research Scientist, Cedars-Sinai Medical Center, Los Angeles, CA
W. GREGORY FEERO, Associate Editor, JAMA, and Faculty, Maine–Dartmouth Family Medicine Residency Program, Fairfield, ME
STEPHANIE MALIA FULLERTON, Associate Professor, Bioethics and Humanities, University of Washington School of Medicine, Seattle
DARRELL J. GASKIN, Deputy Director, Center for Health Disparities, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD
VICTORIA M. PRATT, President, Association for Molecular Pathology; Associate Professor, Clinical Medical and Molecular Genetics; and Director, Pharmacogenomics Diagnostic Laboratory, Department of Medical and Molecular Genetics, School of Medicine, Indiana University, Indianapolis
BRUCE QUINN, Principal, Bruce Quinn Associates LLC, Los Angeles, CA
ELDA RAILEY, Co-Founder, Research Advocacy Network, Plano, TX
SHERI SCHULLY, Senior Advisor for Disease Prevention, Office of Disease Prevention, National Institutes of Health, Bethesda, MD
SAM SHEKAR, Chief Medical Officer, Health Information Technology Program, Northrop Grumman Information Systems, McLean, VA
JANET K. WILLIAMS, American Academy of Nursing, and Professor of Nursing, Chair of Behavioral and Social Science, College of Nursing, University of Iowa, Iowa City
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, Research Associate
REBECCA RAY, Senior Program Assistant
Board on Health Sciences Policy Staff
STEPHANIE YOUNG, Program Coordinator (until August 2018)
MARIAM SHELTON, Program Coordinator (from September 2018)
ANDREW M. POPE, Board Director
ROUNDTABLE ON GENOMICS AND PRECISION HEALTH1
GEOFFREY GINSBURG (Co-Chair), Director, Center for Applied Genomics and Precision Medicine, Duke University, Durham, NC
SHARON TERRY (Co-Chair until June 2018), President and Chief Executive Officer, Genetic Alliance, Washington, DC
MICHELLE PENNY (Co-Chair from June 2018), 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
NAZNEEN AZIZ (until June 2018), Executive Director, Kaiser Permanente Research Bank, Kaiser Permanente, Oakland, CA
ARIS BARAS, Vice President and Head, Regeneron Genetics Center, Regeneron, Tarrytown, NY
JOHN BELMONT (from September 2018), Senior Principal Medical Scientist, Clinical Genomics Group, Illumina, Inc., San Diego, CA
KARINA BIENFAIT (from January 2018), Principal Scientist and Head, Global Genomics Policy, Process, and Compliance, Merck & Co., Inc., Kenilworth, NJ
REBECCA BLANCHARD (until January 2018), Executive Director, Genetics and Pharmacogenomics, Head of Clinical Pharmacogenomics, Merck & Co., Inc., Kenilworth, NJ
RUTH BRENNER (until July 2018), Chief of Air Force Medical Support Personalized Medicine, Air Force Medical Support Agency, Falls Church, VA
ANN CASHION, Scientific Director, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD
ROBERT B. DARNELL, Investigator, Howard Hughes Medical Institute; Heilbrunn Cancer Professor and Senior Physician, Head, Laboratory of Molecular Neuro-Oncology, The Rockefeller University, New York, NY
JOSEPH DONAHUE, Managing Director, Global Life Sciences Research and Development, Accenture, Berwyn, PA
W. GREGORY FEERO, Associate Editor, JAMA, and Faculty, Maine–Dartmouth Family Medicine Residency Program, Fairfield, ME
ANDREW N. FREEDMAN (until February 2018), Branch Chief, Clinical and Translational Epidemiology Branch, Epidemiology and Genetics Research Program, Division of Cancer Control and Population Sciences, National Cancer Institute, Rockville, 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.
MARC GRODMAN, Co-Founder and Chief Executive Officer, Genosity, and Assistant Professor of Clinical Medicine, Columbia University, New York, NY
JILL M. HAGENKORD, Chief Medical Officer, Color Genomics, Mountain View, CA
EMILY HARRIS (from February 2018), 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
MUIN KHOURY, Director, National Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA
THOMAS LEHNER, Director, Office of Genomics Research Coordination, National Institute of Mental Health, National Institutes of Health, Bethesda, MD
DEBRA LEONARD, College of American Pathologists, and Professor and Chair of Pathology and Laboratory Medicine, College of Medicine, University of Vermont, Burlington
DAVID LITWACK (until September 2018), Staff Fellow, U.S. Food and Drug Administration, Silver Spring, MD
SEAN McCONNELL, Senior Policy Analyst, Genomics, American Medical Association, Chicago, IL
ROBERT McCORMACK (until March 2018), Head, Biomarker Translation, Disease Interceptor Accelerator, Janssen Research & Development, LLC, Raritan, NJ
JENNIFER MOSER, Health Science Specialist, Genomic Medicine Program, Office of Research and Development, Department of Veterans Affairs, Washington, DC
ANNA PETTERSSON (from June 2018), Senior Director, Science Policy and Advocacy, Pfizer Inc., New York, NY
VICTORIA M. PRATT, President, Association for Molecular Pathology; Associate Professor, Clinical Medical and Molecular Genetics; and Director, Pharmacogenomics Diagnostic Laboratory, Department of Medical and Molecular Genetics, School of Medicine, Indiana University, Indianapolis
LAURA LYMAN RODRIGUEZ, Senior Advisor to the Director for Research Policy, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD
NADEEM SARWAR, President, Andover Product Creation Innovation System, Eisai Inc., Cambridge, MA
SHERI SCHULLY, Senior Advisor for Disease Prevention, Office of Disease Prevention, National Institutes of Health, Bethesda, MD
JOAN A. SCOTT, Chief, Genetic Services Branch, Division of Services for Children with Special Health Needs, Maternal and Child Health Bureau, Rockville, MD
SAM SHEKAR, Chief Medical Officer, Health Information Technology Program, Northrop Grumman Information Systems, McLean, VA
NIKOLETTA SIDIROPOULOS (from June 2018), 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
KATHERINE JOHANSEN TABER, Director, Medical Communications, Counsyl, South San Francisco, CA
RYAN TAFT (until September 2018), Senior Director, Population and Medical Genomics, Illumina, Inc., San Diego, CA
JOYCE TUNG, Vice President, Research, 23andMe, Mountain View, CA
DAVID VEENSTRA (until June 2018), Professor, Pharmaceutical Outcomes Research and Policy Program, Department of Pharmacy, University of Washington, Seattle
JAMESON VOSS (from July 2018), Chief, Air Force Medical Service Precision Medicine, Air Force Medical Support Agency, Falls Church, VA
MICHAEL S. WATSON, Executive Director, American College of Medical Genetics and Genomics, Bethesda, MD
CATHERINE A. WICKLUND, Past President, National Society of Genetic Counselors; Director, Graduate Program in Genetic Counseling; and Associate Professor, Department of Obstetrics and Gynecology, Northwestern University, Evanston, IL
BENJAMIN WIEGAND (from September 2018), Global Head, World Without Disease Accelerator, Janssen Research & Development, LLC, Raritan, NJ
HUNTINGTON F. WILLARD, Director, Geisinger National Precision Health, Rockville, MD
JANET K. WILLIAMS, American Academy of Nursing, and Professor of Nursing, Chair of Behavioral and Social Science, College of Nursing, University of Iowa, Iowa City
Roundtable on Genomics and Precision Health Staff
SARAH H. BEACHY, Senior Program Officer and Roundtable Director
SIOBHAN ADDIE, Program Officer
MEREDITH HACKMANN, Research Associate
REBECCA RAY, Senior Program Assistant
Board on Health Sciences Policy Staff
STEPHANIE YOUNG, Program Coordinator (until August 2018)
MARIAM SHELTON, Program Coordinator (from September 2018)
ANDREW M. POPE, 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:
CARLA EASTER, National Human Genome Research Institute
CHARITE RICKER, Keck School of Medicine, University of Southern California
CONSUELO WILKINS, Vanderbilt University Medical Center
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 LINDA DEGUTIS. She 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 the workshop on Understanding Disparities in Access to Genomic Medicine. Federal sponsors are Air Force Medical Service; Department of Veterans Affairs; Health Resources and Services Administration; and National Institutes of Health’s 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; Accenture; 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; Counsyl; Eisai Inc.; Geisinger; Genosity; Illumina, Inc.; Janssen Research & Development, LLC; Kaiser Permanente; Marc Grodman; Merck & Co., Inc.; National Society of Genetic Counselors; Northrop Grumman Health IT; Pfizer Inc.; Regeneron Pharmaceuticals, and The University of Vermont Medical Center and The University of Vermont Health Network Medical Group.
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 the expert speakers who explored the impact of and possible solutions for lessening health care disparities in genomic medicine. The project director would like to thank the project staff who worked diligently to develop both the workshop and the resulting
proceedings and to recognize Meredith Hackmann and interns Katherine Donohue and Kristen Young from Northwestern University for working closely with the rapporteurs of these proceedings.
Contents
Organization of the Workshop and Proceedings
Setting the Stage: An Introduction to Genomic Medicine and Disparities
2 EXPLORING THE BARRIERS TO ACCESSING GENOMIC AND GENETIC SERVICES
Family Secrets Kill Families: A Personal Story About Genetic Testing and Communication
Examining Potential Drivers of Health Care Disparities
Patient-Reported Barriers to Genomic Testing
Challenges Facing Rural Communities
Reaction and Commentary: The Value of a Patient-Centered Health Care System
3 THE ROLE OF HEALTH SYSTEMS IN DELIVERING EQUITABLE ACCESS
Veterans Health Administration Genomic Care
Providing Genomic Medicine in a Resource-Constrained System
A Population Health Approach to Cancer Genetic Risk Assessment and Health Disparities
4 HOW CAN PROVIDERS AND PAYERS MAKE GENOMIC MEDICINE MORE ACCESSIBLE?
Finding Ways for Genomic Medicine to Reduce Existing Health Care Disparities
Disparities in Access to Precision Medicine: A View from Psychiatry
Ensuring That Genomic Medicine Is Provided Equitably
The Role of Large Employers in Addressing Disparities and Improving Access to Care
5 EXPLORING INNOVATIVE SOLUTIONS AND MODELS OF SUCCESS
Alternative Models of Clinical Service Delivery and the Impact of Disparities in BRCA Testing
Access and Communication: The Bridge Connecting Genetic Discoveries with Minority Patients
Recruiting Minority Populations in Genomic Studies Through Community-Based Outreach
Indiana Genomics Implementation Opportunity for the Underserved
6 CONSIDERING UNMET NEEDS TO ALLEVIATE DISPARITIES IN GENOMIC MEDICINE
Overcoming Challenges to Increase Access to Genetics and Genomics
Possible Ways to Improve Diversity and Reduce Health Care Disparities in Genomic Medicine
A SUMMARY OF THE PRE-WORKSHOP TWITTER CHAT
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Acronyms and Abbreviations
| CED | coverage with evidence development |
| CGRA | cancer genetic risk assessment |
| CSER | Clinical Sequencing Evidence-Generating Research |
| DIGITiZE | Displaying and Integrating Genetic Information Through the Electronic Health Record |
| EHR | electronic health record |
| EWC | Every Woman Counts program |
| FDA | U.S. Food and Drug Administration |
| FORCE | Facing Our Risk of Cancer Empowered |
| FQHC | federally qualified health center |
| HBOC | hereditary breast and ovarian cancer |
| HML | health ministry leader |
| HRSA | Health Resources and Services Administration |
| InGenIOUS | Indiana Genomics Implementation Opportunity for the Underserved |
| IVF | in vitro fertilization |
| MGH | Massachusetts General Hospital |
| NAACP | National Association for the Advancement of Colored People |
| NHGRI | National Human Genome Research Institute |
| OMB | U.S. Office of Management and Budget |
| PAF | Patient Advocate Foundation |
| PRIME | Precision Medicine in Mental Health Care |
| SNP | single nucleotide polymorphism |
| USPSTF | U.S. Preventive Services Task Force |
| VHA | Veterans Health Administration |
