CHALLENGES AND OPPORTUNITIES IN USING RESIDUAL NEWBORN SCREENING SAMPLES FOR TRANSLATIONAL RESEARCH

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

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Challenges and OppOrtunities in using residual newbOrn sCreening samples fOr translatiOnal researCh Workshop summary Steve Olson and Adam C. Berger, Rapporteurs 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 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); Greenwall Foundation (unnumbered contract); Health Resources and Services Administration; Johnson & Johnson (unnumbered contract); Kaiser Permanente (unnumbered contract); March of Dimes Foundation (Contract No. 4-FY10-420); 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 Secre - tary’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 publica- tion are those of the author(s) and do not necessarily reflect the views of the organizations or agencies that provided support for the project. International Standard Book Number-13: 978-0-309-15954-8 International Standard Book Number-10: 0-309-15954-7 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 2010 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). 2010. Challenges and Opportunities in Using Residual Newborn Screening Samples for Translational Research: Workshop Summary. Wash- ington, 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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PLANNING COMMITTEE* WyLIE BuRkE, Professor and Chair, Department of Bioethics and Humanities, University of Washington, Seattle ELLEN WRIGHT CLAyTON, Rosalind E. Franklin Professor of Genetics and Health Policy; Director of the Center for Biomedical Ethics and Society; Professor of Pediatrics and Law, Vanderbilt University, Nashville, TN SHARON LEE REILLy 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 MICHAEL kATZ, Senior Vice President for Research and Global Programs, March of Dimes Birth Defects Foundation 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 MARTHA TuRNER, Assistant Director, American Nurses Association Center for Ethics and Human Rights, Silver Spring, MD IOM Staff ADAM C. BERGER, Project Director ALEx REPACE, Senior Project Assistant * 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 rapporteurs and the institution. 

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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 Representative; 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 * IOM 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. i

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ALLAN kORN, Chief Medical Officer, Senior Vice President, Clinical Affairs, Blue Cross and Blue Shield Association, Chicago, IL DEBRA LEONARD, College of American Pathologists Representative; Professor and Vice Chair for Laboratory Medicine, Director of the Clinical Laboratories, Weill Cornell Medical Center of Cornell University, New York 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 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 ii

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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 ALEx REPACE, Senior Project Assistant ANDREW POPE, Director, Board on Health Sciences Policy iii

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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: Jeffrey R. Botkin, Professor of Pediatrics, Department of Pediatrics; Adjunct Professor of Medicine, Department of Internal Medicine Division of Medical Ethics and Humanities, University of Utah School of Medicine; Associate Vice President for Research Integrity, University of Utah, Salt Lake City Michele Caggana, Deputy Director, Division of Genetics; Chief, Laboratory of Human Genetics; Director, Newborn Screening Program; Head, Genetic Testing Section, New York State Department of Health Wadsworth Center, Albany Robert F. Vogt, Jr., Newborn Screening Branch, Division of Laboratory Sciences, Centers for Disease Control and Prevention, Atlanta, GA Ann Waldo, Senior Counsel, Genetic Alliance, Washington, DC ix

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x REVIEWERS Although the reviewers listed above have provided many construc- tive 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 mak- ing 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.

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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, Challenges and Opportunities in Using New- born Screening Samples for Translational Research. Federal sponsors are the Centers for Disease Control and Prevention; 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 for Child Health and Human Development; and the Secretary’s Advisory Committee on Genetics, Health, and Society. Non-federal sponsorship was provided by the American Col- lege 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.; Greenwall Foundation; Johnson & Johnson; Kaiser Perman- ente; March of Dimes Foundation; the National Society of Genetic Coun- selors; and Pfizer Inc. The Roundtable wishes to express its gratitude to the expert speakers whose presentations highlighted the challenges that need to be resolved in order to make newborn screening samples accessible for research with- out compromising the function of the newborn screening program. These speakers were Wylie Burke, Michele Caggana, Ellen Wright Clayton, Anne Comeau, Kelly Edwards, Alan Fleischman, Alissa Johnson, Sharon Kardia, Kenneth Pass, Sharon Terry, and Ann Waldo. xi

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xii ACKNOWLEDGMENTS 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 Wylie Burke, Ellen Wright Clayton, Sharon Kardia, Michael Katz, Allen Roses, and Martha Turner.

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Contents ABBREVIATIONS AND ACRONyMS xv 1 INTRODuCTION 1 2 NEWBORN SCREENING AS A PuBLIC HEALTH PROGRAM 5 Benefits and Prerequisites of Newborn Screening, 5 Principles Behind Newborn Screening, 7 Stakeholders in Newborn Screening, 8 3 uSES OF RESIDuAL NEWBORN SCREENING SAMPLES IN RESEARCH 9 The Continuum from Service to Research, 9 Past and Present Usage, 11 Research Potential of Residual Newborn Screening Samples, 13 An Integrated Record of Child Health, 15 4 CONCERNS ABOuT THE uSE OF RESIDuAL NEWBORN SCREENING SAMPLES 19 Separating Concerns from Issues, 19 Concerns and the Potential for Harm, 22 Concerns About Privacy and Security, 23 State Laws and Practices, 24 Legal Concerns Regarding the Use of Residual Dried Blood Spots, 26 xiii

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xi CONTENTS 5 REVIEW AND CONSENT IN THE uSE OF RESIDuAL NEWBORN SCREENING SAMPLES 31 Distinguishing Between Anonymized and De-Identified Samples, 31 A Sense of Stewardship, 32 Maintaining Public Trust, 33 New Ways of Thinking About Consent, 34 The Use of Technology in Consent, 35 Issues with Expanded Consent, 36 The Role of Review Boards, 40 Transparency in Screening Programs and Research, 41 Building Relationships, 43 6 PARENTAL AND PuBLIC EDuCATION 45 The Need for Outreach, 45 Forms of Outreach, 46 The Limits of Education, 48 7 WORkSHOP OVERVIEW AND WRAP-uP 51 REFERENCES 55 APPENDIxES A WORKSHOP AGENDA 57 B SPEAKER BIOGRAPHICAL SKETCHES 61 FIGuRES 2-1 The number of cases detected (169)/100,000 screened through the New England newborn screening program, 6 3-1 The CHI2 vision of integrating public health databases is juxtaposed with the current separated systems approach used in New York State, 16 BOxES 1-1 Definition, 1 3-1 A Use Case for Integrated Information, 17 4-1 Examples of Permitted Uses, 26

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Abbreviations and Acronyms CDC Centers for Disease Control and Prevention CHI2 Child Health Information Integration GINA Genetic Information Nondiscrimination Act HIPAA Health Insurance Portability and Accountability Act IRB institutional review board PKU phenylketonuria RHIO regional health information organization SACHDNC Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children SCID severe combined immunodeficiency TIES Trust, Integrity, and Ethics in Science x

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