SYSTEMS FOR RESEARCH AND EVALUATION FOR TRANSLATING GENOME-BASED DISCOVERIES FOR HEALTH

WORKSHOP SUMMARY

Theresa Wizemann, Rapporteur

Roundtable on Translating Genomic-Based Research for Health

Board on Health Sciences Policy

INSTITUTE OF MEDICINE OF THE NATIONAL ACADEMIES

THE NATIONAL ACADEMIES PRESS

Washington, D.C.
www.nap.edu



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SyStemS for reSearch and evaluation for tranSlating Genome-Based discoveries for health Workshop summary Theresa Wizemann, 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. 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); American Nurses Association (unnumbered contract); AstraZeneca Pharmaceuticals, Inc. (unnumbered contract); BlueCross BlueShield Association (unnumbered contract); Centers for Disease Con- trol 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); Genetic Alliance (unnumbered contract); Genomic Health, Inc. (unnumbered contract); Human Resources and Services Administra- tion; Johnson & Johnson (unnumbered contract); Kaiser Permanente (unnumbered contract); National Cancer Institute (Contract No. N01-OD-4-2139, TO#189); National Heart, Lung, and Blood Institute (Contract No. N01-OD-4-2139, TO#189); 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); Pfizer Inc. (Contract No. 140-N-1818071); Secretary’s Advisory Committee on Genetics, Health and Society (Contract No. N01-OD-4- 2139, TO#189). Any opinions, findings, conclusions, or recommendations expressed in this publication are those of the author(s) and do not necessarily reflect the views of the organiza- tions or agencies that provided support for the project. International Standard Book Number-13: 978-0-309-13983-0 International Standard Book Number-10: 0-309-13983-X 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 2009 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). 2009. Systems for research and evaluation for translating genome-based discoveries for health: 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* NAOMI ARONSON, Executive Director, Technology Evaluation Center, Blue Cross Blue Shield Association, Chicago, IL GEOFFREy GINSbuRG, Director, Center for Genomic Medicine, Institute for Genomic Sciences & Policy, Duke University, Durham, NC R. RODNEy HOWELL, Special Assistant to the Director, National Institute of Child Health and Human Development, Bethesda, MD SHARON KARDIA, Director, Public Health Genetic Programs; Associate Professor, Department of Epidemiology, University of Michigan, School of Public Health, Ann Arbor, MI MuIN KHOuRy, Director, National Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA DEbRA LEONARD, 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, NY KEvIN A. SCHuLMAN, 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, NC SHARON TERRy, President and Chief Executive Officer, Genetic Alliance, Washington, DC MICHAEL S. WATSON, Executive Director, American College of Medical Genetics, Bethesda, MD * Institute of Medicine (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 (Chair), Professor and Chair, Department of Medical History and Ethics, University of Washington–Seattle, WA bRuCE bLuMbERG, Cochief of Medical Genetics, Kaiser Permanente, Oakland, CA C. THOMAS CASKEy, Director and Chief Executive Officer, The George & Cynthia Mitchell Distinguished Chair in Neurosciences, Executive Vice President of Molecular Medicine and Genetics, University of Texas Health Science Center at Houston, Houston, TX STEPHEN ECK, Vice President, Translational Medicine & Pharmacogenomics, Eli Lilly and Company, Indianapolis, IN FAITH T. FITzGERALD, Professor of Medicine, Assistant Dean of Humanities and Bioethics, University of California, Davis Health System, Sacramento, CA ANDREW N. FREEDMAN, Molecular Epidemiologist, Applied Research Program, Division of Cancer Control and Population Sciences, National Cancer Institute, Rockville, MD GEOFFREy GINSbuRG, Director, Center for Genomic Medicine, Institute for Genomic Sciences & Policy, Duke University, Durham, NC R. RODNEy HOWELL, Special Assistant to the Director, National Institute of Child Health and Human Development, Bethesda, MD KATHy HuDSON, Director, Genetics and Public Policy Center, Berman Bioethics Institute, Johns Hopkins University, Washington, DC SHARON KARDIA, Director, Public Health Genetic Programs; Associate Professor, Department of Epidemiology, University of Michigan, School of Public Health, Ann Arbor, MI MOHAMED KHAN, Associate Director of Translational Research, Department of Radiation Medicine, Roswell Park Cancer Institute, Buffalo, NY MuIN KHOuRy, Director, National Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA ALLAN KORN, Chief Medical Officer, Senior Vice President, Clinical Affairs, Blue Cross Blue Shield Association, Chicago, IL * 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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MICHAEL S. LAuER, Director, Division of Prevention and Population Sciences, National Heart, Lung, and Blood Institute, Bethesda, MD DEbRA LEONARD, 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, NY MICHELE LLOyD-PuRyEAR, Chief, Genetic Services Branch, Health Resources and Services Administration, Rockville, MD GARRy NEIL, Corporate Vice President, Corporate Office of Science and Technology, Johnson & Johnson, New Brunswick, NJ RObERT L. NuSSbAuM, Chief, Division of Medical Genetics, University of California–San Francisco, School of Medicine, San Francisco, CA KIMbERLy POPOvITS, President and Chief Executive Officer, Genomic Health, Inc., Redwood City, CA AIDAN POWER, Vice President and Global Head of Molecular Medicine, Pfizer, Inc., New London, CT RONALD PRzyGODzKI, Associate Director for Genomic Medicine, Biomedical Laboratory Research and Development, Department of Veterans Affairs, Washington, DC AMELIE G. RAMIREz, Dielmann Chair, Health Disparities and Community Outreach Research, Director; Institute for Health Promotion Research, University of Texas Health Science Center at San Antonio, San Antonio, TX LAuRA LyMAN RODRIGuEz, Senior Adviser to the Director for Research Policy, National Human Genome Research Institute, Bethesda, MD ALLEN D. ROSES, 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, NC STEPHEN G. RyAN, Executive Director, Discovery Medicine and Epidemiology, AstraZeneca Pharmaceuticals, Wilmington, DE KEvIN A. SCHuLMAN, 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, NC SHARON TERRy, President and Chief Executive Officer, Genetic Alliance, Washington, DC STEvEN TEuTSCH, Chief Science Officer, Los Angeles County Department of Public Health, CA vii

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MARTHA TuRNER, Assistant Director, Center for Ethics and Human Rights, American Nurses Association, Silver Spring, MD MICHAEL S. WATSON, Executive Director, American College of Medical Genetics, Bethesda, MD CATHERINE A. WICKLuND, Immediate Past President, National Society of Genetic Counselors; Associate Director, Graduate Program in Genetic Counseling; Assistant Professor, Department of Obstetrics and Gynecology, Northwestern University, Chicago, IL JANET WOODCOCK, Deputy Commissioner and Chief Medical Officer, Food and Drug Administration, Bethesda, MD IOM Staff LyLA M. HERNANDEz, Project Director ERIN HAMMERS, Research Associate ALEx REPACE, Senior Project Assistant SHARON b. MuRPHy, IOM Scholar-in-Residence viii

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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 process. We wish to thank the following individuals for their review of this report: bruce blumberg, Kaiser Permanente, Oakland, CA C. Thomas Caskey, Brown Foundation Institute of Molecular Medicine for the Prevention of Human Diseases, The University of Texas-Houston Health Science Center, Houston, TX Kenneth S. Kendler, Medical College of Virginia, Virginia Commonwealth University, Richmond, VA Julie Neidich, Biochemical Genetics Lab, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 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 ix

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x REVIEWERS Dennis W. Choi, Comprehensive Neuroscience Initiative, Emory University, Atlanta, GA. 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 com- ments were carefully considered. Responsibility for the final content of this report rests entirely with the author and the institution.

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Acknowledgments The support of the sponsors of the Institute of Medicine Roundtable on Translating Genomic-Based Research for Health were crucial to the plan- ning and conduct of the workshop, Systems for Research and Evaluation for Translating Genome-Based Discoveries for Health. Federal sponsors are Centers for Disease Control and Prevention; the Health Resources and Services Administration; the National Cancer Institute; the National Heart, Lung, and Blood Institute; the National Institute for Child Health and Human Development; the National Human Genome Research Institute; the Secretary’s Advisory Committee on Genetics, Health and Society; and the Department of Veterans Affairs. Non-federal sponsorship was provided by the American College of Medical Genetics, the American College of Physi- cians, the American Medical Association, the American Nurses Association, AstraZeneca, the Blue Cross Blue Shield Association, the College of Ameri- can Pathologists, Eli Lilly and Company, the Genetic Alliance, Genomic Health, Inc., Johnson & Johnson, Kaiser Permanente, the National Society of Genetic Counselors, and Pfizer Inc. The Roundtable wishes to express its gratitude to the expert speakers whose presentations examined existing systems that create the kinds of resources and structure that facilitate evaluation of genome-based health care. These speakers are Alfred O. Berg, Ralph G. Brindis, Wylie Burke, Robert L. Davis, Geoffrey Ginsburg, Sharon Kardia, Sumitra Muralidhar, James M. Perrin, Kathryn A. Phillips, Bruce Quinn, Sharon Terry, Steven Teutsch, and Marc S. Williams. The Roundtable also wishes to thank the members of the planning committee for their work in developing an excellent workshop agenda. xi

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xii ACKNOWLEDGMENTS Planning committee members are Naomi Aronson, Geoffrey Ginsburg, R. Rodney Howell, Sharon Kardia, Muin Khoury, Debra Leonard, Kevin A. Schulman, Sharon Terry, and Michael S. Watson. Thanks also go to Wylie Burke for moderating the entire workshop.

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Contents 1 INTRODUCTION 1 2 GENERATING EVIDENCE FOR DECISION MAKING 3 Does the Type of Decision Being Made Influence the Evidence Needed?, 3 Steven Teutsch, M.D., M.P.H. Discussion, 11 Wylie Burke, M.D., Ph.D., Moderator 3 CREATING EVIDENCE SYSTEMS 13 HMO Research Network, 13 Robert Davis, M.D., M.P.H. Veterans Health Administration, 17 Sumitra Muralidhar, Ph.D. Intermountain Healthcare, 21 Marc S. Williams, M.D., F.A.A.P., F.A.C.M.G. Discussion, 26 Wylie Burke, M.D., Ph.D., Moderator 4 CURRENT PRACTICES IN MOVING FROM EVIDENCE TO DECISION 33 Rare Disease Model, 33 James Perrin, M.D. Discussion, 37 Wylie Burke, M.D., Ph.D., Moderator xiii

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xiv CONTENTS Duke Guided Genomic Studies, 38 Geoffrey S. Ginsburg, M.D., Ph.D. National Cardiovascular Disease Registries, 43 Ralph Brindis, M.D., M.P.H., FACC, FSCAI Discussion, 48 Wylie Burke, M.D., Ph.D., Moderator 5 PANEL: WHERE ARE THE GAPS? 53 Bruce Quinn, M.D., Ph.D., M.B.A., 53 Alfred O. Berg, M.D., M.P.H., 56 Kathryn A. Phillips, Ph.D., 58 Discussion, 59 Wylie Burke, M.D., Ph.D., Moderator 6 CLOSING REMARKS 65 Sharon Terry, 65 Sharon Kardia, Ph.D., 66 Wylie Burke, M.D., Ph.D., 67 REFERENCES 69 APPENDIXES A WORKSHOP AGENDA 73 B SPEAKER BIOSKETCHES 77 FIGuRES 2-1 The translational process, 4 2-2 Dynamic relationship between evidence review and synthesis and evidence-based decision making, 5 2-3 Comparative clinical effectiveness matrix, 6 2-4 The ACCE method for multidisciplinary evaluation of genetic tests, 8 2-5 Example of a hypothetical decision-factor matrix, 11 3-1 Integration of the components of the GenISIS system, 20 4-1 The translational continuum for biomarkers, 38 4-2 An integrated strategy for genomic medicine from bench to bedside, 43 4-3 The cycle of clinical effectiveness, 44

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xv CONTENTS TAbLES 2-1 Categories of Genetic Test Applications and Some Characteristics of How Clinical Validity and Utility Are Assessed, 8 2-2 Hierarchies of Data Sources and Study Designs for the Components of Evaluation, 9

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