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BOARD ON HEALTH SCIENCES POLICY Roundtable on Translating Genomic-Based Research for Health 2011 Annual Report
About the Genomics Roundtable The Institute of Medicineâs Roundtable on Translating Genomic-Based Research for Health brings together leaders from academia, industry, government, foundations, associations, and representatives of patients and consumers who have a mutual interest in addressing the issues surrounding the translation of genomic-based research. The purpose of the Roundtable is to explore and implement strategies for improving health through the translation of genomic and genetic research findings into medicine, public health, education, and policy. Translating genomic innovations involves many disciplines, and takes place within different economic, social, and cultural contexts, generating a need for increased communication and understanding across these fields. Furthermore, these innova- tions have produced a diversity of new issues to be addressed, including issues such as evidence of utility, economic implications, equal access, and public perspec- tives. As a convening mechanism for interested parties with different perspectives to meet and discuss complex issues of mutual concern in a neutral setting, the Roundtable fosters dialogue across sectors and institutions and fosters collaboration among stakeholders. The priorities and areas of emphasis for the Roundtable include (1) issues related to the translation of genomics into medicine and public health; (2) issues related to the evolving requirements for the health professional community and the need to be able to understand and responsibly apply genomics to medicine and public health; and (3) ethical, legal, and social issues such as the potential for misuse of genetic information; the medical implications for family members; and the rights of an individual, family, or community to control the use and dissemination of genetic information. To achieve its objectives, the Roundtable conducts structured dis- cussions, workshops, and symposia, and publishes workshop summaries. Specific issues and agenda topics are determined by the Roundtable membership and span a broad range of issues relevant to the translation process. For more information about the Roundtable on Translating Genomic-Based Research for Health, please visit our website at www.iom.edu/genomicroundtable or call Adam Berger at (202) 334-3756.
Message from the Chair Genomic research continues to advance at a rapid pace, offering new possibilities in research and clinical medicine. Yet many questions remain about how to deploy genomics most effectively and how to evaluate the benefits and harms of new genomic technology. The Roundtable on Translating Genomic-Based Research for Health offers a unique venue for experts from academia, industry, patient and provider groups, government, and others to collaborate in addressing challenging issues in the translation of genomics-based research findings. Our goal is to stimulate honest and frank discussion among members and outside experts, to clarify barriers to effective translation, and promote partnerships that will expe- dite the benefits of genomic research. During this past year, the Roundtable sponsored workshops and meetings addressing sev- eral critical areas in the translation of genomics findings, including the potential risks and benefits of whole genome sequencing in clinical care; clarifying regulatory and reimburse- ment pathways for genomic tests; and the potential for genomic tools to enhance drug discovery. Each activity brought together diverse stakeholder views and explored contro- versies and common ground as well as potential solutions for advancing the field. Our agenda for 2012 will include further exploration of these important topics. In addition, we will consider barriers to moving the findings of basic genome science into translational research; challenges in education and public engagement; and innovative approaches to partnership. We look forward to continuing the work of the Roundtable and helping to identify the pathways, strategies, and partnerships that can help progress the field toward the promise of genomics. Sincerely, Wylie Burke, M.D., Ph.D. Professor and Chair Department of Bioethics & Humanities University of Washington
Reflecting Back Roundtable Activities in 2011 Roundtable Meetings The Roundtable members met three times in 2011 to continue their discussions on emerging and enduring issues to advance the field of genomics. Meeting topics discussed during the February 22-23 meeting included (1) the economics of indi- vidualized medicine; (2) integrating large-scale genomic information into health information technology systems; and (3) the role of interdisciplinary communication in facilitating the use of large-scale genomic information in clinical practice. The topic addressed during the July 20 Roundtable meeting was regulatory science and its role in the translation of research findings and drug and diagnostic device devel- opment. The November 16 meeting featured the following three discussions: (1) the Patient-Centered Outcomes Research Institute: A Conversation with Joe Selby; (2) the Presidential Commission for the Study of Bioethical IssuesâGenes to Genomes: Collection, Use, and Governance of Human Genome Sequence Data; and (3) ethical concepts in genomics research. Integrating Large-Scale Genomic Information into Clinical Practice: A Workshop (July 19, 2011) As DNA sequencing technology becomes more refined, costs continue to drop, and clinical applications increase for genomic and genetic analyses, the integration of this new technology into practice is inevitable. However, the large amount of patient- specific data that are generated through large-scale genomic analysis pose a number of questions and challenges for integrating this information into the current health care system. Solutions will need to be devised regarding the storage, access, and portability of these genetic data. Relevant information will need to be extracted and deposited into the medical record in a clinically comprehensible manner. The analysis of this information, and re-analysis as new findings emerge, will put further constraints and burdens on health care practitioners in a system that currently lacks a mechanism December 4 Diffusion and Use of Genomic July 11-12 Innovations in Health and Meeting 1 Medicine Workshop ROUNDTABLE TIMELINE 2007 December 5 Meeting 2
to reimburse for these activities. Additionally, there is a lack of understanding and Reflecting Back: Roundtable Activities in 2011 training for patients and health care providers on the potential impact genetic and genomic discoveries can have for treatment course and health. Ethical issues such as informed consent and stewardship over this information will also have to be consid- ered as integration moves forward. With these questions and issues in mind, the Roundtable hosted a workshop to explore and examine potential solutions for inte- grating large-scale genomic information into clinical practice with respect to the analysis, interpretation, and delivery of genomic information. Stakeholders, including bioinformaticists, clinical investigators, health care providers, patient advocacy groups, payers, policy makers, and public health professionals presented their perspectives. Facilitating the Development and Utilization of Genome-Based Diagnostic Technologies: A Workshop (November 15, 2011) The sequencing of the human genome and the identification of links between specific genetic variants and disease formation have led to an explosion of genome-based diag- nostic tests that have the potential to direct therapeutic interventions or predict the onset of disease. However, the current adoption of genomic diagnostic tests into prac- tice by providers has been limited due to a lack of evidence of clinical utility. Thus, 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. In part, this lack of evidence and usage has led to what has been termed a âvicious cycleâ of undervaluation, with test developers producing either no or low evidence of clinical utility, followed by limited usage by providers and little reimbursement by payers. This undervaluation by all groups results in limited resources for developers to produce the evidence desired by various stakeholders and a perpetual continu- ation of the cycle. The Roundtable hosted a workshop to identify challenges and potential opportunities to advance the development and use of genomic diagnostic tests through research, reimbursement, and regulatory policy. Stakeholders, includ- ing diagnostic test developers, payers, policy makers, health care providers, patient advocacy groups, investors, and others presented their perspectives. July 28 April 1-2 Innovations in Service Delivery Meeting 3 in the Age of Genomics Workshop 2008 2008 July 29 Meeting 4
Looking Forward Roundtable Activities in 2012 Roundtable Meetings The Roundtable members will meet on March 22, July 18, and December 4, 2012. Meeting topics to be discussed include ongoing efforts to develop a genetic variant database, align- ing basic genomic research for more efficient and effective translation, and challenges for targeted therapeutics development. New Paradigms in Drug Discovery: How Genomic Data Are Being Used to Revolutionize the Drug Discovery and Development Process: A Workshop (March 21, 2012) New drug approvals have remained reasonably steady for the past 50 years while at the same time the total spending on health-related research and development has tripled since 1990. There are many suspected causes for this trend, including increased regulatory barriers, the rising costs of scientific inquiry, and the lack of production models that have successfully incorporated new technology. Regardless of the cause, this trajectory is not economically sustainable, and in response many companies are turning toward collaborative models of drug development. The Roundtable will host a public workshop to investigate how genetic and genomic information is currently being used and will be used in the future to improve the February 12 October 6-7 Systems for Research and Evaluation for Translating Meeting 5 Genome-Based Discoveries for Health Workshop 2009 February 13 June 9-11 Meeting 6 Meeting 7
process of drug discovery and development. The goal of the workshop is to examine the cur- Looking Forward: Roundtable Activities in 2012 rent investment in, use, and utility of genetic and genomic data to improve these processes. The presentations and discussions will explore various aspects of the issue, including target iden- tification, clinical trial design, strategic partnerships, and the use of emerging technologies, such as next generation sequencing. The workshop will also investigate the economic drivers, incentives, and models that use genomics in drug development and will feature an array of stakeholders, including leaders from academia, industry, and governmental organizations. Assessing the Economics of Genomic Medicine: A Workshop (July 17-18, 2012) The sequencing of the human genome and the identification of links between specific genetic variants and disease formation have led to an explosion of genomics-based innovation and technology and the advent of genomic medicine. These advancements have the ability to direct patient treatment toward more effective or less harmful options and potentially to reduce health care costs caused by unnecessary or ineffective treatments. However, this is not a certainty and some stakeholders are concerned that genomic technologies will simply be cost additive to the health care system without providing significant benefit to patients. In order to better forecast the costs and benefits of integrating genetic and genomic information into clini- cal practice, the Roundtable will host a workshop that will bring economists, regulators, payers, and providers together to analyze three scenariosâpreconception care, a deep vein thrombosis and pulmonary embolism event, and directing cancer careâwhere genomic information can be utilized for clinical decision making. The various factors that influence costs will be identified and discussed along with alternative models of implementation. The goal of the workshop will be to advance discussions around the clinical integration of genomic applications. Improving the Efficiency and Effectiveness of Genomic Science Translation: A Workshop (December 3, 2012) The anticipated health care developments that were predicted at the completion of the Human Genome Project have not, for the most part, culminated in products or processes that are used in medical settings. This lack of translation between basic genome science and clinical research has frustrated many scientists, health care practitioners, investors, policy makers, and patients. Recognizing the growing divide among these sectors, the Roundtable will hold a workshop to examine how basic science can best be positioned to foster success- ful translation of early discoveries. August 31-September 1 March 22 Direct-to-Consumer Genetic The Value of Genetic and Genomic Testing Workshop Technologies Workshop 2010 November 16-17 March 23 Meeting 8 Meeting 9
Working Groups Four working groups have been established within the Roundtable to examine various topics and aspects of translating genomic information into appreciable health care applications. Each group meets regularly by teleconference as well as in person at Roundtable meetings. Together they discuss issues of mutual interest to the group as well as suggest, plan, and complete Roundtable workshops, seminars, and commissioned papers. Clinical Practice and Public Health This working group focuses on issues related to the development and implementation of genetic and genomic technologies in clinical and public health practice. Members examine issues such as the economic impact of genomic medicine, the educational needs of the health care workforce, and the intersection between bioinformatics and clinical practice. The group is currently planning a work- shop to examine the various factors that influence the economics of integrating genetic and genomic information into clinical practice so that benefits can be maximized. May 24 Challenges and Opportunities November 17 in Using Newborn Screening Generating Evidence for Samples for Translational July 23 Genomic Diagnostic Test February 22-23 Research Workshop; Meeting 10 Meeting 11 Development Workshop Meeting 13 2011 July 22 November 18 Establishing Precompetitive Collaborations to Stimulate Meeting 12 Genomics-Driven Drug Development Workshop
Drug Development Informed by Genetics Reports Released in 2011 Working Groups and Genomics The Roundtable established a working group to examine the drug discovery and development process. This group focuses on topics such as using collabora- Direct-to-Consumer tive research paradigms to advance drug development, Genetic Testing: data sharing, biospecimen resources, and genomic and Summary of a Workshop genetic strategies for drug discovery and development. The group is currently planning a workshop to investi- gate the economic drivers, incentives, and models that use genomics in drug development. Diagnostic Applications The Roundtable established the Diagnostic Generating Evidence for Applications working group to discuss issues related to Genomic Diagnostic Test Development: Workshop the development and use of molecular diagnostics. This Summary group has focused its discussions on three key elements in the development and adoption of clinically useful genome-based diagnostic applications: evidence gaps, regulatory policy, and reimbursement for genomic tests. Overview Group Integrating Large-Scale This working group was established by the Roundtable Genomic Information to examine issues that are overarching and crosscut- into Clinical Practice: ting for all the members and groups. Members also Workshop Summary coordinate timely responses to emerging issues within the field where input from the Roundtable would be of significant value to larger public discussions. Currently, the members of this group are planning the December 2012 workshop that will attempt to identify how the translational process between basic genome science and medicine can be improved. July 19 November 15 Integrating Large-Scale Facilitating Development and Genomic Information into Utilization of Genome-Based Clinical Practice Workshop Diagnostic Technologies Workshop 2012 July 20 November 16 Meeting 14 Meeting 15
Roundtable Members (as of December 2011) Wylie Burke, M.D., Ph.D. (Chair) Muin Khoury, M.D., Ph.D. Martha Turner, Ph.D., R.N., B.C., University of Washington Centers for Disease Control and C.N.A.A. Prevention American Nurses Association Naomi Aronson, Ph.D. Thomas Lehner, Ph.D., M.P.H. Michael S. Watson, Ph.D. Blue Cross and Blue Shield National Institute of Mental Health American College of Medical Association Debra Leonard, M.D., Ph.D. Genetics and Genomics Paul R. Billings, M.D., Ph.D. College of American Pathologists Lt. Col. Daniel Wattendorf, M.D. Life Technologies Corporation Michele Lloyd-Puryear, M.D., Ph.D. Department of the Air Force Bruce Blumberg, M.D. Office of Rare Diseases Research Catherine A. Wicklund, M.S., C.G.C. Kaiser Permanente Elizabeth Mansfield, Ph.D. National Society of Genetic Denise E. Bonds, M.D., M.P.H. Food and Drug Administration Counselors National Heart, Lung, and Blood Institute Garry Neil, M.D. Johnson & Johnson Roundtable Staff C. Thomas Caskey, M.D., FACP Baylor College of Medicine Robert L. Nussbaum, M.D. Adam C. Berger, Ph.D. University of California, San Francisco, Project Director Sara Copeland, M.D. School of Medicine Health Resources and Services Sean David, M.D., D.Phil. Administration Michelle Ann Penny, Ph.D. James C. Puffer, M.D./American Board Eli Lilly and Company of Family Medicine Fellow, Stanford W. Gregory Feero, M.D., Ph.D. University School of Medicine National Human Genome Research Aidan Power, M.B., B.Ch., M.Sc., Institute M.R.C.Psych. Sarah H. Beachy, Ph.D. Pfizer Inc. Christine Mirzayan Science and Andrew N. Freedman, Ph.D. Technology Policy Graduate Fellow National Cancer Institute Victoria M. Pratt, Ph.D., FACMG Quest Diagnostics Nichols Institute (August to November 2011) Geoffrey Ginsburg, M.D., Ph.D. Claire Giammaria, M.P.H. Duke University Ronald Przygodzki, M.D. Department of Veterans Affairs Research Associate Richard Hodes, M.D. Tonia Dickerson National Institute on Aging Allen D. Roses, M.D. Duke University Senior Program Assistant Sharon Kardia, Ph.D. University of Michigan School Kevin A. Schulman, M.D. of Public Health Duke University Board on Health Sciences Joan A. Scott, M.S., C.G.C. Policy Staff Mohamed Khan, M.D., Ph.D. American Medical Association National Coalition for Health Andrew M. Pope, Ph.D. Professional Education in Genetics Director Sharon Terry, M.A. Genetic Alliance March 21 New Paradigms in Drug Discovery: December 3 How Genomic Data Are Being Used July 17-18 Improving the Efficiency and to Revolutionize the Drug Discovery Assessing the Economics of Effectiveness of Genomic Science and Development Process Workshop Genomic Medicine Workshop Translation Workshop 2013 March 22 July 18 December 4 Meeting 16 Meeting 17 Meeting 18
Roundtable Sponsors Roundtable Members and Sponsorship American College of Medical Genetics and Genomics American Medical Association American Nurses Association Blue Cross and Blue Shield Association Centers for Disease Control and Prevention College of American Pathologists Department of the Air Force Department of Veterans Affairs Eli Lilly and Company Genetic Alliance Health Resources and Services Administration Johnson & Johnson Kaiser Permanente/East Bay Community Foundation Life Technologies Corporation National Cancer Institute National Coalition for Health Professional Education in Genetics National Heart, Lung, and Blood Institute National Human Genome Research Institute National Institute of Mental Health National Institute on Aging National Society of Genetic Counselors Office of Rare Diseases Research Patient Advocacy Pfizer Inc. Foundations and 4% Associations 26% 44% Government 22% 4% Industry Miscellaneous Nonprofit
The Institute of Medicine serves as adviser to the nation to improve health. Established in 1970 under the charter of the National Academy of Sciences, the Institute of Medicine provides independent, objective, evidence-based advice to policy makers, health professionals, the private sector, and the public. The mission of the Institute of Medicine embraces the health of people everywhere.
