DIRECT-TO-CONSUMER GENETIC TESTING
Summary of a Workshop
Mary Fraker and Anne-Marie Mazza, Rapporteurs
INSTITUTE OF MEDICINE AND
NATIONAL RESEARCH COUNCIL
OF THE NATIONAL ACADEMIES
THE NATIONAL ACADEMIES PRESS
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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. The members of the committee responsible for the report were chosen for their special competences and with regard for appropriate balance.
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THE NATIONAL ACADEMIES
Advisers to the Nation on Science, Engineering, and Medicine
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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 University 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 individuals 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-
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. Existing 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-throughput 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 diseases facing humankind today have a genetic component—usually involving 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 diagnosticians, and new approaches to communicating findings to the public. As this rapidly growing field matures, all of these questions require attention 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-makers 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 stakeholders 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 technical, legal, policy, and ethical questions that such DTC testing raises,7 including: (1) overview of the current state of knowledge and the future research trajectory; (2) shared genes and emerging issues in privacy;
(3) the regulatory framework; and (4) education of the public and the medical community.
This workshop summary has been prepared by the workshop rapporteurs 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 workshop participants, the planners of the workshop, or the National Academies.
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, Harvard Medical School and Senior Vice President, Research, Brigham and Women’s Hospital; and members Joseph Fraumeni, Jr., Director, Division of Cancer Epidemiology and Genetics, National Cancer Institute; Patricia Ganz, Professor of Health Services, School of Public Health and Professor of Medicine, David Geffen School of Medicine, University of California, Los Angeles; Mikhail Gishizky, Chief Scientific Officer, Entelos, Inc.; Alberto Gutierrez, Deputy Director for New Product Evaluation, 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 Disease Control and Prevention; David Korn, Vice Provost for Research, Harvard University; and Jonathan Moreno, David and Lyn Silfen University Professor, Center for Bioethics, University of Pennsylvania 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, Division of Clinical Sciences, Imperial College London; Susannah Baruch, Policy Director, Generations Ahead and Policy Analyst, Genetics and Public Policy Center, Johns Hopkins University; K. David Becker, Chief Scientific Officer, Pathway Genomics Corporation; Andrea Ferreira-Gonzalez, Professor of Pathology, Virginia Commonwealth University and Director, The Molecular Diagnostics Labo-
ratory, Virginia Commonwealth University Health System; Harvey Fineberg, President, Institute of Medicine; Katrina Goddard, Senior Investigator, 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, Acting Director of the Division of Chemistry and Toxicology Devices, Office of In Vitro Diagnostic Device Evaluation and Safety, Center for Devices and Radiological Health, U.S. Food and Drug Administration; Gregory Kutz, Managing Director, Forensic Audits and Special Investigations, Government Accountability Office; Sandra Soo-Jin Lee, Senior Research Scholar, Stanford Center for Biomedical Ethics; Elissa Levin, Director, Genetic Counseling Program, Navigenics, Inc.; Joseph McInerney, Executive Director, National Coalition for Health Professional Education in Genetics; Kathryn Phillips, Professor of Health Economics and Health Services Research, University of California, San Francisco; Scott Woodward, 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 procedures 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 California, San Francisco; Channing Robertson, Stanford University; and Fay Shamanski, College of American Pathologists.
Although the reviewers listed above have provided many constructive comments and suggestions, they were not asked to endorse the content of the report, nor did they see the final draft before its release. The review of this report was overseen by Enriqueta Bond, President Emeritus, 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.