DIRECT-TO-CONSUMER GENETIC TESTING

Summary of a Workshop

Mary Fraker and Anne-Marie Mazza, Rapporteurs

Committee on Science, Technology, and Law

Policy and Global Affairs

Board on Life Sciences

Division on Earth and Life Studies

Forum on Drug Discovery, Development, and Translation

Board on Health Sciences Policy

Roundtable on Translating Genomic-Based Research for Health

Board on Health Sciences Policy

National Cancer Policy Forum

Board on Health Care Services

INSTITUTE OF MEDICINE AND
NATIONAL RESEARCH COUNCIL
OF THE NATIONAL ACADEMIES

THE NATIONAL ACADEMIES PRESS

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Mary Fraker and Anne-Marie Mazza, Rapporteurs Committee on Science, Technology, and Law Policy and Global Affairs Board on Life Sciences Division on Earth and Life Studies Forum on Drug Discovery, Development, and Translation Board on Health Sciences Policy Roundtable on Translating Genomic-Based Research for Health Board on Health Sciences Policy National Cancer Policy Forum Board on Health Care Services

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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. The members of the committee responsible for the report were chosen for their special competences and with regard for appropriate balance. International Standard Book Number-13: 0-978-0-309-16216-6 International Standard Book Number-10: 0-309-16216-5 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: www.nap.edu. Copyright 2011 by the National Academy of Sciences. All rights reserved. Printed in the United States of America

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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 M. 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 examina - tion 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 M. Vest are chair and vice chair, respectively, of the National Research Council. www.national-academies.org

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Preface At a televised ceremony on May 31, 2007, Richard Gibbs, director of the Human Genome Sequencing Center at the Baylor College of Medicine, presented DNA pioneer James Watson with a copy of his entire genome sequence. Two years later, in January 2009, Harvard Uni - versity professor Steven Pinker famously announced in the New York Times that he was allowing his sequenced genome—and entire medical history—to be posted online in the Personal Genome Project’s public database; a database designed to contain genomes and traits of 100,000 people. Today, scores of companies, primarily in the United States and Europe, are offering whole genome scanning services directly to the public. These companies are web-based services that offer individu - als living anywhere the opportunity to learn about their own personal genetic makeup. It is important to understand that, in general, these services do not offer the whole genome sequencing provided to Watson and Pinker but rather the sequencing of selected regions of the genome to examine different sets of specific alleles that have been reported in the scientific literature to be associated with particular clinical phenotypes. The associations, reported as “probabilities,” confer a small increase in risk of developing certain diseases, but it is difficult even for experts to interpret their significance. Notwithstanding these concerns, many individuals have sought these services, and many news outlets have reported on and covered “spitting” parties where individuals contribute their saliva for genotyping—thus adding to the popularity and novelty of these tests. Although the companies and their services have become highly visible, some argue that there is insufficient regulatory oversight to pro - 

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i PREFACE vide adequate quality assurance to consumers who use these tests. The proliferation of these companies and the services they offer demonstrate a public appetite for this information and where the future of genetics may be headed; they also demonstrate the need for serious discussion about the regulatory environment, patient privacy, and other policy implications of direct-to-consumer (DTC) genetic testing. Rapid advances in genetic research already have begun to transform clinical practice and our understanding of disease progression. Exist - ing research has revealed a genetic basis or component for numerous diseases, including Parkinson’s disease, Alzheimer’s disease, diabetes, heart disease, and several forms of cancer. The availability of the human genome sequence and the HapMap, plummeting costs of high-through- put screening, and increasingly sophisticated computational analyses have led to an explosion of discoveries of linkages between patterns of genetic variation and disease susceptibility. This research is by no means a straight path toward better public health; almost all of the major dis- eases facing humankind today have a genetic component—usually involv- ing many genes, not just one—as well as environmental and behavioral components. Improved knowledge of the genetic linkages, however, has the potential to change fundamentally the way health professionals and public health practitioners approach the prevention and treatment of disease. Realizing this potential will require greater sophistication in the interpretation of genetic tests, new training for physicians and other diag- nosticians, and new approaches to communicating findings to the public. As this rapidly growing field matures, all of these questions require atten- tion from a variety of perspectives. To discuss some of the foregoing issues, several units of the National Academies held a workshop on August 31 and September 1, 2009, to bring together a still-developing community of professionals from a variety of relevant disciplines, to educate the public and policy-mak - ers about this emerging field, and to identify issues for future study. The workshop brought together physicians, scientists, lawyers, ethicists, patient advocacy groups, industry representatives, and other stakehold - ers to identify issues associated with the increasing availability and use of DTC genetic testing and appropriate policy responses. The meeting featured several invited presentations and discussions on the many tech- nical, legal, policy, and ethical questions that such DTC testing raises, including: (1) overview of the current state of knowledge and the future research trajectory; (2) shared genes and emerging issues in privacy;

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ii PREFACE (3) the regulatory framework; and (4) education of the public and the medical community. This workshop summary has been prepared by the workshop rap- porteurs as a factual summary of what occurred at the workshop. The statements made are those of the rapporteurs or individual workshop participants and do not necessarily represent the views of all work - shop participants, the planners of the workshop, or the National Academies.

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Acknowledgments We gratefully acknowledge the efforts of the workshop planning group. The planning group helped identify topics for the workshop, framed the focus for each session, and suggested speakers. We wish to thank the planning group co-chairs Frederick Anderson, Jr., Partner, McKenna, Long & Aldridge, LLP; Barbara Bierer, Professor of Medicine, Harard Medical School and Senior Vice President, Research, Brigham and Women’s Hospital; and members Joseph Fraumeni, Jr., Director, Diision of Cancer Epidemiology and Genetics, National Cancer Institute ; Patricia Ganz, Professor of Health Serices, School of Public Health and Professor of Medicine, Daid Geffen School of Medicine, Uniersity of Califor- nia, Los Angeles; Mikhail Gishizky, Chief Scientific Officer, Entelos, Inc.; Alberto Gutierrez, Deputy Director for New Product Ealuation, U.S. Food and Drug Administration; Kathy Hudson, Director, Genetics and Public Policy Center, Johns Hopkins Berman Institute of Bioethics (until July 31, 2009); Muin Khoury, Director, National Office of Public Health Genomics, Coordinating Center for Health Promotion, Centers for Dis - ease Control and Preention; David Korn, Vice Proost for Research, Har- ard Uniersity; and Jonathan Moreno, Daid and Lyn Silfen Uniersity Professor, Center for Bioethics, Uniersity of Pennsylania Health System. We also acknowledge the contributions of the following individuals who made presentations at the workshop: Timothy Aitman, Professor of Clinical and Molecular Genetics, Diision of Clinical Sciences, Imperial College London; Susannah Baruch, Policy Director, Generations Ahead and Policy Analyst, Genetics and Public Policy Center, Johns Hopkins Uniersity; K. David Becker, Chief Scientific Officer, Pathway Genomics Corporation; Andrea Ferreira-Gonzalez, Professor of Pathology, Virginia Commonwealth Uniersity and Director, The Molecular Diagnostics Labo- ix

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x ACKNOWLEDGMENTS ratory, Virginia Commonwealth Uniersity Health System; Harvey Fine- berg, President, Institute of Medicine; Katrina Goddard, Senior Inesti- gator, Kaiser Permanente Center for Health Research; Alan Guttmacher, Acting Director, National Human Genome Research Institute, National Institutes of Health (until November 3, 2009); Courtney Harper, Act- ing Director of the Diision of Chemistry and Toxicology Deices, Office of In Vitro Diagnostic Deice Ealuation and Safety, Center for Deices and Radiological Health, U.S. Food and Drug Administration; Gregory Kutz, Managing Director, Forensic Audits and Special Inestigations, Goernment Accountability Office; Sandra Soo-Jin Lee, Senior Research Scholar, Stanford Center for Biomedical Ethics; Elissa Levin, Director, Genetic Counseling Program, Naigenics, Inc.; Joseph McInerney, Execu- tie Director, National Coalition for Health Professional Education in Genetics; Kathryn Phillips, Professor of Health Economics and Health Serices Research, Uniersity of California, San Francisco; Scott Wood- ward, Director, Sorenson Molecular Genealogy Foundation. This report has been reviewed in draft form by individuals chosen for their diverse perspectives and technical expertise, in accordance with pro- cedures approved by the National Academies’ 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 quality and objectivity. 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: Timothy Aitman, Imperial College, London; Naomi Aronson, Blue Cross and Blue Shield Association Technology Evaluation Center; Henry Greely, Stanford University; Bernard Lo, University of Califor- nia, San Francisco; Channing Robertson, Stanford University; and Fay Shamanski, College of American Pathologists. Although the reviewers listed above have provided many construc- tive comments and suggestions, they were not asked to endorse the con- tent of the report, nor did they see the final draft before its release. The review of this report was overseen by Enriqueta Bond, President Emeri - tus, Burroughs Wellcome Fund. Appointed by the National Academies, 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.

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Contents INTRODUCTION 1 SCIENTIFIC FOUNDATIONS FOR DIRECT-TO- CONSUMER GENETIC TESTING 7 Genomic Associations 7 Analytic and Clinical Validity and Clinical Utility 9 Questions Raised for Further Discussion 12 PERSONAL AND SOCIAL ISSUES 13 Privacy 13 Public Awareness, Understanding, and Education 16 Questions Raised for Further Discussion 18 RESEARCH AND MEDICAL ISSUES 19 Human Research Subjects, Institutional Review Boards, and Informed Consent 20 Questions Raised for Further Discussion 22 IMPACT ON HEALTH CARE AND PUBLIC HEALTH 23 Economics 23 Physician Awareness and Education 24 Genetic Counseling 28 Questions Raised for Further Discussion 29 xi

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xii CONTENTS CURRENT LEGISLATIVE AND REGULATORY FRAMEWORK IN THE UNITED STATES 31 Federal Legislation Relevant to Direct-to-Consumer Genetic Testing 31 Regulating Direct-to-Consumer Genetic Testing at the Federal Level 33 Questions Raised for Further Discussion 35 AREAS FOR FURTHER STUDY 37 APPENDIXES A GLOSSARY OF TERMS AND ACRONYMS 43 B REGULATION OF DIRECT-TO-CONSUMER GENETIC TESTING OUTSIDE THE UNITED STATES 47 C CURRENTLY AVAILABLE DIRECT-TO-CONSUMER GENETIC TESTS 51 D REPRESENTATIVE DIRECT-TO-CONSUMER GENETIC TESTING COMPANIES 55 E PLANNING GROUP BIOGRAPHIES 57 F WORKSHOP AGENDA 71 G WORKSHOP PARTICIPANTS 79 H MEMBERSHIP OF OVERSIGHT BOARDS AND COMMITTEES 83