THE VALUE OF GENETIC AND GENOMIC TECHNOLOGIES
WORKSHOP SUMMARY
Theresa Wizemann and Adam C. Berger, Rapporteurs
INSTITUTE OF MEDICINE
OF THE ACADEMIES PRESS
THE NATIONAL ACADEMIES PRESS
Washington, D.C.
www.nap.edu
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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 the American College of Medical Genetics (unnumbered contract); American Medical Association (unnumbered contract); American Nurses Association (unnumbered contract); Blue Cross and Blue Shield Association (unnumbered contract); Centers for Disease Control and Prevention (Contract No. 200-2005-13434); College of American Pathologists (unnumbered contract); Department of Veterans Affairs (Contract No. V101(93) P-2238); Eli Lilly and Company (Contract No. LRL-0028-07); Genetic Alliance (unnumbered contract); Genomic Health, Inc. (unnumbered contract); Health Resources and Services Administration; 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); and the 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 organizations or agencies that provided support for the project.
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Suggested citation: IOM (Institute of Medicine). 2010. The value of genetic and genomic technologies: Workshop summary. Washington, DC: The National Academies Press.
THE NATIONAL ACADEMIES
Advisers to the Nation on Science, Engineering, and Medicine
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PLANNING COMMITTEE*
BRUCE BLUMBERG, Co-Chief of Medical Genetics, Kaiser Permanente, and Institutional Director of Graduate Medical Education,
Northern California Kaiser Permanente, The Permanente Medical Group, Oakland, CA
DENISE E. BONDS, Medical Officer,
Division of Prevention and Population Sciences, National Heart, Lung, and Blood Institute, Bethesda, MD
RALPH J. COATES, Associate Director for Science,
Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA
SHARON KARDIA, Professor and Chair of Epidemiology; Director,
Public Health Genetics Program;
Director,
Life Science and Society Program;
Co-Director,
Center for Genomics & Public Health, University of Michigan School of Public Health, Ann Arbor
MUIN KHOURY, Director,
National Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA
MICHELE LLOYD-PURYEAR, Chief,
Genetic Services Branch, Health Resources and Services Administration, Rockville, MD
CATHERINE A. WICKLUND, Past President,
National Society of Genetic Counselors;
Director,
Graduate Program in Genetic Counseling;
Assistant Professor,
Department of Obstetrics and Gynecology, Northwestern University, Chicago, IL
MARC S. WILLIAMS, Director,
Clinical Genetics Institute, Intermountain Health Care, Inc., Salt Lake City, UT
IOM Staff
ADAM C. BERGER, Project Director
ERIN HAMMERS, Research Associate
ALEX REPACE, Senior Project Assistant
ROUNDTABLE ON TRANSLATING GENOMIC-BASED RESEARCH FOR HEALTH*
WYLIE BURKE (Chair), Professor and Chair,
Department of Bioethics and Humanities, University of Washington, Seattle
BRUCE BLUMBERG, Co-Chief of Medical Genetics, Kaiser Permanente, and Institutional Director of Graduate Medical Education,
Northern California Kaiser Permanente, The Permanente Medical Group, Oakland, CA
DENISE E. BONDS, Medical Officer,
Division of Prevention and Population Sciences, National Heart, Lung, and Blood Institute, Bethesda, MD
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
STEPHEN ECK, Vice President,
Translational Medicine & Pharmacogenomics, Eli Lilly and Company, Indianapolis, IN
ANDREW N. FREEDMAN, Branch Chief,
Clinical and Translational Epidemiology Branch, Epidemiology and Genetics 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
SHARON KARDIA, Professor and Chair of Epidemiology; Director,
Public Health Genetics Program;
Director,
Life Science and Society Program;
Co-Director,
Center for Genomics & Public Health, University of Michigan School of Public Health, Ann Arbor
MOHAMED KHAN,
American Medical Association;
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 and Blue Shield Association, Chicago, IL
DEBRA LEONARD,
College of American Pathologists;
Professor and Vice Chair for Laboratory Medicine, Director of the Clinical Laboratories,
Weill Cornell Medical Center of Cornell University, New York, NY
MICHELE LLOYD-PURYEAR, Chief,
Genetic Services Branch, Health Resources and Services Administration, Rockville, MD
ELIZABETH MANSFIELD, Director of Personalized Medicine,
Food and Drug Administration, Silver Spring, 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, Department of Medicine and Institute of Human Genetics, University of California–San Francisco School of Medicine
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
LAURA LYMAN RODRIGUEZ, Senior Advisor 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
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, Chair,
Secretary’s Advisory Committee on Genetics, Health and Society;
Chief Science Officer,
Los Angeles County Department of Public Health, Los Angeles, CA
MARTHA TURNER, Assistant Director,
American Nurses Association Center for Ethics and Human Rights, Silver Spring, MD
MICHAEL S. WATSON, Executive Director,
American College of Medical Genetics, Bethesda, MD
CATHERINE A. WICKLUND, Past President,
National Society of Genetic Counselors;
Director,
Graduate Program in Genetic Counseling;
Assistant Professor,
Department of Obstetrics and Gynecology, Northwestern University, Chicago, IL
IOM Staff
ADAM C. BERGER, Project Director
ERIN HAMMERS, Research Associate
ALEX REPACE, Senior Project Assistant
ANDREWPOPE, Director,
Board on Health Sciences Policy
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:
Felix W. Frueh, Vice President, R&D Personalized Medicine Medco Health Solutions Inc, Bethesda, MD
J. Jay Gargus, Professor of Pediatrics, Human Genetics Division & Metabolism, Professor of Physiology & Biophysics, University of California, Irvine
Eric J. Topol, Director, Scripps Translational Science Institute, The Gary and Mary West Chair of Innovative Medicine; Chief Academic Officer, Scripps Health, La Jolla, CA
Marc S. Williams, Director, Clinical Genetics Institute, Intermountain Health Care, Inc., Salt Lake City, UT
Although the reviewers listed above have provided many constructive comments and suggestions, they did not endorse the final draft of the
report before its release. The review of this report was overseen by Elena O. Nightingale, Scholar-In-Residence, Institute of Medicine, Washington, DC. Appointed by the Institute of Medicine, she 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 authors and the institution.
Acknowledgments
The support of the sponsors of the Institute of Medicine Roundtable on Translating Genomic-Based Research for Health was crucial to the planning and conduct of the workshop, The Value of Genetic and Genomic Technologies. Federal sponsors are the Centers for Disease Control and Prevention; Health Resources and Services Administration; National Cancer Institute; National Heart, Lung, and Blood Institute; National Institute for Child Health and Human Development; 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 Medical Association, the American Nurses Association, Blue Cross and Blue Shield Association, the College of American Pathologists, Eli Lilly and Company, 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 the value that genomic and genetic technologies play in existing clinical practice. These speakers were Bruce Blumberg, Marc Boguski, Wylie Burke, Roy Gandolfi, Anna Garrett, Karen Kaplan, Arthur Lurvey, Don Lyman, Elizabeth Mansfield, Dennis Salisbury, Andrew Spiegel, Vance Vanier, David Veenstra, Catherine Wicklund, Janet Williams, Marc S. Williams, David Witt, and Steven Woolf.
The Roundtable also wishes to thank the members of the planning committee for their work in developing an excellent workshop agenda. Planning committee members were Bruce Blumberg, Denise Bonds, Ralph Coates, Sharon Kardia, Muin Khoury, Michele Lloyd-Puryear, Catherine Wicklund, and Marc S. Williams. Thanks also go to Marc S. Williams for moderating the entire workshop.
Abbreviations and Acronyms
ACMG American College of Medical Genetics
CLIA Clinical Laboratory Improvement Amendments
CMS Centers for Medicare and Medicaid Services
COAG Clarification of Optimal Anticoagulation Through Genetics
DRG diagnosis-related group
EGAPP Evaluation of Genomic Applications in Practice and Prevention
FDA U.S. Food and Drug Administration
FDAAA U.S. Food and Drug Administration Amendments Act
FISH Fluorescence In Situ Hybridization
GAPPNet Genomics Applications in Practice and Prevention Network
GINA Genetic Information Nondiscrimination Act of 2008
GWAS genome-wide association study
HMS Harvard Medical School
HNPCC hereditary non-polyposis colorectal cancer
IHC immunohistochemistry
INR International Normalized Ratio
IWPC International Warfarin Pharmacogenetics Consortium