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Suggested Citation:"Front Matter." Institute of Medicine. 2014. Assessing Genomic Sequencing Information for Health Care Decision Making: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18799.
×

ASSESSING GENOMIC SEQUENCING
INFORMATION FOR HEALTH CARE
DECISION MAKING

WORKSHOP SUMMARY

Roundtable on Translating Genomic-Based
Research for Health

Board on Health Sciences Policy

Sarah H. Beachy, Samuel G. Johnson, Steve Olson, and
Adam C. Berger, Rapporteurs

INSTITUTE OF MEDICINE
               OF THE NATIONAL ACADEMIES

THE NATIONAL ACADEMIES PRESS

Washington, D.C.

www.nap.edu

Suggested Citation:"Front Matter." Institute of Medicine. 2014. Assessing Genomic Sequencing Information for Health Care Decision Making: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18799.
×

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

NOTICE: The workshop that is the subject of this workshop summary 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 Academy of Nursing (unnumbered contract); American College of Medical Genetics and Genomics (unnumbered contract); American Heart Association (unnumbered contract); American Medical Association (unnumbered contract); American Society of Human Genetics (unnumbered contract); Association for Molecular Pathology (unnumbered contract); Blue Cross and Blue Shield Association (unnumbered contract); College of American Pathologists (unnumbered contract); Department of Veterans Affairs (Contract No. VA248-P-1528); Eli Lilly and Company (unnumbered contract); Genetic Alliance (unnumbered contract); Health Resources and Services Administration (Contract No. HHSH250201100119P and Contract No. HHSH25034017T); International Society for Cardiovascular Translational Research (unnumbered contract); Kaiser Permanente Program Offices Community Benefit II at the East Bay Community Foundation (Contract No. 20121257); Life Technologies (unnumbered contract); Merck & Co., Inc. (CMO-140505-000393); National Cancer Institute (Contract No. HHSN263201200074I, TO#5); National Human Genome Research Institute (Contract No. HHSN263201200074I, TO#5); National Institute of Mental Health (Contract No. HHSN263201200074I, TO#5); National Institute of Nursing Research (Contract No. HHSN263201200074I, TO#5); National Institute on Aging (Contract No. HHSN263201200074I, TO#5); National Society of Genetic Counselors (unnumbered contract); Northrop Grumman Health IT (unnumbered contract); Pfizer Inc. (unnumbered contract); and PhRMA (unnumbered contract). The views presented in this publication do not necessarily reflect the views of the organizations or agencies that provided support for the activity.

International Standard Book Number-13: 978-0-309-30494-8
International Standard Book Number-10: 0-309-30494-6

Additional copies of this report are available for sale from the National Academies Press, 500 Fifth Street, NW, Keck 360, Washington, DC 20001; (800) 624-6242 or (202) 334-3313; http://www.nap.edu.

For more information about the Institute of Medicine, visit the IOM home page at: www.iom.edu.

Copyright 2014 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). 2014. Assessing genomic sequencing information for health care decision making: Workshop summary. Washington, DC: The National Academies Press.

Suggested Citation:"Front Matter." Institute of Medicine. 2014. Assessing Genomic Sequencing Information for Health Care Decision Making: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18799.
×

Knowing is not enough; we must apply.
Willing is not enough; we must do.
”      

                                                —Goethe

image

INSTITUTE OF MEDICINE
              OF THE NATIONAL ACADEMIES

Advising the Nation. Improving Health.

Suggested Citation:"Front Matter." Institute of Medicine. 2014. Assessing Genomic Sequencing Information for Health Care Decision Making: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18799.
×

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.

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 engineering programs aimed at meeting national needs, encourages education and research, and recognizes the superior achievements of engineers. Dr. C. D. Mote, Jr., is president 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 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. Victor J. Dzau 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. C. D. Mote, Jr., are chair and vice chair, respectively, of the National Research Council.

www.national-academies.org

Suggested Citation:"Front Matter." Institute of Medicine. 2014. Assessing Genomic Sequencing Information for Health Care Decision Making: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18799.
×

PLANNING COMMITTEE1

DAVID VEENSTRA (Chair), Professor, Pharmaceutical Outcomes Research and Policy Program, Department of Pharmacy, University of Washington, Seattle

PAUL R. BILLINGS, former Chief Medical Officer, Life Technologies, Carlsbad, CA

PAMELA BRADLEY, Staff Fellow, Personalized Medicine Staff, Office of In Vitro Diagnostics and Radiological Health, Center for Devices and Radiological Health, U.S. Food and Drug Administration, Silver Spring, MD

PHILIP J. BROOKS, Health Scientist Administrator, Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD

ANN CASHION, Scientific Director, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD

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

THOMAS LEHNER, Director, Office of Genomics Research Coordination, National Institute of Mental Health, Bethesda, MD

DEBRA LEONARD, Representative of the College of American Pathologists; Professor and Chair of Pathology at the University of Vermont College of Medicine; Physician Leader of Pathology and Laboratory Medicine at Fletcher Allen Health Care, University of Vermont College of Medicine, University of Vermont, Burlington

ROBERT MCCORMACK, Head, Technology Innovation and Strategy, Veridex, LLC, Raritan, NJ

VICTORIA M. PRATT, Representative of the Association for Molecular Pathology; Associate Professor of Clinical Medical and Molecular Genetics and Director, Pharmacogenomics Diagnostic Laboratory, Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis

JANET K. WILLIAMS, Representative of the American Academy of Nursing; Professor of Nursing, University of Iowa, College of Nursing, Chair of Behavioral and Social Science, Iowa City

_____________________

1Institute 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.

Suggested Citation:"Front Matter." Institute of Medicine. 2014. Assessing Genomic Sequencing Information for Health Care Decision Making: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18799.
×

IOM Staff

ADAM C. BERGER, Project Director

SARAH H. BEACHY, Associate Program Officer

TONIA E. DICKERSON, Senior Program Assistant (until January 2014)

MEREDITH HACKMANN, Senior Program Assistant (from January 2014)

Suggested Citation:"Front Matter." Institute of Medicine. 2014. Assessing Genomic Sequencing Information for Health Care Decision Making: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18799.
×

ROUNDTABLE ON TRANSLATING GENOMIC-BASED RESEARCH FOR HEALTH1

GEOFFREY GINSBURG (Co-Chair), Director, Center for Genomic Medicine, Institute for Genomic Sciences and Policy, Duke University, Durham, NC

SHARON TERRY (Co-Chair), President and Chief Executive Officer, Genetic Alliance, Washington, DC

NAOMI ARONSON, Executive Director, Technology Evaluation Center, Blue Cross and Blue Shield Association, Chicago, IL

EUAN ANGUS ASHLEY, Representative of the American Heart Association; Director, Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Palo Alto, CA

PAUL R. BILLINGS, former Chief Medical Officer, Life Technologies, Carlsbad, CA

BRUCE BLUMBERG, Institutional Director of Graduate Medical Education, Northern California Kaiser Permanente, Permanente Medical Group, Oakland, CA

PAMELA BRADLEY, Staff Fellow, Personalized Medicine Staff, Office of In Vitro Diagnostics and Radiological Health, Center for Devices and Radiological Health, U.S. Food and Drug Administration, Silver Spring, MD

PHILIP J. BROOKS, Health Scientist Administrator, Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD

ANN CASHION, Scientific Director, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD

C. THOMAS CASKEY, Professor, Baylor College of Medicine, Houston, TX

ROBERT B. DARNELL, President and Scientific Director, New York Genome Center; Investigator, Howard Hughes Medical Institute, Heilbrunn Cancer Professor and Senior Physician, Head, Laboratory of Molecular Neuro-Oncology, Rockefeller University, New York

MICHAEL J. DOUGHERTY, Director of Education, American Society of Human Genetics, Bethesda, MD

_____________________

1Institute 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.

Page viii Cite
Suggested Citation:"Front Matter." Institute of Medicine. 2014. Assessing Genomic Sequencing Information for Health Care Decision Making: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18799.
×

VICTOR DZAU, former President and Chief Executive Officer, Duke University Health System; Chancellor for Health Affairs, Duke University, Durham, NC

W. GREGORY FEERO, Contributing Editor, Journal of the American Medical Association, Chicago, IL

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

JENNIFER L. HALL, Representative of the International Society for Cardiovascular Translational Research; Associate Professor of Medicine, University of Minnesota, Minneapolis

RICHARD J. HODES, Director, National Institute on Aging, Bethesda, MD

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

GABRIELA LAVEZZARI, Assistant Vice President, Scientific Affairs, PhRMA, Washington, DC

THOMAS LEHNER, Director, Office of Genomics Research Coordination, National Institute of Mental Health, Bethesda, MD

DEBRA LEONARD, Representative of the College of American Pathologists; Professor and Chair of Pathology at the University of Vermont College of Medicine; Physician Leader of Pathology and Laboratory Medicine at Fletcher Allen Health Care, University of Vermont College of Medicine, University of Vermont, Burlington

TERI A. MANOLIO, Director, Division of Genomic Medicine, National Human Genome Research Institute, Rockville, MD

OLUFUNMILAYO F. OLOPADE, Walter L. Palmer Distinguished Service Professor of Medicine; Director, Center for Clinical Cancer Genetics; Associate Dean for Global Health, University of Chicago, IL

MICHELLE A. PENNY, Senior Director, Translational Medicine Group, Eli Lilly and Company, Indianapolis, IN

AIDAN POWER, Vice President and Head, PharmaTx Precision Medicine, Pfizer Inc., Groton, CT

VICTORIA M. PRATT, Representative of the Association for Molecular Pathology; Associate Professor of Clinical Medical and Molecular Genetics and Director, Pharmacogenomics Diagnostic Laboratory, Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis

Suggested Citation:"Front Matter." Institute of Medicine. 2014. Assessing Genomic Sequencing Information for Health Care Decision Making: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18799.
×

RONALD PRZYGODZKI, Associate Director for Genomic Medicine and Acting Director of 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

JOAN A. SCOTT, Chief, Genetic Services Branch, Division of Services for Children with Special Health Needs, Maternal and Child Health Bureau, Rockville, MD

SAM SHEKAR, Chief Medical Officer, Health Information Technology Program, Northrop Grumman Information Systems, McLean, VA

KATHERINE JOHANSEN TABER, Director, Personalized Medicine, American Medical Association, Chicago, IL

DAVID VEENSTRA, Professor, Pharmaceutical Outcomes Research and Policy Program, Department of Pharmacy, University of Washington, Seattle

MICHAEL S. WATSON, Executive Director, American College of Medical Genetics and Genomics, Bethesda, MD

DANIEL WATTENDORF, Deputy Chief, Medical Innovations, Department of the Air Force; Program Manager, Defense Advanced Research Projects Agency/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

JANET K. WILLIAMS, Representative of the American Academy of Nursing; Professor of Nursing, University of Iowa, College of Nursing, Chair of Behavioral and Social Science, Iowa City

Fellow

SAMUEL G. JOHNSON, American Association of Colleges of Pharmacy/American College of Clinical Pharmacy Anniversary Fellow

Suggested Citation:"Front Matter." Institute of Medicine. 2014. Assessing Genomic Sequencing Information for Health Care Decision Making: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18799.
×

IOM Staff

ADAM C. BERGER, Project Director

SARAH H. BEACHY, Associate Program Officer

TONIA E. DICKERSON, Senior Program Assistant (until January 2014)

MEREDITH HACKMANN, Senior Program Assistant (from January 2014)

Board on Health Sciences Policy Staff

ANDREW M. POPE, Director

DONNA RANDALL, Administrative Assistant

Suggested Citation:"Front Matter." Institute of Medicine. 2014. Assessing Genomic Sequencing Information for Health Care Decision Making: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18799.
×

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:

Jonathan S. Berg, University of North Carolina at Chapel Hill

Robert C. Green, Brigham and Women’s Hospital and Harvard Medical School

Kenneth Offit, Memorial Sloan-Kettering Cancer Center

John Pfeifer, Washington University School of Medicine

Although the reviewers listed above have provided many constructive comments and suggestions, they did not see the final draft of the report before its release. The review of this report was overseen by Melvin Worth. 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 rapporteurs and the institution.

Suggested Citation:"Front Matter." Institute of Medicine. 2014. Assessing Genomic Sequencing Information for Health Care Decision Making: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18799.
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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 Assessing Genomic Sequencing Information for Health Care Decision Making and for the development of the workshop summary report. Federal sponsors are the Department of Veterans Affairs; Health Resources and Services Administration; National Cancer Institute; National Human Genome Research Institute; National Institute of Mental Health; National Institute of Nursing Research; and National Institute on Aging. Nonfederal sponsorship was provided by the American Academy of Nursing; American College of Medical Genetics and Genomics; American Heart Association; American Medical Association; American Society of Human Genetics; Association for Molecular Pathology; Blue Cross and Blue Shield Association; College of American Pathologists; Eli Lilly and Company; Genetic Alliance; International Society for Cardiovascular Translational Research; Kaiser Permanente Program Offices Community Benefit II at the East Bay Community Foundation; Life Technologies; Merck & Co., Inc., National Society of Genetic Counselors; Northrop Grumman Health IT; Pfizer Inc.; and PhRMA.

The Roundtable wishes to express its gratitude to the expert speakers whose presentations helped outline the challenges in as well as the opportunities for assessing genomic information for decision making. The Roundtable also wishes to thank the members of the planning committee

Suggested Citation:"Front Matter." Institute of Medicine. 2014. Assessing Genomic Sequencing Information for Health Care Decision Making: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18799.
×

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.

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Abbreviations and Acronyms

AAP

American Academy of Pediatrics

ACMG

American College of Medical Genetics and Genomics

ASCO

American Society of Clinical Oncology

CED

coverage with evidence development

CMS

Centers for Medicare & Medicaid Services

CMTP

Center for Medical Technology Policy

CPB

clinical policy bulletin

CSER

Clinical Sequencing Exploratory Research

EGAPP

Evaluation of Genomic Applications in Practice and Prevention

EGD

effectiveness guidance document

EHR

electronic health record

ENIGMA

Evidence-based Network for the Interpretation of Germline Mutant Alleles

FDA

U.S. Food and Drug Administration

HIPAA

Health Insurance Portability and Accountability Act

IMPACT

Integrated Mutation Profiling of Actionable Cancer Targets

IOM

Institute of Medicine

IRB

institutional review board

Suggested Citation:"Front Matter." Institute of Medicine. 2014. Assessing Genomic Sequencing Information for Health Care Decision Making: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18799.
×

MEDCAC

Medicare Evidence Development and Coverage Advisory Committee

NCCN

National Comprehensive Cancer Network

QOPI

Quality Oncology Practice Initiative

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Rapid advances in technology have lowered the cost of sequencing an individual's genome from the several billion dollars that it cost a decade ago to just a few thousand dollars today and have correspondingly greatly expanded the use of genomic information in medicine. Because of the lack of evidence available for assessing variants, evaluation bodies have made only a few recommendations for the use of genetic tests in health care. For example, organizations, such as the Evaluation of Genomic Applications in Practice and Prevention working group, have sought to set standards for the kinds of evaluations needed to make population-level health decisions. However, due to insufficient evidence, it has been challenging to recommend the use of a genetic test. An additional challenge to using large-scale sequencing in the clinic is that it may uncover "secondary," or "incidental," findings - genetic variants that have been associated with a disease but that are not necessarily related to the conditions that led to the decision to use genomic testing. Furthermore, as more genetic variants are associated with diseases, new information becomes available about genomic tests performed previously, which raises issues about how and whether to return this information to physicians and patients and also about who is responsible for the information.

To help develop a better understanding of how genomic information is used for healthcare decision making, the Roundtable on Translating Genomic-Based Research for Health of the Institute of Medicine held a workshop in Washington,DC in February 2014. Stakeholders, including clinicians, researchers, patients, and government officials, discussed the issues related to the use of genomic information in medical practice. Assessing Genomic Sequencing Information for Health Care Decision Making is the summary of that workshop. This report compares and contrasts evidence evaluation processes for different clinical indications and discusses key challenges in the evidence evaluation process.

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