DIFFUSION AND USE OF GENOMIC INNOVATIONS IN HEALTH AND MEDICINE

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Diffusion anD use of Genomic innovations in HealtH anD MeDicine workshop summary Lyla M. Hernandez, Rapporteur Roundtable on Translating Genomic-Based Research for Health Board on Health Sciences Policy

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THE NATIONAL ACADEMIES PRESS 500 Fifth Street, N.W. Washington, DC 20001 NOTICE: The project that is the subject of this report was approved by the Governing Board of the National Research Council, whose members are drawn from the councils of the National Academy of Sciences, the National Academy of Engineering, and the Institute of Medicine. The members of the committee responsible for the report were chosen for their special competences and with regard for appropriate balance. This project was supported by contracts between the National Academy of Sciences and American College of Medical Genetics (Unnumbered contract); American College of Physicians (Unnumbered contract); American Medical Association (Unnumbered contract); AstraZeneca Pharmaceuticals, Inc. (Unnumbered contract); Blue Cross/Shield Association (Unnumbered contract); Centers for Disease Control and Prevention (CDC) (Contract No. 200-2005-13434); College of American Pathologists (Unnumbered contract); Department of Veterans Affairs (VA) (Contract No. V101(93) P-2238); Eli Lilly and Company (Contract No. LRL-0028-07); Food & Drug Administration (Contract No. 223012460); Genetic Alliance (Unnumbered contract); Genomics Health, Inc. (Unnumbered contract); GlaxoSmithKline, Inc. (Unnumbered contract); Health Systems Research, Inc. (Contract No. 07-H0116); National Human Genome Research Institute (Contract No. N01-OD-4-2139, TO#189); National Institute of Child Health and Human Development (Contract No. N01-OD-4-2139, TO#189); National Society of Genetic Counselors (Unnumbered contract); Secretary’s Advisory Committee on Genetics, Health and Society (Contract No. N01-OD-4-2139, TO#189); and United Health Care (Unnumbered contract). Any opinions, findings, conclusions, or recommendations expressed in this publica- tion are those of the author(s) and do not necessarily reflect the views of the organizations or agencies that provided support for the project. International Standard Book Number-13: 978-0-309-11676-3 International Standard Book Number-10: 0-309-11676-7 Additional copies of this report are available from the National Academies Press, 500 Fifth Street, N.W., Lockbox 285, Washington, DC 20055; (800) 624-6242 or (202) 334-3313 (in the Washington metropolitan area); Internet, http://www.nap.edu. For more information about the Institute of Medicine, visit the IOM home page at: www. iom.edu. Copyright 2008 by the National Academy of Sciences. All rights reserved. Printed in the United States of America The serpent has been a symbol of long life, healing, and knowledge among almost all cultures and religions since the beginning of recorded history. The serpent adopted as a logotype by the Institute of Medicine is a relief carving from ancient Greece, now held by the Staatliche Museen in Berlin. Suggested citation: IOM (Institute of Medicine). 2008. Diffusion and use of genomic innovations in health and medicine: Workshop summary. Washington, DC: The National Academies Press.

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“Knowing is not enough; we must apply. Willing is not enough; we must do.” —Goethe Advising the Nation. Improving Health.

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The National Academy of Sciences is a private, nonprofit, self-perpetuating society of distinguished scholars engaged in scientific and engineering research, dedicated to the furtherance of science and technology and to their use for the general welfare. Upon the authority of the charter granted to it by the Congress in 1863, the Acad- emy has a mandate that requires it to advise the federal government on scientific and technical matters. Dr. Ralph J. Cicerone is president of the National Academy of Sciences. The National Academy of Engineering was established in 1964, under the charter of the National Academy of Sciences, as a parallel organization of outstanding engineers. It is autonomous in its administration and in the selection of its members, sharing with the National Academy of Sciences the responsibility for advising the federal government. The National Academy of Engineering also sponsors engineer- ing programs aimed at meeting national needs, encourages education and research, and recognizes the superior achievements of engineers. Dr. Charles M. Vest is presi- dent of the National Academy of Engineering. The Institute of Medicine was established in 1970 by the National Academy of Sciences to secure the services of eminent members of appropriate professions in the examination of policy matters pertaining to the health of the public. The Insti- tute acts under the responsibility given to the National Academy of Sciences by its congressional charter to be an adviser to the federal government and, upon its own initiative, to identify issues of medical care, research, and education. Dr. Harvey V. Fineberg is president of the Institute of Medicine. The National Research Council was organized by the National Academy of Sci- ences in 1916 to associate the broad community of science and technology with the Academy’s purposes of furthering knowledge and advising the federal government. Functioning in accordance with general policies determined by the Academy, the Council has become the principal operating agency of both the National Academy of Sciences and the National Academy of Engineering in providing services to the government, the public, and the scientific and engineering communities. The Council is administered jointly by both Academies and the Institute of Medicine. Dr. Ralph J. Cicerone and Dr. Charles M. Vest are chair and vice chair, respectively, of the National Research Council. www.national-academies.org

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PLANNING COMMITTEE ON DIFFUSION AND USE OF GENOMIC INNOVATIONS IN HEALTH AND MEDICINE* WyLIE BURkE, M.D., Ph.D. (Chair), Professor and Chair, Department of Medical History and Ethics, University of Washington, Seattle NAOMI ARONSON, Ph.D., Executive Director, Technology Evaluation Center, BlueCross/BlueShield Association, Chicago, Illinois MOHAMED kHAN, M.D., Ph.D., Associate Director of Translational Research, Department of Radiation Medicine, Roswell Park Cancer Institute, Buffalo, New York STEPHEN G. RyAN, M.D., Executive Director, Discovery Medicine and Epidemiology, AstraZeneca Pharmaceuticals, Wilmington, Delaware kEVIN SCHULMAN, M.D., Professor of Medicine and Business Administration, Director, Center for Clinical and Genetic Economics, Associate Director, Duke Clinical Research Institute, Duke University School of Medicine, Durham, North Carolina JANET WOODCOCk, M.D., Deputy Commissioner and Chief Medical Officer, Food & Drug Administration, Bethesda, Maryland *IOM planning committees are solely responsible for organizing the workshop, identifying topics, and choosing speakers. The responsibility for the published workshop summary rests with the workshop rapporteur and the institution. v

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ROUNDTABLE ON TRANSLATING GENOMIC-BASED RESEARCH FOR HEALTH* WyLIE BURkE, M.D., Ph.D. (Chair), Professor and Chair, Department of Medical History and Ethics, University of Washington, Seattle STEPHEN ECk, M.D., Ph.D., Vice President, Translational Medicine & Pharmacogenomics, Eli Lilly and Company, Indianapolis, Indiana FAITH T. FITzGERALD, M.D., Professor of Medicine, Assistant Dean of Humanities and Bioethics, University of California, Davis Health System, Sacramento GEOFFREy GINSBURG, M.D., Ph.D., Director, Center for Genomic Medicine, Institute for Genomic Sciences & Policy, Duke University, Durham, North Carolina ALAN E. GUTTMACHER, M.D., Deputy Director, National Human Genome Research Institute, National Institues of Health, Bethesda, Maryland R. RODNEy HOWELL, M.D., Special Assistant to the Director, National Institute of Child Health and Human Development, Bethesda, Maryland kATHy HUDSON, Ph.D., Director, Genetics and Public Policy Center, Berman Bioethics Institute, Johns Hopkins University, Washington, District of Columbia SHARON kARDIA, Ph.D., Director, Public Health Genetic Programs, Associate Professor, Department of Epidemiology, University of Michigan, School of Public Health, Ann Arbor MOHAMED kHAN, M.D., Ph.D., Associate Director of Translational Research, Department of Radiation Medicine, Roswell Park Cancer Institute, Buffalo, New York MUIN kHOURy, M.D., Ph.D., Director, National Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia ALLAN kORN, M.D., Chief Medical Officer, Senior Vice President Clinical Affairs, BlueCross/BlueShield Association, Chicago, Illinois DEBRA LEONARD, M.D., Ph.D., Professor and Vice Chair for Laboratory Medicine, Director of the Clinical Laboratories for New York-Presbyterian Hospital, Weill Cornell Medical Center of Cornell University, New York * IOM forums and roundtables do not issue, review, or approve individual documents. The responsibility for the published workshop summary rests with the workshop rapporteur and the institution. vi

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MICHELE LLOyD-PURyEAR, M.D., Ph.D., Chief, Genetic Services Branch, Health Resources and Services Administration, Rockville, Maryland ROBERT L. NUSSBAUM, M.D., Chief, Division of Medical Genetics, University of California, San Francisco, School of Medicine TIMOTHy O’LEARy, M.D., Ph.D., Director, Biomedical Laboratory Research and Development Service, Director, Clinical Science Research and Development Service, Department of Veterans Affairs, Washington, District of Columbia AMELIE G. RAMIREz, Dr.P.H., Dielmann Chair, Health Disparities and Community Outreach Research, Director, Institute for Health Promotion Research, University of Texas Health Science Center at San Antonio ALLEN D. ROSES, Ph.D., Jefferson-Pilot Professor of Neurobiology and Genetics, Professor of Medicine (Neurology), Director, Deane Drug Discovery Institute, Senior Scholar, Fuqua School of Business, R. David Thomas Executive Training Center, Duke University, Durham, North Carolina STEPHEN G. RyAN, M.D., Executive Director, Discovery Medicine and Epidemiology, AstraZeneca Pharmaceuticals, Wilmington, Delaware kEVIN SCHULMAN, M.D., Professor of Medicine and Business Administration, Director, Center for Clinical and Genetic Economics, Associate Director, Duke Clinical Research Institute, Duke University School of Medicine, Durham, North Carolina PATRICk TERRy, Director, Consumer Advocacy and Government Affairs, Genomic Health, Inc., Washington, District of Columbia SHARON TERRy, President and CEO, Genetic Alliance, Washington, District of Columbia STEVEN TEUTSCH, M.D., Ph.D., Executive Director, U.S. Outcomes Research, Merck & Co., Inc., West Point, Pennsylvania MICHAEL S. WATSON, Ph.D., Executive Director, American College of Medical Genetics, Bethesda, Maryland CATHERINE A. WICkLUND, M.S., CGC, President, National Society of Genetic Counselors, Associate Director, Graduate Program in Genetic Counseling, Assistant Professor, Department of Obstetrics and Gynecology, Northwestern University, Chicago, Illinois JANET WOODCOCk, M.D., Deputy Commissioner and Chief Medical Officer, Food & Drug Administration, Bethesda, Maryland vii

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IOM Staff LyLA M. HERNANDEz, M.P.H., Project Director ERIN HAMMERS, M.P.H., Research Associate ALEx REPACE, B.S., Senior Project Assistant IOM Anniversary Fellow LISA BARCELLOS, Ph.D., Assistant Professor, University of California, Berkeley viii

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BOARD ON HEALTH SCIENCES POLICy* FRED H. GAGE, Ph.D. (Chair), Vi and John Adler Professor, Laboratory of Genetics, The Salk Institute for Biological Studies, La Jolla, California C. THOMAS CASkEy, M.D., Director, Brown Foundation Institute of Molecular Medicine for the Prevention of Human Diseases, University of Texas, Houston Health Science Center GAIL H. CASSELL, Ph.D., Vice President, Scientific Affairs and Distinguished Lilly Research Scholar for Infectious Diseases, Eli Lilly and Company, Indianapolis, Indiana JAMES F. CHILDRESS, Ph.D., The John Allen Hollingsworth Professor of Ethics, Professor of Medical Education and Director, Institute for Practical Ethics, Department of Religious Studies, University of Virginia, Charlottesville ELLEN WRIGHT CLAyTON, J.D., M.D., Rosalind E. Franklin Professor of Genetics and Health Policy, Professor of Law, Director, Genetics and Health Policy Center, Vanderbilt University Medical School, Nashville, Tennessee LINDA C. GIUDICE, M.D., Ph.D., Professor and Chairman, Departments of Obstetrics, Gynecology and Reproductive Services, University of California, San Francisco LyNN R. GOLDMAN, M.D., Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland LAWRENCE O. GOSTIN, J.D., Associate Dean for Research and Academic Programs and Professor of Law, Director, Center on Law and the Public’s Health, Georgetown University Law Center, Washington, District of Columbia MARTHA N. HILL, Ph.D., Dean and Professor of Nursing, Johns Hopkins University School of Nursing, Baltimore, Maryland DAVID kORN, M.D., Senior Vice President for Biomedical and Health Sciences Research, Association of American Medical Colleges, Washington, District of Columbia ALAN LESHNER, Ph.D., CEO and Publisher of Science, American Association for the Advancement of Science, Washington, District of Columbia JONATHAN D. MORENO, Ph.D., David and Lyn Silfen University Professor, University of Pennsylvania, Philadelphia * IOM boards do not review or approve individual workshops and are not asked to endorse conclusions and recommendations. The responsibility for the content of the summary rests with the workshop rapporteur and the institution. ix

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E. ALBERT REECE, M.D., Ph.D., Vice President for Medical Affairs, Dean, School of Medicine, University of Maryland School of Medicine, Baltimore LINDA ROSENSTOCk, M.D., M.P.H., Dean, School of Public Health, University of California, Los Angeles MICHAEL J. WELCH, Ph.D., Professor of Radiology, Co-Director, Division of Radiological Sciences, Department of Radiology, Washington University School of Medicine, St. Louis, Missouri OWEN N. WITTE, M.D., Investigator, HHMI, President’s Chair in Developmental Immunology, David Geffen School of Medicine, University of California, Los Angeles IOM Staff ANDREW M. POPE, Ph.D., Director AMy HAAS, Board Assistant DONNA RANDALL, Financial Officer x

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Reviewers This report has been reviewed in draft form by individuals chosen for their diverse perspectives and technical expertise, in accordance with procedures approved by the National Research Council’s Report Review Committee. The purpose of this independent review is to provide candid and critical comments that will assist the institution in making its published report as sound as possible and to ensure that the report meets institutional standards for objectivity, evidence, and responsiveness to the study charge. The review comments and draft manuscript remain confidential to protect the integrity of the deliberative process. We wish to thank the following individuals for their review of this report: Geoffrey Ginsburg, M.D., Ph.D., Director, Institute for Genomic Sciences & Policy, Duke University, Durham, North Carolina David R. Nerenz, Ph.D., Director, Center for Health Services Research, Henry Ford Health System, Detroit, Michigan Bernard M. Rosof, M.D., Senior Vice President for Health Affairs, North Shore-Long Island Jewish Health, Great Neck, New York Sandra Suther, Ph.D., Assistant Professor, Behavioral Science & Health Education, Institute of Public Health, Florida A&M University, Tallahassee, Florida Although the reviewers listed above have provided many constructive comments and suggestions, they were not asked to endorse the final draft of the report before its release. The review of this report was overseen by xi

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xii REVIEWERS Bradford H. Gray, Ph.D., Editor, The Milbank Quarterly, Principal Research Associate, The Urban Institute. Appointed by the Institute of Medicine, he was responsible for making certain that an independent examination of this report was carried out in accordance with institutional procedures and that all review comments were carefully considered. Responsibility for the final content of this report rests entirely with the author and the institution.

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Contents 1 INTRODUCTION 1 2 TRANSLATION OF INNOVATIONS 3 A Broad Perspective, 3 Robert M. Califf, M.D., MACC Understanding Types of Innovation and Implications for Policy, 12 Kevin Schulman, M.D. Lessons for Genomics from Other Technologies, 16 Annetine Gelijns, Ph.D. Discussion, 21 Wylie Burke, M.D., Ph.D. 3 PRACTICAL INCENTIVES AND BARRIERS TO TRANSLATION 25 Translating Medical Innovations with Appropriate Evidence, 25 Sean Tunis, M.D., M.Sc. Assessing Technology for Use in Health and Medicine, 29 Naomi Aronson, Ph.D. Integrating Genetic Technology into a Health Care System, 33 Wylie Burke, M.D., Ph.D. View from the Trenches: Challenges and Opportunities in Personalized Medicine, 39 Brad Gray Discussion, 45 Wylie Burke, M.D., Ph.D. xiii

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xiv CONTENTS 4 TRANSLATION OF GENOMIC TECHNOLOGY AT THE CLINICAL LEVEL 47 A Primary-Care Provider View of Translating Genomic Innovation, 47 Alfred O. Berg, M.D., M.P.H. Introducing a Genomic Innovation to Clinical Practice, 51 Steven Shak, M.D. Discussion, 58 Wylie Burke, M.D., Ph.D. 5 OPPORTUNITIES AND CONSTRAINTS FOR TRANSLATION OF GENOMIC INNOVATIONS 65 The Global Perspective, 65 Stuart Hogarth Finding Value in Translation of Genomic-Based Research, 73 Deborah Marshall, Ph.D. Discussion, 79 Wylie Burke, M.D., Ph.D. 6 CONCLUDING REMARKS 81 General Observations, 81 Wylie Burke, M.D., Ph.D. REFERENCES 85 APPENDIXES A Workshop Agenda 89 B Biographical Sketches of the Workshop Speakers 93

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xv CONTENTS FIGURES 2-1 Translation of innovations, 4 2-2 Life expectancy at birth, 6 2-3 Policy response: A budget freeze, 13 3-1 Continuum of family history of colorectal cancer, 36 3-2 Personalized drugs available today, 40 4-1 NSABP B-20 clinical trial (1988-1997), 54 TABLES 5-1 Data for Cost of Illness of Pharmacogenomics, 74 5-2 Criteria for Cost-Effectiveness of Pharmacogenomics, 75

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