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Suggested Citation:"Front Matter." Institute of Medicine. 2012. Genome-Based Diagnostics: Clarifying Pathways to Clinical Use: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/13359.
×

GENOME-BASED DIAGNOSTICS

Clarifying Pathways to Clinical Use

WORKSHOP SUMMARY

Steve Olson 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

Suggested Citation:"Front Matter." Institute of Medicine. 2012. Genome-Based Diagnostics: Clarifying Pathways to Clinical Use: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/13359.
×

THE NATIONAL ACADEMIES PRESS    500 Fifth Street, NW    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 the American College of Medical Genetics and Genomics (unnumbered contract); American Heart Association (unnumbered contract); American Medical Association (unnumbered contract); American Nurses Association (unnumbered contract); American Society of Human Genetics (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); The Kaiser Permanente Program Offices Community Benefit II at the East Bay Community Foundation (Contract No. 20121257); Life Technologies (unnumbered contract); National Cancer Institute (Contract No. N01-OD-4-2139, TO#189); National Coalition for Health Professional Education in Genetics (unnumbered contract); National Heart, Lung, and Blood Institute (Contract No. N01-OD-4-2139, TO#275); National Human Genome Research Institute (Contract No. N01-OD-4-2139, TO#264); National Institute of Mental Health (Contract No. N01-OD-4-2139, TO#275); National Institute on Aging (Contract No. N01-OD-4-2139, TO#275); National Society of Genetic Counselors (unnumbered contract); Office of Rare Diseases Research (Contract No. N01-OD-4-2139, TO#275); 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.

International Standard Book Number-13: 978-0-309-25394-9
International Standard Book Number-10: 0-309-25394-2

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 2012 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). 2012. Genome-Based Diagnostics: Clarifying Pathways to Clinical Use: Workshop Summary. Washington, DC: The National Academies Press.

Suggested Citation:"Front Matter." Institute of Medicine. 2012. Genome-Based Diagnostics: Clarifying Pathways to Clinical Use: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/13359.
×

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

image

INSTITUTE OF MEDICINE
             OF THE NATION ACADEMIES

Advising the Nation. Improving Health.

Suggested Citation:"Front Matter." Institute of Medicine. 2012. Genome-Based Diagnostics: Clarifying Pathways to Clinical Use: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/13359.
×

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. Charles Vest 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. 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.

www.national-academies.org

Suggested Citation:"Front Matter." Institute of Medicine. 2012. Genome-Based Diagnostics: Clarifying Pathways to Clinical Use: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/13359.
×

PLANNING COMMITTEE1

DEBRA LEONARD (Co-Chair), 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

ROBERT McCORMACK (Co-Chair), Head of Cellular Research and Development and Technology Strategy, Veridex, LLC, Raritan, NJ

DANIEL HAYES, Clinical Director of the Breast Oncology Program, Stuart B. Padnos Professor in Breast Cancer Research, University of Michigan, Ann Arbor, MI

ELIZABETH MANSFIELD, Director of the Personalized Medicine Staff, Office of In Vitro Diagnostic Device Evaluation and Safety in the Center for Devices and Radiological Health, Food and Drug Administration, Silver Spring, MD

ROBERT NUSSBAUM, Chief, Division of Medical Genetics, Department of Medicine and Institute of Human Genetics, University of California, San Francisco, School of Medicine

VICTORIA PRATT, Chief Director, Molecular Genetics, Quest Diagnostics Nichols Institute, Chantilly, VA

RONALD PRZYGODZKI, Associate Director for Genomic Medicine and Acting Director of Biomedical Laboratory Research and Development, Office of Research and Development, Department of Veterans Affairs, Washington, DC

DANIEL WATTENDORF, Deputy Chief, Medical Innovations, Department of the Air Force; Program Manager, DARPA/Defense Sciences Office, Arlington, VA

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

image

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.

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ROUNDTABLE ON TRANSLATING GENOMICBASED 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

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, Chief Medical Officer, Life Technologies, Carlsbad, CA

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

JOANN A. BOUGHMAN, Executive Vice President, American Society of Human Genetics, Bethesda, MD

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

SARA COPELAND, Acting Chief, Genetic Services Branch, Health Resources and Services Administration, Rockville, MD

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

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

image

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.

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×

SHARON KARDIA, Professor and Chair of Epidemiology; Director, Public Health Genetics Program; Director, Life Science and Society Program; Co-Director, Center for Public Health and Community Genomics, University of Michigan School of Public Health, Ann Arbor, MI

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

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 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 A. LLOYD-PURYEAR, representative of the Office of Rare Diseases Research; Senior Medical and Scientific Advisor, National Institute of Child Health & Human Development, Bethesda, MD

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 and Acting Director of Biomedical Laboratory Research and Development, Department of Veterans Affairs, Washington, DC

Suggested Citation:"Front Matter." Institute of Medicine. 2012. Genome-Based Diagnostics: Clarifying Pathways to Clinical Use: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/13359.
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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

JOAN A. SCOTT, Executive Director, National Coalition for Health Professional Education in Genetics, Lutherville, MD

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 and Genomics, 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

SEAN P. DAVID, James C. Puffer, M.D./American Board of Family Medicine Fellow

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:

Louis I. Hochheiser, Chief Medical Leader, Humana Inc., Jackson, WY

Stanley Lapidus, Founder, President, and Chief Executive Officer, SynapDx Corp., Southborough, MA

Ellen Sigal, Chairperson and Founder, Friends of Cancer Research, Washington, DC

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 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.

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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 Facilitating the Development and Utilization of Genome-Based Diagnostic Technologies and the development of the workshop summary report titled Genome-Based Diagnostics: Clarifying Pathways to Clinical Use. 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; National Human Genome Research Institute; National Institute of Mental Health; National Institute on Aging; and Office of Rare Diseases Research. Nonfederal sponsorship was provided by the American College of Medical Genetics and Genomics; American Heart Association; American Medical Association; American Nurses Association; American Society of Human Genetics; Blue Cross and Blue Shield Association; College of American Pathologists; Eli Lilly and Company; Genetic Alliance; Johnson & Johnson; The Kaiser Permanente Program Offices Community Benefit II at the East Bay Community Foundation; Life Technologies; National Coalition for Health Professional Education in Genetics; 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 developing clinically useful genomic diagnostic tests. 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.

Suggested Citation:"Front Matter." Institute of Medicine. 2012. Genome-Based Diagnostics: Clarifying Pathways to Clinical Use: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/13359.
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Abbreviations and Acronyms

AHRQ

Agency for Healthcare Research and Quality

BRCA1

breast cancer type 1

BRCA2

breast cancer type 2

CAP

College of American Pathologists

CDC

Centers for Disease Control and Prevention

CDER

Center for Drug Evaluation and Research

CDRH

Center for Devices and Radiological Health

CED

coverage with evidence development

CLIA

Clinical Laboratory Improvement Amendments

CMS

Centers for Medicare & Medicaid Services

EGAPP

Evaluation of Genomic Applications in Practice and Prevention

FDA

U.S. Food and Drug Administration

GAPPNet

Genomic Applications Practice and Prevention Network

GP

general partner

IDE

investigational device exemption

IND

Investigational New Drug

IOM

Institute of Medicine

IRB

institutional review board

Suggested Citation:"Front Matter." Institute of Medicine. 2012. Genome-Based Diagnostics: Clarifying Pathways to Clinical Use: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/13359.
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LDT

laboratory-developed test

LP

limited partner

NCCS

National Coalition for Cancer Survivorship

NIH

National Institutes of Health

NVCA

National Venture Capital Association

ODAC

Oncologic Drugs Advisory Committee

PMA

premarket approval

PSA

prostate-specific antigen

RCT

randomized controlled trial

SACGHS

Secretary’s Advisory Committee on Genetics, Health, and Society

USPSTF

U.S. Preventive Services Task Force

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The sequencing of the human genome and the identification of associations between specific genetic variants and diseases have led to an explosion of genomic-based diagnostic tests. These tests have the potential to direct therapeutic interventions, predict risk or onset of disease, or detect residual disease. As research progresses and an increasing number of associations are found, further tests will be developed that can aid in providing personalized treatment options for patients. However, the adoption of genomic diagnostic tests by health care providers has been limited due to a lack of evidence regarding the clinical utility of many tests. Health funders and practitioners lack the data necessary to distinguish which tests can improve practice or the clinical settings in which tests will provide the greatest value. The Roundtable on Translating Genomic-Based Research for Health held a workshop in November 2010 to determine what evidence is needed and how it is viewed by different stakeholders in order to develop genomic diagnostic tests of clinical value.

Genome-Based Diagnostics summarizes the presentations and discussions that took place throughout the workshop. Two presentations, in particular, sparked extensive discussion. One presentation proposed that all genomic diagnostic tests be reviewed and approved by the Food and Drug Administration. The other observed that venture capitalists are no longer investing substantially in the development of genomic diagnostic tests because of a lack of clarity surrounding regulatory and reimbursement pathways. Both presentations suggested the need for major changes in the systems used to develop, regulate, and reimburse genomic diagnostic tests. The report also presents the perspectives of different stakeholders in the development of genomic diagnostic tests. Each stakeholder group has a different set of needs and issues of importance, yet commonalities among them are apparent, such as the need to put patients and health outcomes at the center of discussion and action.

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