INTEGRATING LARGE-SCALE GENOMIC INFORMATION INTO CLINICAL PRACTICE
WORKSHOP SUMMARY
Steve Olson, Sarah H. Beachy, Claire F. Giammaria, and Adam C. Berger, Rapporteurs
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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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. 200-2011-38807); College of American Pathologists (unnumbered contract); Department of the Air Force (Contract No. FA7014-10-P-0072); Department of Veterans Affairs (Contract No. V101(93) P-2238); Eli Lilly and Company (Contract No. LRL-0028-07); Genetic Alliance (unnumbered contract); Health Resources and Services Administration (Contract No. HHSH250201100119P); 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 and 264); National Society of Genetic Counselors (unnumbered contract); and Pfizer Inc. (Contract No. 140-N-1818071). Any opinions, findings, conclusions, or recommendations expressed in this publication are those of the authors and do not necessarily reflect the views of the organizations or agencies that provided support for the project.
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Copyright 2012 by the National Academy of Sciences. All rights reserved.
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Suggested citation: IOM (Institute of Medicine). 2012. Integrating Large-Scale Genomic Information into Clinical Practice: Workshop Summary. Washington, DC: The National Academies Press.
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Willing is not enough; we must do.”
—Goethe
INSTITUTE OF MEDICINE
OF THE NATIONAL ACADEMIES
Advising the Nation. Improving Health.
THE NATIONAL ACADEMIES
Advisers to the Nation on Science, Engineering, and Medicine
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 Academy 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.
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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 Institute 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 Sciences 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 Vest are chair and vice chair, respectively, of the National Research Council.
PLANNING COMMITTEE1
BRUCE BLUMBERG (Cochair), Institutional Director of Graduate Medical Education, Northern California Kaiser Permanente, The Permanente Medical Group, Oakland, CA
CATHERINE A. WICKLUND (Cochair), Past President, National Society of Genetic Counselors; Director, Graduate Program in Genetic Counseling; Associate Professor, Department of Obstetrics and Gynecology, Northwestern University, Chicago, IL
PAUL R. BILLINGS, Chief Medical Officer, Life Technologies Corporation, Carlsbad, CA
DENISE E. BONDS, Medical Officer, Division of Prevention and Population Sciences, National Heart, Lung, and Blood Institute, Bethesda, MD
W. GREGORY FEERO, Special Advisor to the Director for Genomic Medicine, National Human Genome Research Institute, Bethesda, MD
KATHERINE JOHANSEN-TABER, Senior Scientist, American Medical Association, Chicago, IL
SHARON KARDIA, Professor and Chair of Epidemiology; Director, Public Health Genetics Program; Director, Life Science and Society Program; Codirector, Center for Public Health and Community Genomics, University of Michigan School of Public Health, Ann Arbor
MOHAMED KHAN, Leader of Radiation Oncology, Vancouver Cancer Centre, BC Cancer Agency, Vancouver, BC, Canada
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; Director of the Pathology Residency Training Program, Weill Cornell Medical Center of Cornell University, New York, NY
MICHELE LLOYD-PURYEAR, Chief, Genetic Services Branch, Health Resources and Services Administration, Rockville, MD
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
_________________
1 Institute of Medicine 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 rapporteurs and the institution.
IOM Staff
ADAM C. BERGER, Project Director
CLAIRE F. GIAMMARIA, Research Associate
TONIA E. DICKERSON, Senior Program Assistant
ROUNDTABLE ON TRANSLATING GENOMIC-BASED RESEARCH FOR HEALTH1
WYLIE BURKE (Chair), Professor and Chair, Department of Bioethics and Humanities, University of Washington, Seattle
NAOMI ARONSON, Executive Director, Technology Evaluation Center, Blue Cross and Blue Shield Association, Chicago, IL
BRUCE BLUMBERG, 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, Professor, Baylor College of Medicine, Houston, TX
W. GREGORY FEERO, Special Advisor to the Director for Genomic Medicine, National Human Genome Research Institute, Bethesda, MD
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 and Policy, Duke University, Durham, NC
SHARON KARDIA, Professor and Chair of Epidemiology; Director, Public Health Genetics Program; Director, Life Science and Society Program; Codirector, Center for Public Health and Community Genomics, University of Michigan School of Public Health, Ann Arbor
MOHAMED KHAN, representative of the American Medical Association; Leader of Radiation Oncology, Vancouver Cancer Centre, BC Cancer Agency, Vancouver, BC, Canada
MUIN KHOURY, Director, National Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA
DEBRA LEONARD, representative of the College of American Pathologists; Professor and Vice Chair for Laboratory Medicine; Director of the Clinical Laboratories; Director of the Pathology Residency Training Program, Weill Cornell Medical Center of Cornell University, New York, NY
MICHELE LLOYD-PURYEAR, Chief, Genetic Services Branch, Health Resources and Services Administration, Rockville, MD
_________________
1 Institute of Medicine forums and roundtables do not issue, review, or approve individual documents. The responsibility for the published workshop summary rests with the workshop rapporteurs and the institution.
ELIZABETH MANSFIELD, Director of the Personalized Medicine Staff, Office of In Vitro Diagnostic Device Evaluation and Safety, Center for Devices and Radiological Health, U.S. 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
MICHELLE A. PENNY, Senior Director, Translational Medicine Group, Eli Lilly and Company, Indianapolis, IN
AIDAN POWER, Vice President and Global Head of Molecular Medicine, Pfizer Inc., Groton, CT
VICTORIA M. PRATT, Chief Director, Molecular Genetics, Quest Diagnostics Nichols Institute, Chantilly, VA
RONALD PRZYGODZKI, Associate Director for Genomic Medicine, Biomedical Laboratory Research and Development, Department of Veterans Affairs, Washington, DC
ALLEN D. ROSES, President and Chief Operating Officer, Cabernet, Shiraz and Zinfandel Pharmaceuticals; and 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
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
DANIEL WATTENDORF, Deputy Chief, Medical Innovations, Department of the Air Force; Program Manager, DARPA/Defense Sciences Office, Arlington, VA
CATHERINE A. WICKLUND, Past President, National Society of Genetic Counselors; Director, Graduate Program in Genetic Counseling; Associate Professor, Department of Obstetrics and Gynecology, Northwestern University, Chicago, IL
IOM Staff
ADAM C. BERGER, Project Director
SARAH H. BEACHY, Christine Mirzayan Science and Technology Policy Graduate Fellow (August to November 2011)
CLAIRE F. GIAMMARIA, Research Associate
TONIA E. DICKERSON, Senior Program Assistant
ANDREW POPE, Director, Board on Health Sciences Policy
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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:
James P. Evans, Bryson Distinguished Professor of Genetics &Medicine, Department of Genetics, University of North Carolina at Chapel Hill
W. Andrew Faucett, Director, Policy and Education, Genomic Medicine Institute, Geisinger Health System, Danville, PA
Henry T. Greely, Deane F. and Kate Edelman Johnson Professor of Law; Professor, by courtesy, of Genetics; Director, Center for Law and the Biosciences, Stanford University
Mary V. Relling, Chair, Pharmaceutical Department, St. Jude Children’s Research Hospital, Memphis, TN
Cindy L. Vnencak-Jones, Professor, Departments of Pathology and Pediatrics; Director, Molecular Diagnostics Laboratory, Vanderbilt University Medical Center, Nashville, TN
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 Harold J. Fallon, Dean Emeritus of the University of Alabama at Birmingham School of Medicine. 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.
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 Integrating Large-Scale Genomic Information into Clinical Practice. Federal sponsors are the Centers for Disease Control and Prevention; Department of the Air Force; Department of Veterans Affairs; Health Resources and Services Administration; National Cancer Institute; National Heart, Lung, and Blood Institute; and National Human Genome Research Institute. Non-federal sponsorship was provided by the American College of Medical Genetics, American Medical Association, American Nurses Association, Blue Cross and Blue Shield Association, College of American Pathologists, Eli Lilly and Company, Genetic Alliance, Johnson & Johnson, Kaiser Permanente, National Society of Genetic Counselors, and Pfizer Inc.
The Roundtable wishes to express its gratitude to the expert speakers whose presentations helped outline the challenges and opportunities in integrating large-scale genomic information into clinical practice. The Roundtable also wishes to thank the members of the planning committee for their work in developing an excellent workshop agenda. The project director would like to thank project staff who worked diligently to develop both the workshop and the resulting summary. Christine Mirzayan Science and Technology Policy Fellow Sarah H. Beachy was involved in writing and editing of the report, as was research associate Claire F. Giammaria. Tonia E. Dickerson arranged meetings and handled administrative tasks that resulted in a highly successful workshop.
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Contents
2 THE REALIZATION OF GENOMIC MEDICINE
Clinical Applications of Genomics-Based Medicine
Addressing Obstacles and Defining a Path Forward
3 THE ANALYSIS OF GENOMIC DATA
Meaningful Use of Test Results
4 THE INTERPRETATION OF GENOMIC DATA
Data Interpretation from a Clinician’s Perspective
Integrating Genomic Data with Pathology
5 THE DELIVERY OF GENOMIC DATA
Implementing Pharmacogenetics in Clinical Practice
Granting Access to Personal Health Information
Advancing the Utilization of Genomic Information
Building a Business Case for Genetic Testing
Ethical Issues: The Doctor–Patient Relationship
Knowledge, Skill Sets, and Training Opportunities
Databases for Genetic Variants Involved in Cancer
A Public Health Approach to Genomic Medicine
Getting Health Care Providers Interested
Reimbursement for Interpretative Services
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ATM | automated teller machine |
BRCA1 | breast cancer 1, early onset |
BRCA2 | breast cancer 2, early onset |
CAP | College of American Pathologists |
CDC | Centers for Disease Control and Prevention |
CDG | congenital disorders of glycosylation |
CK | creatine kinase |
CLIA | Clinical Laboratory Improvement Amendments |
CLL | chronic lymphocytic leukemia |
CMAMMA | combined malonic and methylmalonic aciduria |
CMD | congenital muscular dystrophy |
CPMC | Coriell Personalized Medicine Collaborative |
CT | computed tomography |
EGFR | epidermal growth factor receptor |
EMR | electronic medical record |
FDA | U.S. Food and Drug Administration |
FISH | fluorescent in situ hybridization |
HCM | hypertrophic cardiomyopathy |
HIV | human immunodeficiency virus |
ICOB | Informed Cohort Oversight Board |
IRB | institutional review board |
IT | information technology |
NCBI | National Center for Biotechnology Information |
NIH | National Institutes of Health |
PCPGM | Partners HealthCare Center for Personalized Genetic Medicine |
PGRN | Pharmacogenomics Research Network |
PHR | personal health record |
SNP | single nucleotide polymorphism |
TPMT | thiopurine S-methyltransferase |
XLID | X-linked intellectual disability |