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Suggested Citation:"Front Matter." 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: 10.17226/25277.
×

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

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Suggested Citation:"Front Matter." 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: 10.17226/25277.
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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
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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.

Suggested Citation:"Front Matter." 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: 10.17226/25277.
×

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The National Academy of Sciences was established in 1863 by an Act of Congress, signed by President Lincoln, as a private, nongovernmental institution 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.

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Suggested Citation:"Front Matter." 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: 10.17226/25277.
×

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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 typically 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.

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Suggested Citation:"Front Matter." 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: 10.17226/25277.
×

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.

Suggested Citation:"Front Matter." 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: 10.17226/25277.
×

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

Suggested Citation:"Front Matter." 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: 10.17226/25277.
×

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.

Page viii Cite
Suggested Citation:"Front Matter." 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: 10.17226/25277.
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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

Suggested Citation:"Front Matter." 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: 10.17226/25277.
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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

Suggested Citation:"Front Matter." 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: 10.17226/25277.
×

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

Suggested Citation:"Front Matter." 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: 10.17226/25277.
×

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.

Suggested Citation:"Front Matter." 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: 10.17226/25277.
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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

Suggested Citation:"Front Matter." 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: 10.17226/25277.
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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.

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Suggested Citation:"Front Matter." 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: 10.17226/25277.
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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
Suggested Citation:"Front Matter." 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: 10.17226/25277.
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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
Suggested Citation:"Front Matter." 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: 10.17226/25277.
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Understanding Disparities in Access to Genomic Medicine: Proceedings of a Workshop Get This Book
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Genomic medicine is defined as the routine use of genomic information about an individual as part of his or her clinical care as well as the health outcomes and policy implications of that clinical use. It is one approach that has the potential to improve the quality of health care by allowing practitioners to tailor prevention, diagnostic, and treatment strategies to individual patients. In recent years, research breakthroughs, technological advances, and the decreasing cost of DNA sequencing have led to the wider adoption of genomic medicine. However, as with the introduction of new technologies into health care, there are concerns that genetic and genomic testing and services will not reach all segments of the population both now and in the near future, and there remains a gap in knowledge regarding potential health care disparities in genomic medicine and precision health approaches.

On June 27, 2018, the National Academies of Sciences, Engineering, and Medicine hosted a public workshop to examine the gaps in knowledge related to access to genomic medicine and to discuss health care disparities and possible approaches to overcoming the disparate use of genomic medicine among populations. Workshop participants discussed research on access to genetics and genomics services in medically underserved areas, model programs of care for diverse patient populations, and current challenges and possible best practices for alleviating health care disparities as they relate to genomics-based approaches. This publication summarizes the presentations and discussions from the workshop.

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