Realizing the Potential
of Genomics across the
Continuum of Precision
Health Care

Theresa M. Wizemann,
Kathryn Asalone,
Meredith Hackmann, and
Sarah Beachy, Rapporteurs

Roundtable on Genomics
and Precision Health

Board on Health Sciences Policy

National Cancer Policy Forum

Board on Health Care Services

Health and Medicine Division

Proceedings of a Workshop

NATIONAL ACADEMIES PRESS 500 Fifth Street, NW Washington, DC 20001

This activity was supported by contracts between the National Academy of Sciences and Air Force Medical Service (Contract No. FA8052-17-P-0007); Centers for Disease Control and Prevention (Contract No. 75D30121D11240, Task Order No. 75D30121F00002); Health Resources and Services Administration (Contract No. HHSH250201500001I, Task Order No. 75R60220F34021); National Institutes of Health (Contract No. HHSN263201800029I, Task Order Nos. HHSN26300010 and HHSN26300008): All of Us Research Program, National Cancer Institute, National Human Genome Research Institute, National Institute of Mental Health, National Institute of Nursing Research, and National Institute on Aging; 23andMe, Inc.; American Academy of Nursing; American Association for Cancer Research; American Cancer Society; American College of Medical Genetics and Genomics; American College of Radiology; American Medical Association; American Society of Clinical Oncology; American Society of Human Genetics; Association for Molecular Pathology; Association of American Cancer Institutes; Association of Community Cancer Centers; Biogen; Blue Cross and Blue Shield Association; Bristol Myers Squibb; Cancer Support Community; College of American Pathologists; Eisai Inc.; Flatiron Health; Geisinger; Genome Medical, Inc.; Helix; Illumina, Inc.; The Jackson Laboratory (JAX); Kaiser Foundation Health Plan, Inc.; Merck & Co., Inc.; Myriad Genetics; National Comprehensive Cancer Network; National Patient Advocate Foundation; National Society of Genetic Counselors; Novartis Oncology; Oncology Nursing Society; Partners in Health; Pfizer, Inc.; Regeneron; Sanofi; Society for Immunotherapy of Cancer; The University of Vermont Health Network Medical Group; University of California, San Francisco; 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: 978-0-309-70115-0
International Standard Book Number-10: 0-309-70115-5
Digital Object Identifier: https://doi.org/10.17226/26917

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Suggested citation: National Academies of Sciences, Engineering, and Medicine. 2023. Realizing the potential of genomics across the continuum of precision health care: Proceedings of a workshop. Washington, DC: The National Academies Press. https://doi.org/10.17226/26917.

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PLANNING COMMITTEE ON REALIZING THE POTENTIAL OF GENOMICS ACROSS THE CONTINUUM OF PRECISION HEALTH CARE¹

MIRA IRONS (Cochair), President and CEO, College of Physicians of Philadelphia

CHRISTA LESE MARTIN (Cochair), Chief Scientific Officer and Director, Autism and Developmental Medicine Institute, Geisinger

GWEN DARIEN, Executive Vice President for Patient Advocacy and Engagement, National Patient Advocate Foundation

W. GREGORY FEERO, Professor, Department of Community and Family Medicine, Geisel School of Medicine, Maine Dartmouth Family Medicine Residency Program, representing JAMA

ALISHA KEEHN, Branch Chief, Genetic Services Branch, Division of Services for Children with Special Health Needs, Maternal and Child Health Bureau, Health Resources and Services Administration

GABRIEL LÁZARO-MUÑOZ, Assistant Professor of Psychiatry, Harvard Medical School

OLUFUNMILAYO I. OLOPADE, Walter L. Palmer Distinguished Service, Professor of Medicine, University of Chicago

VICTORIA M. PRATT, Vice President, Molecular Diagnostics Quality Assessments, Optum Genomics, representing Association for Molecular Pathology

LAWRENCE M. SIMON, Medical Director for Utilization Management and Coding and Reimbursement, Blue Cross and Blue Shield of Louisiana

SARAH WORDSWORTH, Professor and University Lecturer, Health Economics Research Centre, Nuffield Department of Population Health, University of Oxford

Roundtable on Genomics and Precision Health Staff

SARAH BEACHY, Senior Program Officer and Roundtable Director

KATHRYN ASALONE, Associate Program Officer

MEREDITH HACKMANN, Associate Program Officer

LYDIA TEFERRA, Research Associate

APARNA CHERAN, Senior Program Assistant (from June 2022)

___________________

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.

Board on Health Sciences Policy Staff

CLARE STROUD, Senior Board Director (from July 2022)

ANDREW M. POPE, Senior Board Director (until July 2022)

Board on Health Care Services Staff

SHARYL NASS, Senior Board Director and National Cancer Policy Forum Codirector

ERIN BALOGH, Senior Program Officer and National Cancer Policy Forum Codirector

ROUNDTABLE ON GENOMICS AND PRECISION HEALTH¹

W. GREGORY FEERO, Professor, Department of Community and Family Medicine, Geisel School of Medicine, Maine Dartmouth Family Medicine Residency Program, representing JAMA

MICHELLE PENNY, Executive Vice President, Research and Development, Embark Inc.

NAOMI ARONSON, Executive Director, Clinical Effectiveness and Policy, BlueCross BlueShield Association

ARIS BARAS, Senior Vice President, Regeneron Pharmaceuticals, General Manager, Regeneron Genetics Center

VENCE BONHAM JR., Acting Deputy Director, National Human Genome Research Institute

BERNICE COLEMAN, Director, Nursing Research Department, Performance Improvement Department, Nurse Practitioner, Heart Transplantation and Mechanical Circulatory Support Programs

ROBERT B. DARNELL, Heilbrunn Professor and Senior Physician Head, Laboratory of Molecular Neuro-Oncology, The Rockefeller University, Investigator, Howard Hughes Medical Institute, Founding Director and CEO Emeritus, New York Genome Center

GEOFFREY GINSBURG, Chief Medical and Science Officer, All of Us Research Program, National Institutes of Health, representing Global Genomic Medicine Consortium

JENNIFER GOLDSACK, Executive Director, Digital Medicine Society

JILL HAGENKORD, Chief Medical Officer, Optum Genomics

CASSIE HAJEK, Medical Director, Helix

RICHARD J. HODES, Director, National Institute on Aging, National Institutes of Health

GEOFF HOLLETT, Senior Science Policy Analyst, American Medical Association

MIRA IRONS, President and CEO, College of Physicians of Philadelphia

PRADUMAN JAIN, Chief Executive Officer, Vibrent Health

SEKAR KATHIRESAN, Director, Center for Genomic Medicine, Massachusetts General Hospital; Chief Executive Officer and Founder, Verve Therapeutics

ALISHA KEEHN, Branch Chief, Genetic Services Branch, Division of Services for Children with Special Health Needs, Maternal and Child Health Bureau, Health Resources and Services Administration (from January 2022)

___________________

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.

MUIN KHOURY, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention

CHARLES LEE, Scientific Director and Professor, The Jackson Laboratory for Genomic Medicine

CHRISTA LESE MARTIN, Chief Scientific Officer, Director, Autism and Developmental Medicine Institute, Geisinger

MONA MILLER, Chief Executive Officer, American Society of Human Genetics

ADELE MITCHELL, Head of Clinical Genetics, Biogen

JENNIFER MOSER, Genomic Medicine Program, Office of Research and Development, U.S. Department of Veterans Affairs

MAXIMILIAN MUENKE, Chief Executive Officer, American College of Medical Genetics and Genomics

KENNETH OFFIT, Chief of Clinical Genetics Service, Robert and Kate Neihaus Chair in Inherited Cancer Genomics, and Vice Chair of Academic Affairs, Department of Medicine, Memorial Sloan Kettering Cancer Center; representing American Society of Clinical Oncology

KATHRYN PHILLIPS, Professor of Health and Economics and Health Services Research and Founding Director, Center for Translational and Policy Research on Precision Medicine, University of California, San Francisco

VICTORIA PRATT, Vice President, Molecular Diagnostics Quality Assessments, Optum Genomics, representing Association for Molecular Pathology

MURRAY ROSS, Vice President, Kaiser Foundation Health Plan, Inc.

WENDY RUBINSTEIN, Director, Personalized Medicine, Food and Drug Administration

NADEEM SARWAR, President, Eisai AiM Institute

SHERI SCHULLY, Deputy Chief Medical and Scientific Officer, All of Us Research Program, National Institutes of Health

JOAN SCOTT, Director, Division of Services for Children with Special Health Needs, Maternal and Child Health Bureau, Health Resources and Services Administration (until January 2022)

GEETHA SENTHIL, Program Officer, National Institute of Mental Health, National Institutes of Health

NONNIEKAYE SHELBURNE, Program Director, Clinical and Translational Epidemiology Branch, National Cancer Institute

NIKOLETTA SIDIROPOULOS, Medical Director of Genomic Medicine, Associate Professor of Pathology and Laboratory Medicine, University of Vermont Health Network, Larner College of Medicine at the University of Vermont

KATHERINE JOHANSEN TABER, Vice President, Clinical Product Research and Partnerships, Myriad Genetics

RYAN TAFT, Vice President, Scientific Research, Illumina

JACQUELYN TAYLOR, Professor of Nursing, Director, Center for Research on People of Color, Columbia University School of Nursing

SHARON TERRY, President and CEO, Genetic Alliance

JOYCE TUNG, Vice President, Research, 23andMe

JAMESON D. VOSS, Major, USAF, MC, FS, Chief, AFMS Precision Medicine, Air Force Medical Support Agency

KAREN WECK, Professor of Pathology and Laboratory Medicine, Professor of Clinical Genetics, University of North Carolina at Chapel Hill, representing the College of American Pathologists

CATHERINE A. WICKLUND, Director, Graduate Program in Genetic Counseling, Past President, National Society of Genetic Counselors, Associate Professor, Department of Obstetrics and Gynecology, Feinberg School of Medicine, Center for Genetic Medicine, Northwestern University

HUNTINGTON F. WILLARD, Chief Scientific Officer, Genome Medical, Inc.

SARAH WORDSWORTH, Professor and University Lecturer, Health Economics Research Centre, Nuffield Department of Population Health, University of Oxford

SHANNON ZENK, Director, National Institutes of Nursing Research

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NATIONAL CANCER POLICY FORUM

ROBERT A. WINN (Chair), Virginia Commonwealth University

PETER C. ADAMSON, Sanofi

JUSTIN E. BEKELMAN, University of Pennsylvania

SMITA BHATIA, The University of Alabama at Birmingham

CHRIS BOSHOFF, Pfizer Inc.

OTIS W. BRAWLEY, Johns Hopkins University

ROBERT W. CARLSON, National Comprehensive Cancer Network

CHRISTINA CHAPMAN, Baylor College of Medicine and Michael E. DeBakey VA Medical Center

GWEN DARIEN, National Patient Advocate Foundation

JAMES H. DOROSHOW, National Cancer Institute

SCOT W. EBBINGHAUS, Merck Research Laboratories

S. GAIL ECKHARDT, The University of Texas at Austin

CHRISTOPHER R. FRIESE, University of Michigan

STANTON L. GERSON, Case Western Reserve University

SCARLETT LIN GOMEZ, University of California, San Francisco

JULIE R. GRALOW, American Society of Clinical Oncology

ROY S. HERBST, Yale School of Medicine

HEDVIG HRICAK, Memorial Sloan Kettering Cancer Center

CHANITA HUGHES-HALBERT, University of Southern California

ROY A. JENSEN, University of Kansas and Association of American Cancer Institutes

RANDY A. JONES, University of Virginia

BETH Y. KARLAN, University of California, Los Angeles

SAMIR N. KHLEIF, Georgetown University and Society for Immunotherapy of Cancer

SCOTT M. LIPPMAN, University of California, San Diego

ELENA MARTINEZ, University of California, San Diego

LARISSA NEKHLYUDOV, Brigham and Women’s Hospital, Dana-Farber Cancer Institute, and Harvard Medical School

RANDALL A. OYER, University of Pennsylvania, Penn Medicine Lancaster General Health, and Association of Community Cancer Centers

LISA C. RICHARDSON, Centers for Disease Control and Prevention

CLEO A. RYALS, Flatiron Health

RICHARD L. SCHILSKY, ASCO TAPUR Study and University of Chicago

JULIE SCHNEIDER, Food and Drug Administration

SUSAN M. SCHNEIDER, Duke University

LAWRENCE N. SHULMAN, University of Pennsylvania

HEIDI SMITH, Novartis Pharmaceuticals

ROBIN YABROFF, American Cancer Society

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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:

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 DANIEL R. MASYS, M.D., University of Washington. 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. We also thank staff member Daniel Talmage for reading and providing helpful comments on this manuscript.

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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, Realizing the Potential of Genomics across the Continuum of Precision Health Care. Federal sponsors for the workshop were the U.S. Air Force Medical Service, the Health Resources and Services Administration, and the following National Institutes of Health: the National Cancer Institute, the National Human Genome Research Institute, the National Institute on Aging, the National Institute of Mental Health, and the National Institute of Nursing Research, as well as the National Institutes of Health’s All of Us Research Program. Nonfederal sponsorship was provided by 23andMe; American Academy of Nursing; American College of Medical Genetics and Genomics; American Medical Association; American Society of Clinical Oncology; Association for Molecular Pathology; Biogen; Blue Cross and Blue Shield Association; College of American Pathologists; Eisai, Inc.; Geisinger; Genome Medical, Inc.; Helix; Illumina, Inc.; The Jackson Laboratory; Kaiser Foundation Health Plan, Inc.; Myriad Genetics; National Society of Genetic Counselors; Regeneron Pharmaceuticals; University of Vermont Health Network Medical Group; University of California, San Francisco; and Vibrent Health.

Support from the many annual sponsors of the National Academies of Sciences, Engineering, and Medicine’s National Cancer Policy Forum is crucial to the work of the forum. Federal sponsors include the Centers for Disease Control and Prevention and the National Cancer Institute/National Institutes of Health. Nonfederal sponsors include the American Association for Cancer Research, American Cancer Society, American College of Radiology,

American Society of Clinical Oncology, Association of American Cancer Institutes, Association of Community Cancer Centers, Bristol Myers Squibb, Cancer Support Community, Flatiron Health, Merck & Co., Inc., National Comprehensive Cancer Network, National Patient Advocate Foundation, Novartis Oncology, Oncology Nursing Society, Partners in Health, Pfizer Inc., Sanofi, and Society for Immunotherapy of Cancer.

The Roundtable on Genomics and Precision Health is grateful for the opportunity to collaborate with the National Cancer Policy Forum on this workshop. 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 barriers and opportunities for improving adoption of genomics in clinical care. The project director would like to thank the project staff who worked diligently to develop both the workshop and the resulting proceedings.

Contents

BOXES AND FIGURE

ACRONYMS AND ABBREVIATIONS

1 INTRODUCTION

Organization of the Proceedings

2 IMPROVING HEALTH THROUGH GENOMICS

A Vision for Genomics in Health Care

Progress Toward the Goal of Better Care Through Genomics

Genomic Medicine: Past, Present, and Future

Discussion

3 ENABLING PATIENTS TO BENEFIT FROM GENOMICS

Equitable Precision Medicine

Diagnosing Rare Diseases

The Care Navigation Maze

Discussion

4 BUILDING AN EQUITABLE PRECISION HEALTH CARE SYSTEM

Addressing the Needs and Concerns of Diverse Communities

Case Example: Reducing Bias by Implementing Panel-Based Preemptive Pharmacogenetic Testing for Everyone

Discussion

5 EXPLORING LOGISTICAL BARRIERS TO GENETIC TESTING

The Effect of Coding and Reimbursement on Access

Adding Genomics to the Primary Care Toolbox

Medicare Coverage Decisions Related to Genomic Testing

Discussion

6 SYSTEM-LEVEL CHALLENGES AND OPPORTUNITIES

Promoting Patient Engagement in Genomics

Genomics in Family Medicine Practice

Issues for the Laboratory

The Complex Implications of Genetic Testing

Discussion

7 THE FUTURE OF GENOMICS IN PRECISION HEALTH CARE

Achieving Widespread Adoption of Genomics in Clinical Care

Genomics at Providence: A Vision for the Future

Workshop Reflections

REFERENCES

APPENDIXES

A WORKSHOP AGENDA

B SPEAKER BIOGRAPHIES

Boxes and Figure

BOXES

1-1 Statement of Task

7-1 Perspectives on the Future of Genomics

7-2 Workshop Reflections as Presented by Christa Martin

FIGURE

5-1 Coordinated stepwise approach for integrating genomics in primary care

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Acronyms and Abbreviations