Below is the uncorrected machine-read text of this chapter, intended to provide our own search engines and external engines with highly rich, chapter-representative searchable text of each book. Because it is UNCORRECTED material, please consider the following text as a useful but insufficient proxy for the authoritative book pages.
BOARD ON HEALTH SCIENCES POLICY Roundtable on Translating Genomic-Based Research for Health 2012 Annual Report
Message from the Co-Chairs Wylie Burke and Sharon F. Terry The potential of genomics to improve health care is becoming a reality. New molecular tools are now being used to diagnose disease, predict the potential for adverse events, reduce the use of unnecessary medical services, and tailor therapeutic regimens. As genomic medicine is implemented further, it holds tremen- dous potential to enable the health care system to provide better care at a lower cost. However, many important questions must be addressed to ensure that this new technology is used responsi- bly. Decreasing genome sequencing costs and innovative science have placed genomics and related molecular tools at the center of biomedical research; but translation into health care applications remains difficult due to a currently underdeveloped evidence base, a misalignment between basic research and clinical needs, and the lack of a robust knowledge generating system that incor- porates genomic information from both basic and clinical research. Overcoming these obstacles is not an easy task, but the Roundtable on Translating Genomic-Based Research for Health provides an opportunity for strategic thinking and action to solve these paramount issues. As a forum for academia, industry, advocacy and provider groups, government, and others, we stimulate discussion, press to clarify complex concepts, and seek pathways to solutions. In 2012, the Roundtable sponsored workshops and meetings on developing precision therapeutics, demonstrating clinical utility for molecular diagnostics in oncology, the economics of genomic medicine, sharing clinical research data, and improving the translation of genome-based research. Essential to our process is discourse that allows all perspectives to be voiced, with special attention given to clarifying competing views and the identification of actions and strategies for resolving issues. Our agenda for 2013 will include further exploration of these important topics, with a focus on practical innovations in the area of data sharing. We will be sponsoring a workshop on conflict of interest, because these policies are important in accelerating innovation; focusing on the co-development of therapeutics and diagnostics; and exploring genome-based strategies for drug repurposing. We look forward to a productive year with the participation of all stakeholders. Sincerely, Wylie Burke, M.D., Ph.D. Sharon F. Terry, M.A. Co-Chair Co-Chair
Reflecting Back: Roundtable Activities in 2012 Reflecting Back Roundtable Activities in 2012 Roundtable Meetings Roundtable members met three times in 2012 to continue their discussions on emerg- ing and enduring issues in advancing the field of genomics. Meeting topics that were discussed included ongoing efforts to develop a genetic variant database, stressors on the health care system, systems approaches to identifying and overcoming inefficien- cies in translating basic genomic discoveries, access to medicines, and grand chal- lenges in genomics. 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 the total spending on health-related research and development has tripled since 1990. There are many theories about the causes of this trend, including increased regulatory barriers, rising costs of scientific inquiry, and 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 hosted a public workshop to investigate how genetic and genomic information is currently being used and how it will be used in the future to improve the process of drug development. The goal of the workshop was to examine the current investment in, use of, and utility of genetic and genomic data in drug development strategies. The presentations and discussions explored various aspects of the issue, including target identification, clinical trial design, strategic partnerships, and the use of emerging technologies such as next-generation sequencing. The workshop also investigated the economic drivers, incentives, and models that use genomics in drug develop- ment and featured an array of stakeholders, including leaders from academia, industry, and government organizations.
Evidence for Clinical Utility of Molecular Diagnostics in Oncology: A Workshop (May 24, 2012) Since the sequencing of the human genome, an ever-growing number of linkages between specific genetic variants and diseases have been identified. These findings have been trans- lated into molecular diagnostic tests that are used today in a variety of settings, from predict- ing the risk of developing Alzheimerâs to determining targeted therapeutic treatment options for cancer patients. However, there are questions regarding the clinical value of many of these tests and so far relatively few have been adopted into clinical practice. A major limiting factor for the use of these tests has been the lack of clear evidence of clinical utility. Confounding this issue is that there is no consensus among stakeholders regarding the type of evidence, the methodology to collect it, or the level of evidence that is needed to move a test into clini- cal practice. Capturing the benefits of molecular diagnostics will require stakeholders to help shape and define methodologies for efficiently generating reliable information about which tests have value and in what patient groups they should be utilized. Sustained dialogue among stakeholders is needed to help close the current evidence gap and foster the develop- ment of clinically valuable tests. The Roundtable co-hosted a workshop with the Center for Medical Technology Policy to discuss research methodologies related to demonstrating and assessing the clinical validity and utility of molecular diagnostics for oncology. The presenta- tions and discussions explored the challenges in and identified potential opportunities for advancing the development and use of molecular diagnostic tests for guiding the treatment and management of oncology patients. Stakeholders, including patients, health care provid- ers, policy makers, payers, diagnostic test developers, guideline developers, and others were invited to present their perspectives. 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 genomic-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 cer- tainty and some stakeholders are concerned that genomic technologies will simply add cost to the health care system without providing significant benefit to patients. To better understand 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
the health economic issues that may arise in the course of integrating genomic data Reflecting Back: Roundtable Activities in 2012 into health care, the Roundtable hosted a workshop that brought together economists, regulators, payers, biomedical researchers, patients, providers, and other stakeholders to discuss the many factors that may influence this implementation. Sharing Clinical Research Data: A Workshop (October 4-5, 2012) Pharmaceutical companies, academic institutions, and government agencies hold large quantities of clinical research data. Much of this information, however, is never published or is statutorily restricted from being made publicly available. Data sharing within and across sectors could facilitate scientific and public health advances and could enhance the analysis of safety and efficacy. The Roundtable and three Institute of Medicine (IOM) forumsâthe Forum on Drug Discovery, Development, and Translation; the Forum on Neuroscience and Nervous System Disorders; and the National Cancer Policy Forumâjointly conducted a public work- shop that focused on strategies to facilitate the sharing of clinical research data. Participants included members of industry, academia, government agencies such as the Food and Drug Administration (FDA) and the National Institutes of Health, disease advocacy groups, and other stakeholders. The workshop featured invited presentations and discussions that examined the benefits of and barriers to sharing clinical research data, specifically clinical trial data, and strategies for enhancing sharing within and among sectors to facilitate the research and development of effective, safe, and needed products. Improving the Efficiency and Effectiveness of Genomic Science Translation: A Workshop (December 3, 2012) Most of the anticipated health care development that was predicted at the comple- tion of the Human Genome Project has 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 between these sectors, the Roundtable held a workshop to examine how basic sci- ence can best be positioned to foster the successful translation of early discoveries. 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 2013 Roundtable Meetings Roundtable members will meet on February 28, June 25, and December 4-5, 2013. Meeting topics to be discussed include evidence; governance; developing a knowledgeable health care system for genomics; and education, engagement, and cultural change. Refining Processes for the Co-Development of Genome-Based Therapeutics and Companion Diagnostic Tests: A Workshop (February 27, 2013) Genome information can identify new drug targets for both common and rare diseases, can identify patients who are likely to respond to a specific treatment, and has the potential to significantly reduce the cost of clinical trials by reducing the number of patients that must be enrolled to demonstrate safety and efficacy. Recently, benefits such as these have led to the development and approval of a number of targeted therapeutics for diseases such as non- small-cell lung cancer, metastatic melanoma, and cystic fibrosis. A key component of each of these new drug approvals is the ability to identify the population of patients who will benefit from treatment, and this has largely hinged on the co-development and co-submission to the FDA of a companion molecular test. This has led to a major alteration in the way drugs are developed, with tra- ditionally separate entitiesâ pharmaceutical and diagnostic companiesânow working in close collaboration. Although these early co-development successes have bolstered the industry and demonstrated to some extent the efficacy of a genome-based approach to 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
drug discovery and devel- Looking Forward: Roundtable Activities in 2013 opment, the convergence has not been without con- troversy. Questions remain regarding the economic viability of co-development for diagnostics, payer reim- bursement for companion tests and off-label use of these drugs, substitution of non-FDA-approved tests, challenges in changing technologies for an existing companion diagnostic, need for multiple tests for ever smaller diagnostic tissue specimens, and many others. The Roundtable will host a workshop to examine the challenges of and potential solutions for the co-development of molecular tests and targeted therapeutics. Genomics-Enabled Drug Repurposing and Repositioning: A Workshop (June 24, 2013) The path of drug development can be expensive and time consuming. Recent estimates predict, on average, an expenditure of at least $1 billion and a time frame of 10 years to bring a drug to the U.S. market. Although spending on drug research has increased, the number of drugs approved by the FDA, on average, has not. In response, pharmaceutical companies are examin- ing options to either give drugs not commercially available a new chance at approval or search for new indications for existing drugs. Technological advances and the increasing availability of genomic data and computational systems have resulted in new methods to systematically iden- tify both drug targets and pathways for detecting drugs with secondary, oftentimes seemingly unrelated, indications. The Roundtable will host a workshop to assess the current landscape of drug-repurposing activities in industry, academia, and government; examine enabling tools and technology; and evaluate the business models and economic incentives for drug-repurposing programs. Stakeholders, including government officials, pharmaceutical company representa- tives, academic researchers, regulators, funders, and patients, will be invited to present their perspectives and participate in discussions during the workshop. 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 was established by the Roundtable to focus on issues related to the develop- ment 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. 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 2012 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 collaborative research paradigms to advance drug development, data sharing, biospecimen resources, and genomic and genetic strategies for drug discov- ery and development. Diagnostic Applications The Roundtable established the Diagnostic Applications working group to discuss issues related to the development and use of molecular diagnostics. Genome-Based Diagnostics: This group has focused its discussions on three key Clarifying Pathways to Clinical Use: elements in the development and adoption of clini- Workshop Summary cally useful genome-based diagnostic applications: evidence gaps, regulatory policy, and reimbursement for genomic tests. Overview Group This working group was established by the Roundtable to examine issues that are overarching and crosscutting for all members and stakeholder groups. Members of this working group also coordi- nate timely responses to emerging issues within the field where input from the Roundtable would be of significant value to larger public discussions. Genome-Based Therapeutics: Targeted Drug Discovery and Development: Workshop Summary 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 2012) Wylie Burke, M.D., Ph.D. (Co-Chair) Richard Hodes, M.D. Joan A. Scott, M.S., C.G.C. University of Washington National Institute on Aging National Coalition for Health Sharon Kardia, Ph.D. Professional Education in Genetics Sharon Terry, M.A. (Co-Chair) Genetic Alliance University of Michigan School David Veenstra, Pharm.D., Ph.D. of Public Health University of Washington Naomi Aronson, Ph.D. Blue Cross and Blue Shield Mohamed Khan, M.D., Ph.D. Michael S. Watson, Ph.D. Association American Medical Association American College of Medical Genetics Muin Khoury, M.D., Ph.D. and Genomics Euan Ashley, M.R.C.P., D.Phil., FACC, FAHA Centers for Disease Control and Lt. Col. Daniel Wattendorf, M.D. American Heart Association Prevention Department of the Air Force Paul R. Billings, M.D., Ph.D. Thomas Lehner, M.P.H., Ph.D. Catherine A. Wicklund, M.S., C.G.C. Life Technologies Corporation National Institute of Mental Health National Society of Genetic Counselors Bruce Blumberg, M.D. Debra Leonard, M.D., Ph.D. Kaiser Permanente College of American Pathologists Roundtable Staff Denise E. Bonds, M.D., M.P.H. Elizabeth Mansfield, Ph.D. Food and Drug Administration Adam C. Berger, Ph.D. National Heart, Lung, and Project Director Blood Institute Kelly McVearry, Ph.D. Northrop Grumman Health IT Sean P. David, M.D., D.Phil. Philip J. Brooks, Ph.D. James C. Puffer, M.D./American Board Office of Rare Diseases Research Robert L. Nussbaum, M.D. of Family Medicine Fellow, Stanford C. Thomas Caskey, M.D., FACP University of California, San Francisco, University School of Medicine Baylor College of Medicine School of Medicine Lindsey Mette, M.S., M.Sc.P.H. Sara Copeland, M.D. Michelle Ann Penny, Ph.D. Christine Mirzayan Science and Health Resources and Services Eli Lilly and Company Technology Policy Graduate Fellow Administration Aidan Power, M.B., B.Ch., M.Sc., (August to November 2012) Michael J. Dougherty, Ph.D. M.R.C.Psych. Claire Giammaria, M.P.H. American Society of Human Genetics Pfizer Inc. Research Associate (until July 2012) Victor Dzau, M.D. Victoria M. Pratt, Ph.D., FACMG Tonia Dickerson Duke University Health System Quest Diagnostics Nichols Institute Senior Program Assistant W. Gregory Feero, M.D., Ph.D. Ronald Przygodzki, M.D. Journal of the American Medical Department of Veterans Affairs Association Allen D. Roses, M.D. Board on Health Sciences Duke University Policy Staff Andrew N. Freedman, Ph.D. National Cancer Institute Kevin A. Schulman, M.D. Andrew M. Pope, Ph.D. Geoffrey Ginsburg, M.D., Ph.D. Duke University Director Duke University 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 May 24 October 4-5 March 22 July 18 December 4 Meeting 16 Evidence for Clinical Utility of Molecular Meeting 17 Sharing Clinical Research Meeting 18 Diagnostics in Oncology Workshop Data Workshop
Roundtable Sponsors Roundtable Members and Sponsorship (as of December 2012) American College of Medical Genetics and Genomics American Heart Association American Medical Association Patient Advocacy American Society of Human Genetics Foundations and Associations 4% Blue Cross and Blue Shield Association Centers for Disease Control and Prevention 28% College of American Pathologists 40% Government Department of the Air Force Department of Veterans Affairs Eli Lilly and Company 24% Genetic Alliance 4% Health Resources and Services Administration Johnson & Johnson Industry Kaiser Permanente/East Bay Community Foundation Miscellaneous Nonprofit 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 Northrop Grumman Health IT Office of Rare Diseases Research Pfizer Inc. February 27 Refining Processes for the Co-Development of Genome-Based June 24 Therapeutics and Companion Genomics-Enabled Drug Repurposing December 4-5 Diagnostic Tests Workshop and Repositioning Workshop Meeting 21 2014 February 28 June 25 Meeting 19 Meeting 20
About the Roundtable on Translating Genomic-Based Research for Health The IOMâs 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 innovations have produced a diversity of new issues to be addressed, including issues such as evidence of utility, economic implications, equal access, and public perspectives. 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 facilitates collaboration among stakeholders. To achieve its objectives, the Roundtable conducts structured discussions, 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. 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.
