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ABOUT THE ROUNDTABLE MEMBERSHIP The Institute of Medicine Roundtable on Translating Genomic-Based Research for Health brings Membership of the Roundtable includes a diverse range of stakeholders, including government, the pharmaceutical together leaders from academia, industry, government, foundations, and associations who have a industry, academic health centers, researchers, associations, patient advocates, and others. mutual interest in addressing the issues surrounding the translation of genomic-based research. The mission of the Roundtable is to advance the field of genomics and improve the translation of research findings to health care, education, and policy. WYLIE BURKE, M.D., Ph.D. (Chair) GARRY NEIL, M.D. Translating genomic innovations involves many disciplines, and takes place within different economic, University of Washington Johnson & Johnson 2 0 0 8 -2 0 0 9 A N N U A L R E P O R T social, and cultural contexts, generating a need for increased communication and understanding ROBERT L. NUSSBAUM, M.D. BRUCE BLUMBERG, M.D. across these fields. Furthermore, these innovations have produced a diversity of new issues to be Kaiser Permanente University of California, San Francisco, School of Medicine addressed, including issues such as evidence of utility, economic implications, equal access, and pub- lic perspectives. As a convening mechanism for interested parties from different perspectives to meet C. THOMAS CASKEY, M.D., F.A.C.P. KIMBERLY J. POPOVITS and discuss complex issues of mutual concern in a neutral setting, the Roundtable fosters dialogue across sectors and institutions and fosters collaboration among stakeholders. University of Texas Health Science Center at Houston Genomic Health, Inc. AIDAN POWER, M.B., B.Ch., M.Sc., M.R.C.Psych. Pfizer, Inc. ROUNDTABLE ON STEPHEN ECK, M.D., Ph.D. To achieve its objectives, the Roundtable conducts structured discussions, workshops, and sympo- TRANSLATING Eli Lilly and Company sia, and publishes workshop summaries. Specific issues and agenda topics are determined by the RONALD PRZYGODZKI, M.D. Roundtable membership and span a broad range of issues relevant to the translation process. FAITH T. FITZGERALD, M.D., MACP Department of Veterans Affairs SPONSORSHIP American College of Physicians AMELIE G. RAMIREZ, Dr.P.H. 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 American College of Medical Genetics Genomic Health, Inc. ANDREW N. FREEDMAN, Ph.D. National Cancer Institute University of Texas Health Science Center at San Antonio GENOMIC-BASED public. The mission of the Institute of Medicine embraces the health of people everywhere. American College of Physicians Human Resources and Services Administration GEOFFREY GINSBURG, M.D., Ph.D. LAURA LYMAN RODRIGUEZ, Ph.D. ROUNDTABLE STAFF American Medical Association American Nurses Association Johnson & Johnson Kaiser Permanente Duke University R. RODNEY HOWELL, M.D. National Human Genome Research Institute ALLEN D. ROSES, Ph.D. Duke University RESEARCH AstraZeneca Pharmaceuticals, Inc. National Cancer Institute National Institute of Child Health and LYLA M. HERNANDEZ Director BlueCross/BlueShield Association Centers for Disease Control and Prevention National Heart, Lung, and Blood Institute National Human Genome Research Institute Human Development KATHY HUDSON, Ph.D. Genetics and Public Policy Center STEPHEN G. RYAN, M.D. AstraZeneca Pharmaceuticals FOR HEALTH ERIN HAMMERS College of American Pathologists National Institute of Child Health and Human Development KEVIN A. SCHULMAN, M.D. Research Associate SHARON KARDIA, Ph.D. Duke University Department of Veterans Affairs National Society of Genetic Counselors University of Michigan, School of Public Health ALEX REPACE Eli Lilly and Company Pfizer, Inc. SHARON TERRY Senior Program Assistant MOHAMED KHAN, M.D., Ph.D. Genetic Alliance Genetic Alliance Secretaryâs Advisory Committee on Genetics, Health and Society American Medical Association STEVEN TEUTSCH, M.D., Ph.D. ANDREW POPE MUIN KHOURY, M.D., Ph.D. Secretaryâs Advisory Committee on Genetics, Director, Board on Health Sciences Policy Centers for Disease Control and Prevention Health and Society ROUNDTABLE 2008-2009 FUNDING ALLAN KORN, M.D. MARTHA TURNER, Ph.D., R.N., B.C., C.N.A.A. CONTACT BlueCross/BlueShield Association American Nurses Association For more information about the Roundtable on Translating Genomic-Based Research for Health, please visit our website at: MICHAEL S. LAUER, M.D., F.A.C.C., F.A.H.A. MICHAEL S. WATSON, Ph.D. National Heart, Lung, and Blood Institute American College of Medical Genetics www.iom.edu/genomicroundtable FEDERAL, 32% DEBRA LEONARD, M.D., Ph.D. CATHERINE A. WICKLUND, M.S., CGC 500 Fifth Street, N.W., Washington, DC 20001 National Society of Genetic Counselors INDUSTRY, 45% College of American Pathologists MICHELE LLOYD-PURYEAR, M.D., Ph.D. JANET WOODCOCK, M.D. BOARD ON Health Resources and Services Administration Food and Drug Administration H E A LT H SCIENCES NON-PROFIT, 23% POLICY
MESSAGE FROM THE CHAIR ROUNDTABLE models that rely on extensive education and counseling may not be suitable when patients and payers demand the inclusion of genomic ROUNDTABLE The Institute of Medicineâs Roundtable on Translating Genomic- Based Research for Health held its first workshop on December 4, FUTURE ACTIVITIES ACTIVITIES IN 2008 information in making everyday health care decisions. New practice ACTIVITIES IN 2009 2007, to address the following questions: The Roundtable small groups are planning three workshops for W hen the Human Genome Project began models of service delivery will have to be developed to contend with 2010-2011: ⢠Are there different pathways by which new scientific findings in 1990, the idea of predicting, diag- the rising tide of genomic innovations. move from the research setting into health care? Clinical Practice and Public Health nosing, and treating disease based on MEETINGS AND WORKSHOPS The workshop featured presentations and discussion focused on WORK GROUPS ⢠If so, what are the implications of those different pathways for This workshop will define the set of challenges in accomplishing Case Studies of Translation Pathways â April 1-2, 2008 three goals: In late 2008, the Roundtable formed small sub-groups in order to genomics? genetic sequences was merely a widespread implementation of genomic technologies to the popula- concentrate on specific issues important to Roundtable members. ⢠What can we learn from the translation of other new technologies vision. Now, nearly 20 years later, DNA The Roundtable held a public meeting using four case studies for ⢠To understand the current status of genetic and genomic service tion, using specific examples to discuss educational materials, pro- These groups meet in monthly conference calls, as well as in person as we seek to understand the translation of genome science into an in-depth exploration of the translation of genomic innovations delivery. fessional guidelines, and workforce issues. Presenters will be asked analysis is being used to help guide treatment decisions at Roundtable meetings. The members discuss the issue at hand, health care? from the initial research to clinical application. The workshop ⢠To explore how needs will change as genomic innovation pro- to answer the question: Once stakeholders agree there is sufficient for breast and colon cancer, predict drug responses, and develop a list of priorities, and decide on activities to pursueâa particularly focused on identifying barriers and facilitators to gresses. Information obtained from the workshop was then used to further information to help clinicians and patients make decisions, what are workshop, a commissioned paper, or other activity. There are four diagnose a growing array of genetic conditions. In addi- translating research findings and assuring an adequate evidence ⢠To examine what types of alternative practice models will be discussion and exploration of the answers to these questions. the tasks and challenges involved in diffusing the test into practice? work groups: base for clinical decision making. Speakers were invited to share needed. This workshop report summarizes speaker presentations and Workshop participants will learn from experiences in non-genetic tion, private companies have begun offering genetic test- their experiences with the four case studies: HLA B*5701 testing ⢠Diagnostic Applications A summary of the workshop presentations was published in fall discussions. arenas, such as the American Heart Associationâs âGet with the ing for everything from ancestry to dating compatibility to for abacavir, array comparative genomic hybridization, throm- A workshop summary was prepared and published in 2009. ⢠Drug Development Informed by Genetics and Genomics 2009. Guidelinesâ program, or preventive clinical services such as immu- WYLIE BURKE bophilia screening, and cytochrome P450 testing for serotonin- ⢠Clinical Practice and Public Health nization programs. Presenters will discuss what interventions have disease risk. Each day, new associations are found that Innovations in Service Delivery in the Age of specific reuptake inhibitor (SSRI) use. Some specific questions Discussion of Evidentiary Issues in the Translation of Genomic ⢠Overview Strategic Plan and Goal Setting, Part 1 â June 10-11, 2009 Genomics â 2009 been effective in changing health care systems or provider behavior could result in advanced capabilities to screen, treat, and addressed were: Innovations â October 6-7, 2008 to increase implementation of recommended clinical preventive and perhaps even prevent common diseases. However, many questions remain about these discover- The Drug Development group is considering issues such as align- At this meeting, members discussed and developed a strategic On July 28, 2008, the Roundtable held a public workshop that chronic disease management services, and identify which inter- ⢠How did the manufacturers decide what variants would be mea- New links between disease and genetics are being discovered at a ment of stakeholders and sample collection for testing interventions. plan for the future activities of the Roundtable. Underlying the focused on the future of genomic service delivery. New discoveries ies: What levels of evidence are necessary in order to introduce new technologies into the clinical ventions might be most suitable for increasing implementation of sured and how results were to be interpreted? rapid pace. However, questions remain about the appropriate time The Diagnostic Applications group is considering various models for Roundtableâs plan are the assumptions that: in genomics are changing how we diagnose and treat diseases. recommended genomic services. setting? What are the ethical, legal, and social implications? How will new genomic technologies fit ⢠What was the business model for the test? to move a discovery from the research stage into the clinical setting. demonstrating clinical benefit of innovations. The Clinical Practice Whereas previously, genetic testing could only screen for rare ⢠Health-related research and research funding are driven by into an already overburdened health care system? ⢠What obstacles have the manufacturers or distributors experi- The Roundtable held a public meeting to discuss issues of evidence and Public Health group is examining the value of genetic and genetic disorders, increasingly, patients and their physicians are important health questions. Drug Development enced? Are other obstacles foreseen? in genomic innovations, exploring questions such as: genomic innovations and how value is defined for different stake- able to use genetic information to predict the risk of common dis- ⢠Research spans the translational pathway. ⢠What regulatory issues had to be addressed in bringing the test holders. The Overview group will assemble and analyze the output eases such as diabetes and breast cancer and to help determine This workshop will examine the issue of pre-competitive collabora- With these issues in mind, the National Academies created the Roundtable on Translating ⢠What kind of evidence is necessary to move an innovation into ⢠There is a lack of evidence concerning the clinical utility of genomic to market? of the various groups and develop an overall strategic plan to move prevention and treatment options. Genetic specialists have long tion for genome-based drug development. The drug-development Genomic-Based Research for Health in 2007. The Roundtable brings together experts from aca- practice? health care applications and their optimal delivery. ⢠What evidence base was needed at different stages of transla- the work of the Roundtable forward. been the main providers of genetic services, through an inten- industry has tools and knowledge that could be of benefit to others, ⢠How does the evidence bar change at the different stages of ⢠Clinical utility has multiple components. demia, industry, patient and provider groups, government, and others to hold a conversation of tion? What were the barriers or facilitators to developing the sive counseling model. However, as the shift occurs from testing and at the same time, the industry lacks access to samples that the needed evidence? translation? government holds. The workshop will aim to: how to advance the field of genomics, and in particular, how to improve the translation of research In addition, the Roundtable set two goals for near-term work. for rare genetic disorders to screening for common diseases, it ⢠Is the amount of evidence required the same for all stake- findings into applications that result in real health benefit. One key function of the Roundtable is ⢠Has post-market research been performed? Are there data on holders? MEETINGS AND WORKSHOPS Through the use of workshops, seminars, or commissioned papers: will become necessary for general practitioners, pediatricians, ⢠Elucidate a conceptual framework for the sharing of resources outcomes of testing in clinical settings? Has use of test changed obstetricians/gynecologists, and other providers to be knowledge- ⢠Where are the biggest gaps in evidence? Systems for Research and Evaluation for Translating Genome- from many different stakeholdersâacademia, industry, govern- to identify topics and hold public discussions in order to educate and to engage the public on key with experience? ⢠Discuss approaches to filling evidence gaps in the use of gene- able about and comfortable with using genetic information to ⢠Can one overarching process or set of standards be developed? Based Discoveries for Health â February 12-13, 2009 ment, and others; tic diagnostics or the use of genomics in drug development. better their patientsâ health. issues in the field. ⢠Do evidence standards need to be different by disease? By stake- ⢠Define the rules of engagement for such collaboration; Innovations in Service Delivery in the Age of Genomics â ⢠Explore measures, including further research, to improve or facili- The rapidly advancing field of genomics has stirred great interest in ⢠Look at best practices that make collaboration work; and July 28-29, 2008 holder? tate implementation of genomic health applications that could This report summarizes the workshop presentations and discus- âpersonalizedâ health care from both the public and private sectors. ⢠Identify specific examples from other industries that have The Roundtable has held several public workshops and discussions in 2008-2009, including a ⢠Who should take the lead in compiling evidence, identifying gaps, improve health outcomes. sions that described the current system of genetic service delivery, The Roundtable on Translating Genomic-Based Research for Health A variety of genetically-based health care innovations have already engaged in pre-competitive collaboration. filling gaps? described some pioneering current practice models, and proposed workshop that explored novel ways of delivering genomic services, and a workshop that examined reached the marketplace, but information about the clinical utility held a public workshop regarding service delivery in the age of After developing this strategic plan, the Roundtable small groups of these treatments and diagnostics is limited. Initiatives such as new models for integrating genetic and genomic innovations into Representatives from each constituency will describe their needs, systems designed to facilitate the collection and analysis of genomic data. We have formed several genomics. The current system for delivering genetic services is The Roundtable heard presentations on various strategies for gath- identified workshop topics that would help fulfill these goals (see the National Institutes of Healthâs Genome Wide Association Studies education, training, and clinical practice. the resources they could share, and the issues they foresee in par- working groups to probe more deeply into topics such as population health, issues in drug and test based on a model of intensive counseling for rare diseases. As the ering and evaluating evidence, examined the current landscape of âFuture Activitiesâ for details). use of genomic technology becomes more prevalent, providers evidence, and discussed the challenges and possible solutions to database seek to identify genetic factors that influence health and ticipating in collaborative activities. development, and models for evidence collection. disease. Identifying an association between a gene and a trait or dis- Systems for Research and Evaluation for Translating and patients will need new ways of communicating about genetic the issue of setting standards for evidence to bring genomic innova- Strategic Plan and Goal Setting, Part 2 â November 16-17, 2009 ease does not, however, provide information about how this under- Genome-Based Discoveries for Health â 2009 Diagnostic Applications information and how it may change health care options. Old practice tions to market. As the pace of genomic discoveries quickens, and concerns and questions increase in tandem, the standing could impact clinical care and patient health outcomes. To help guide future activities of the Roundtable, members will invite The Roundtable held a workshop on February 12, 2009, to examine This workshop will define the types of studies needed to generate speakers to discuss a number of issues including pre-competitive existing systems that could be adapted to evaluate the use and Roundtable has the unique opportunity to bring stakeholders and the public together for dialogue The Roundtable identified the need for a workshop to examine sufficient evidence to support claims for different types of diagnos- collaboration, innovative services, and levels of evidence necessary impact of genetically-based innovations in patient care. and debate about areas of uncertainty and the opportunities and challenges that lay ahead. existing systems that create the kinds of resources and structure tics. The Diagnostic Applications group will develop a matrix to look for different stakeholders. that facilitate evaluation of genome-based health care. More specifi- at the type and level of evidence required by different stakeholders, The report summarizes the presentations by the expert panel- cally, the workshop addressed the practical realities of creating such and this matrix will be presented and discussed at the workshop. Sincerely, ists and the open discussions moderated by Roundtable Chair, systems; the different models that could be used; the strengths and PUBLICATIONS Wylie Burke. Chapter 2 provides an overview describing how the Presenters and participants will then discuss the development of an weaknesses of each model; and the effectiveness of such systems incentive-based process that allows for the efficient translation of Diffusion and Use of Genomic Innovations in Health and evidence needed for decision making may vary according to the in addressing health outcomes. genomic tests and biomarkers into effective clinical practice, exam- Medicine â 2008 particular application of the genome-based intervention. Chapters ining what types of incentives would be sufficient and necessary for 3 though 5 summarize the three panel sessions: creating evidence On February 12, 2009, the Roundtable convened a workshop Until fairly recently, genetic information was used primarily in the different stakeholders. systems; current practices in moving from evidence to decision; Wylie Burke, M.D., Ph.D. designed to address four central questions related to the develop- diagnosis of relatively rare genetic diseases, such as cystic fibrosis and gaps in the system for evaluation of genome-based health ment of systems to evaluate health care innovations that stem from and Huntingtonâs Disease, but a transformation in the use of genetic Professor and Chair care. Concluding remarks are provided in Chapter 6, and the genome-based research: and genomic information is under way. While many predictions have Department of Bioethics & Humanities workshop agenda and biographical sketches of the panelists are ⢠What are the practical realities of creating such systems? been made that genomics will transform medicine, to date few of available in the appendixes. University of Washington these promising discoveries have resulted in actual applications in ⢠What are the different models that could be used? ⢠What are the strengths and weaknesses of each model? medicine and health. ⢠How effectively can such systems address questions about health outcomes?
ABOUT THE ROUNDTABLE MEMBERSHIP The Institute of Medicine Roundtable on Translating Genomic-Based Research for Health brings Membership of the Roundtable includes a diverse range of stakeholders, including government, the pharmaceutical together leaders from academia, industry, government, foundations, and associations who have a industry, academic health centers, researchers, associations, patient advocates, and others. mutual interest in addressing the issues surrounding the translation of genomic-based research. The mission of the Roundtable is to advance the field of genomics and improve the translation of research findings to health care, education, and policy. WYLIE BURKE, M.D., Ph.D. (Chair) GARRY NEIL, M.D. Translating genomic innovations involves many disciplines, and takes place within different economic, University of Washington Johnson & Johnson 2 0 0 8 -2 0 0 9 A N N U A L R E P O R T social, and cultural contexts, generating a need for increased communication and understanding ROBERT L. NUSSBAUM, M.D. BRUCE BLUMBERG, M.D. across these fields. Furthermore, these innovations have produced a diversity of new issues to be Kaiser Permanente University of California, San Francisco, School of Medicine addressed, including issues such as evidence of utility, economic implications, equal access, and pub- lic perspectives. As a convening mechanism for interested parties from different perspectives to meet C. THOMAS CASKEY, M.D., F.A.C.P. KIMBERLY J. POPOVITS and discuss complex issues of mutual concern in a neutral setting, the Roundtable fosters dialogue across sectors and institutions and fosters collaboration among stakeholders. University of Texas Health Science Center at Houston Genomic Health, Inc. AIDAN POWER, M.B., B.Ch., M.Sc., M.R.C.Psych. Pfizer, Inc. ROUNDTABLE ON STEPHEN ECK, M.D., Ph.D. To achieve its objectives, the Roundtable conducts structured discussions, workshops, and sympo- TRANSLATING Eli Lilly and Company sia, and publishes workshop summaries. Specific issues and agenda topics are determined by the RONALD PRZYGODZKI, M.D. Roundtable membership and span a broad range of issues relevant to the translation process. FAITH T. FITZGERALD, M.D., MACP Department of Veterans Affairs SPONSORSHIP American College of Physicians AMELIE G. RAMIREZ, Dr.P.H. 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 American College of Medical Genetics Genomic Health, Inc. ANDREW N. FREEDMAN, Ph.D. National Cancer Institute University of Texas Health Science Center at San Antonio GENOMIC-BASED public. The mission of the Institute of Medicine embraces the health of people everywhere. American College of Physicians Human Resources and Services Administration GEOFFREY GINSBURG, M.D., Ph.D. LAURA LYMAN RODRIGUEZ, Ph.D. ROUNDTABLE STAFF American Medical Association American Nurses Association Johnson & Johnson Kaiser Permanente Duke University R. RODNEY HOWELL, M.D. National Human Genome Research Institute ALLEN D. ROSES, Ph.D. Duke University RESEARCH AstraZeneca Pharmaceuticals, Inc. National Cancer Institute National Institute of Child Health and LYLA M. HERNANDEZ Director BlueCross/BlueShield Association Centers for Disease Control and Prevention National Heart, Lung, and Blood Institute National Human Genome Research Institute Human Development KATHY HUDSON, Ph.D. Genetics and Public Policy Center STEPHEN G. RYAN, M.D. AstraZeneca Pharmaceuticals FOR HEALTH ERIN HAMMERS College of American Pathologists National Institute of Child Health and Human Development KEVIN A. SCHULMAN, M.D. Research Associate SHARON KARDIA, Ph.D. Duke University Department of Veterans Affairs National Society of Genetic Counselors University of Michigan, School of Public Health ALEX REPACE Eli Lilly and Company Pfizer, Inc. SHARON TERRY Senior Program Assistant MOHAMED KHAN, M.D., Ph.D. Genetic Alliance Genetic Alliance Secretaryâs Advisory Committee on Genetics, Health and Society American Medical Association STEVEN TEUTSCH, M.D., Ph.D. ANDREW POPE MUIN KHOURY, M.D., Ph.D. Secretaryâs Advisory Committee on Genetics, Director, Board on Health Sciences Policy Centers for Disease Control and Prevention Health and Society ROUNDTABLE 2008-2009 FUNDING ALLAN KORN, M.D. MARTHA TURNER, Ph.D., R.N., B.C., C.N.A.A. CONTACT BlueCross/BlueShield Association American Nurses Association For more information about the Roundtable on Translating Genomic-Based Research for Health, please visit our website at: MICHAEL S. LAUER, M.D., F.A.C.C., F.A.H.A. MICHAEL S. WATSON, Ph.D. National Heart, Lung, and Blood Institute American College of Medical Genetics www.iom.edu/genomicroundtable FEDERAL, 32% DEBRA LEONARD, M.D., Ph.D. CATHERINE A. WICKLUND, M.S., CGC 500 Fifth Street, N.W., Washington, DC 20001 National Society of Genetic Counselors INDUSTRY, 45% College of American Pathologists MICHELE LLOYD-PURYEAR, M.D., Ph.D. JANET WOODCOCK, M.D. BOARD ON Health Resources and Services Administration Food and Drug Administration H E A LT H SCIENCES NON-PROFIT, 23% POLICY
MESSAGE FROM THE CHAIR ROUNDTABLE models that rely on extensive education and counseling may not be suitable when patients and payers demand the inclusion of genomic ROUNDTABLE The Institute of Medicineâs Roundtable on Translating Genomic- Based Research for Health held its first workshop on December 4, FUTURE ACTIVITIES ACTIVITIES IN 2008 information in making everyday health care decisions. New practice ACTIVITIES IN 2009 2007, to address the following questions: The Roundtable small groups are planning three workshops for W hen the Human Genome Project began models of service delivery will have to be developed to contend with 2010-2011: ⢠Are there different pathways by which new scientific findings in 1990, the idea of predicting, diag- the rising tide of genomic innovations. move from the research setting into health care? Clinical Practice and Public Health nosing, and treating disease based on MEETINGS AND WORKSHOPS The workshop featured presentations and discussion focused on WORK GROUPS ⢠If so, what are the implications of those different pathways for This workshop will define the set of challenges in accomplishing Case Studies of Translation Pathways â April 1-2, 2008 three goals: In late 2008, the Roundtable formed small sub-groups in order to genomics? genetic sequences was merely a widespread implementation of genomic technologies to the popula- concentrate on specific issues important to Roundtable members. ⢠What can we learn from the translation of other new technologies vision. Now, nearly 20 years later, DNA The Roundtable held a public meeting using four case studies for ⢠To understand the current status of genetic and genomic service tion, using specific examples to discuss educational materials, pro- These groups meet in monthly conference calls, as well as in person as we seek to understand the translation of genome science into an in-depth exploration of the translation of genomic innovations delivery. fessional guidelines, and workforce issues. Presenters will be asked analysis is being used to help guide treatment decisions at Roundtable meetings. The members discuss the issue at hand, health care? from the initial research to clinical application. The workshop ⢠To explore how needs will change as genomic innovation pro- to answer the question: Once stakeholders agree there is sufficient for breast and colon cancer, predict drug responses, and develop a list of priorities, and decide on activities to pursueâa particularly focused on identifying barriers and facilitators to gresses. Information obtained from the workshop was then used to further information to help clinicians and patients make decisions, what are workshop, a commissioned paper, or other activity. There are four diagnose a growing array of genetic conditions. In addi- translating research findings and assuring an adequate evidence ⢠To examine what types of alternative practice models will be discussion and exploration of the answers to these questions. the tasks and challenges involved in diffusing the test into practice? work groups: base for clinical decision making. Speakers were invited to share needed. This workshop report summarizes speaker presentations and Workshop participants will learn from experiences in non-genetic tion, private companies have begun offering genetic test- their experiences with the four case studies: HLA B*5701 testing ⢠Diagnostic Applications A summary of the workshop presentations was published in fall discussions. arenas, such as the American Heart Associationâs âGet with the ing for everything from ancestry to dating compatibility to for abacavir, array comparative genomic hybridization, throm- A workshop summary was prepared and published in 2009. ⢠Drug Development Informed by Genetics and Genomics 2009. Guidelinesâ program, or preventive clinical services such as immu- WYLIE BURKE bophilia screening, and cytochrome P450 testing for serotonin- ⢠Clinical Practice and Public Health nization programs. Presenters will discuss what interventions have disease risk. Each day, new associations are found that Innovations in Service Delivery in the Age of specific reuptake inhibitor (SSRI) use. Some specific questions Discussion of Evidentiary Issues in the Translation of Genomic ⢠Overview Strategic Plan and Goal Setting, Part 1 â June 10-11, 2009 Genomics â 2009 been effective in changing health care systems or provider behavior could result in advanced capabilities to screen, treat, and addressed were: Innovations â October 6-7, 2008 to increase implementation of recommended clinical preventive and perhaps even prevent common diseases. However, many questions remain about these discover- The Drug Development group is considering issues such as align- At this meeting, members discussed and developed a strategic On July 28, 2008, the Roundtable held a public workshop that chronic disease management services, and identify which inter- ⢠How did the manufacturers decide what variants would be mea- New links between disease and genetics are being discovered at a ment of stakeholders and sample collection for testing interventions. plan for the future activities of the Roundtable. Underlying the focused on the future of genomic service delivery. New discoveries ies: What levels of evidence are necessary in order to introduce new technologies into the clinical ventions might be most suitable for increasing implementation of sured and how results were to be interpreted? rapid pace. However, questions remain about the appropriate time The Diagnostic Applications group is considering various models for Roundtableâs plan are the assumptions that: in genomics are changing how we diagnose and treat diseases. recommended genomic services. setting? What are the ethical, legal, and social implications? How will new genomic technologies fit ⢠What was the business model for the test? to move a discovery from the research stage into the clinical setting. demonstrating clinical benefit of innovations. The Clinical Practice Whereas previously, genetic testing could only screen for rare ⢠Health-related research and research funding are driven by into an already overburdened health care system? ⢠What obstacles have the manufacturers or distributors experi- The Roundtable held a public meeting to discuss issues of evidence and Public Health group is examining the value of genetic and genetic disorders, increasingly, patients and their physicians are important health questions. Drug Development enced? Are other obstacles foreseen? in genomic innovations, exploring questions such as: genomic innovations and how value is defined for different stake- able to use genetic information to predict the risk of common dis- ⢠Research spans the translational pathway. ⢠What regulatory issues had to be addressed in bringing the test holders. The Overview group will assemble and analyze the output eases such as diabetes and breast cancer and to help determine This workshop will examine the issue of pre-competitive collabora- With these issues in mind, the National Academies created the Roundtable on Translating ⢠What kind of evidence is necessary to move an innovation into ⢠There is a lack of evidence concerning the clinical utility of genomic to market? of the various groups and develop an overall strategic plan to move prevention and treatment options. Genetic specialists have long tion for genome-based drug development. The drug-development Genomic-Based Research for Health in 2007. The Roundtable brings together experts from aca- practice? health care applications and their optimal delivery. ⢠What evidence base was needed at different stages of transla- the work of the Roundtable forward. been the main providers of genetic services, through an inten- industry has tools and knowledge that could be of benefit to others, ⢠How does the evidence bar change at the different stages of ⢠Clinical utility has multiple components. demia, industry, patient and provider groups, government, and others to hold a conversation of tion? What were the barriers or facilitators to developing the sive counseling model. However, as the shift occurs from testing and at the same time, the industry lacks access to samples that the needed evidence? translation? government holds. The workshop will aim to: how to advance the field of genomics, and in particular, how to improve the translation of research In addition, the Roundtable set two goals for near-term work. for rare genetic disorders to screening for common diseases, it ⢠Is the amount of evidence required the same for all stake- findings into applications that result in real health benefit. One key function of the Roundtable is ⢠Has post-market research been performed? Are there data on holders? MEETINGS AND WORKSHOPS Through the use of workshops, seminars, or commissioned papers: will become necessary for general practitioners, pediatricians, ⢠Elucidate a conceptual framework for the sharing of resources outcomes of testing in clinical settings? Has use of test changed obstetricians/gynecologists, and other providers to be knowledge- ⢠Where are the biggest gaps in evidence? Systems for Research and Evaluation for Translating Genome- from many different stakeholdersâacademia, industry, govern- to identify topics and hold public discussions in order to educate and to engage the public on key with experience? ⢠Discuss approaches to filling evidence gaps in the use of gene- able about and comfortable with using genetic information to ⢠Can one overarching process or set of standards be developed? Based Discoveries for Health â February 12-13, 2009 ment, and others; tic diagnostics or the use of genomics in drug development. better their patientsâ health. issues in the field. ⢠Do evidence standards need to be different by disease? By stake- ⢠Define the rules of engagement for such collaboration; Innovations in Service Delivery in the Age of Genomics â ⢠Explore measures, including further research, to improve or facili- The rapidly advancing field of genomics has stirred great interest in ⢠Look at best practices that make collaboration work; and July 28-29, 2008 holder? tate implementation of genomic health applications that could This report summarizes the workshop presentations and discus- âpersonalizedâ health care from both the public and private sectors. ⢠Identify specific examples from other industries that have The Roundtable has held several public workshops and discussions in 2008-2009, including a ⢠Who should take the lead in compiling evidence, identifying gaps, improve health outcomes. sions that described the current system of genetic service delivery, The Roundtable on Translating Genomic-Based Research for Health A variety of genetically-based health care innovations have already engaged in pre-competitive collaboration. filling gaps? described some pioneering current practice models, and proposed workshop that explored novel ways of delivering genomic services, and a workshop that examined reached the marketplace, but information about the clinical utility held a public workshop regarding service delivery in the age of After developing this strategic plan, the Roundtable small groups of these treatments and diagnostics is limited. Initiatives such as new models for integrating genetic and genomic innovations into Representatives from each constituency will describe their needs, systems designed to facilitate the collection and analysis of genomic data. We have formed several genomics. The current system for delivering genetic services is The Roundtable heard presentations on various strategies for gath- identified workshop topics that would help fulfill these goals (see the National Institutes of Healthâs Genome Wide Association Studies education, training, and clinical practice. the resources they could share, and the issues they foresee in par- working groups to probe more deeply into topics such as population health, issues in drug and test based on a model of intensive counseling for rare diseases. As the ering and evaluating evidence, examined the current landscape of âFuture Activitiesâ for details). use of genomic technology becomes more prevalent, providers evidence, and discussed the challenges and possible solutions to database seek to identify genetic factors that influence health and ticipating in collaborative activities. development, and models for evidence collection. disease. Identifying an association between a gene and a trait or dis- Systems for Research and Evaluation for Translating and patients will need new ways of communicating about genetic the issue of setting standards for evidence to bring genomic innova- Strategic Plan and Goal Setting, Part 2 â November 16-17, 2009 ease does not, however, provide information about how this under- Genome-Based Discoveries for Health â 2009 Diagnostic Applications information and how it may change health care options. Old practice tions to market. As the pace of genomic discoveries quickens, and concerns and questions increase in tandem, the standing could impact clinical care and patient health outcomes. To help guide future activities of the Roundtable, members will invite The Roundtable held a workshop on February 12, 2009, to examine This workshop will define the types of studies needed to generate speakers to discuss a number of issues including pre-competitive existing systems that could be adapted to evaluate the use and Roundtable has the unique opportunity to bring stakeholders and the public together for dialogue The Roundtable identified the need for a workshop to examine sufficient evidence to support claims for different types of diagnos- collaboration, innovative services, and levels of evidence necessary impact of genetically-based innovations in patient care. and debate about areas of uncertainty and the opportunities and challenges that lay ahead. existing systems that create the kinds of resources and structure tics. The Diagnostic Applications group will develop a matrix to look for different stakeholders. that facilitate evaluation of genome-based health care. More specifi- at the type and level of evidence required by different stakeholders, The report summarizes the presentations by the expert panel- cally, the workshop addressed the practical realities of creating such and this matrix will be presented and discussed at the workshop. Sincerely, ists and the open discussions moderated by Roundtable Chair, systems; the different models that could be used; the strengths and PUBLICATIONS Wylie Burke. Chapter 2 provides an overview describing how the Presenters and participants will then discuss the development of an weaknesses of each model; and the effectiveness of such systems incentive-based process that allows for the efficient translation of Diffusion and Use of Genomic Innovations in Health and evidence needed for decision making may vary according to the in addressing health outcomes. genomic tests and biomarkers into effective clinical practice, exam- Medicine â 2008 particular application of the genome-based intervention. Chapters ining what types of incentives would be sufficient and necessary for 3 though 5 summarize the three panel sessions: creating evidence On February 12, 2009, the Roundtable convened a workshop Until fairly recently, genetic information was used primarily in the different stakeholders. systems; current practices in moving from evidence to decision; Wylie Burke, M.D., Ph.D. designed to address four central questions related to the develop- diagnosis of relatively rare genetic diseases, such as cystic fibrosis and gaps in the system for evaluation of genome-based health ment of systems to evaluate health care innovations that stem from and Huntingtonâs Disease, but a transformation in the use of genetic Professor and Chair care. Concluding remarks are provided in Chapter 6, and the genome-based research: and genomic information is under way. While many predictions have Department of Bioethics & Humanities workshop agenda and biographical sketches of the panelists are ⢠What are the practical realities of creating such systems? been made that genomics will transform medicine, to date few of available in the appendixes. University of Washington these promising discoveries have resulted in actual applications in ⢠What are the different models that could be used? ⢠What are the strengths and weaknesses of each model? medicine and health. ⢠How effectively can such systems address questions about health outcomes?
ABOUT THE ROUNDTABLE MEMBERSHIP The Institute of Medicine Roundtable on Translating Genomic-Based Research for Health brings Membership of the Roundtable includes a diverse range of stakeholders, including government, the pharmaceutical together leaders from academia, industry, government, foundations, and associations who have a industry, academic health centers, researchers, associations, patient advocates, and others. mutual interest in addressing the issues surrounding the translation of genomic-based research. The mission of the Roundtable is to advance the field of genomics and improve the translation of research findings to health care, education, and policy. WYLIE BURKE, M.D., Ph.D. (Chair) GARRY NEIL, M.D. Translating genomic innovations involves many disciplines, and takes place within different economic, University of Washington Johnson & Johnson 2 0 0 8 -2 0 0 9 A N N U A L R E P O R T social, and cultural contexts, generating a need for increased communication and understanding ROBERT L. NUSSBAUM, M.D. BRUCE BLUMBERG, M.D. across these fields. Furthermore, these innovations have produced a diversity of new issues to be Kaiser Permanente University of California, San Francisco, School of Medicine addressed, including issues such as evidence of utility, economic implications, equal access, and pub- lic perspectives. As a convening mechanism for interested parties from different perspectives to meet C. THOMAS CASKEY, M.D., F.A.C.P. KIMBERLY J. POPOVITS and discuss complex issues of mutual concern in a neutral setting, the Roundtable fosters dialogue across sectors and institutions and fosters collaboration among stakeholders. University of Texas Health Science Center at Houston Genomic Health, Inc. AIDAN POWER, M.B., B.Ch., M.Sc., M.R.C.Psych. Pfizer, Inc. ROUNDTABLE ON STEPHEN ECK, M.D., Ph.D. To achieve its objectives, the Roundtable conducts structured discussions, workshops, and sympo- TRANSLATING Eli Lilly and Company sia, and publishes workshop summaries. Specific issues and agenda topics are determined by the RONALD PRZYGODZKI, M.D. Roundtable membership and span a broad range of issues relevant to the translation process. FAITH T. FITZGERALD, M.D., MACP Department of Veterans Affairs SPONSORSHIP American College of Physicians AMELIE G. RAMIREZ, Dr.P.H. 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 American College of Medical Genetics Genomic Health, Inc. ANDREW N. FREEDMAN, Ph.D. National Cancer Institute University of Texas Health Science Center at San Antonio GENOMIC-BASED public. The mission of the Institute of Medicine embraces the health of people everywhere. American College of Physicians Human Resources and Services Administration GEOFFREY GINSBURG, M.D., Ph.D. LAURA LYMAN RODRIGUEZ, Ph.D. ROUNDTABLE STAFF American Medical Association American Nurses Association Johnson & Johnson Kaiser Permanente Duke University R. RODNEY HOWELL, M.D. National Human Genome Research Institute ALLEN D. ROSES, Ph.D. Duke University RESEARCH AstraZeneca Pharmaceuticals, Inc. National Cancer Institute National Institute of Child Health and LYLA M. HERNANDEZ Director BlueCross/BlueShield Association Centers for Disease Control and Prevention National Heart, Lung, and Blood Institute National Human Genome Research Institute Human Development KATHY HUDSON, Ph.D. Genetics and Public Policy Center STEPHEN G. RYAN, M.D. AstraZeneca Pharmaceuticals FOR HEALTH ERIN HAMMERS College of American Pathologists National Institute of Child Health and Human Development KEVIN A. SCHULMAN, M.D. Research Associate SHARON KARDIA, Ph.D. Duke University Department of Veterans Affairs National Society of Genetic Counselors University of Michigan, School of Public Health ALEX REPACE Eli Lilly and Company Pfizer, Inc. SHARON TERRY Senior Program Assistant MOHAMED KHAN, M.D., Ph.D. Genetic Alliance Genetic Alliance Secretaryâs Advisory Committee on Genetics, Health and Society American Medical Association STEVEN TEUTSCH, M.D., Ph.D. ANDREW POPE MUIN KHOURY, M.D., Ph.D. Secretaryâs Advisory Committee on Genetics, Director, Board on Health Sciences Policy Centers for Disease Control and Prevention Health and Society ROUNDTABLE 2008-2009 FUNDING ALLAN KORN, M.D. MARTHA TURNER, Ph.D., R.N., B.C., C.N.A.A. CONTACT BlueCross/BlueShield Association American Nurses Association For more information about the Roundtable on Translating Genomic-Based Research for Health, please visit our website at: MICHAEL S. LAUER, M.D., F.A.C.C., F.A.H.A. MICHAEL S. WATSON, Ph.D. National Heart, Lung, and Blood Institute American College of Medical Genetics www.iom.edu/genomicroundtable FEDERAL, 32% DEBRA LEONARD, M.D., Ph.D. CATHERINE A. WICKLUND, M.S., CGC 500 Fifth Street, N.W., Washington, DC 20001 National Society of Genetic Counselors INDUSTRY, 45% College of American Pathologists MICHELE LLOYD-PURYEAR, M.D., Ph.D. JANET WOODCOCK, M.D. BOARD ON Health Resources and Services Administration Food and Drug Administration H E A LT H SCIENCES NON-PROFIT, 23% POLICY
MESSAGE FROM THE CHAIR ROUNDTABLE models that rely on extensive education and counseling may not be suitable when patients and payers demand the inclusion of genomic ROUNDTABLE The Institute of Medicineâs Roundtable on Translating Genomic- Based Research for Health held its first workshop on December 4, FUTURE ACTIVITIES ACTIVITIES IN 2008 information in making everyday health care decisions. New practice ACTIVITIES IN 2009 2007, to address the following questions: The Roundtable small groups are planning three workshops for W hen the Human Genome Project began models of service delivery will have to be developed to contend with 2010-2011: ⢠Are there different pathways by which new scientific findings in 1990, the idea of predicting, diag- the rising tide of genomic innovations. move from the research setting into health care? Clinical Practice and Public Health nosing, and treating disease based on MEETINGS AND WORKSHOPS The workshop featured presentations and discussion focused on WORK GROUPS ⢠If so, what are the implications of those different pathways for This workshop will define the set of challenges in accomplishing Case Studies of Translation Pathways â April 1-2, 2008 three goals: In late 2008, the Roundtable formed small sub-groups in order to genomics? genetic sequences was merely a widespread implementation of genomic technologies to the popula- concentrate on specific issues important to Roundtable members. ⢠What can we learn from the translation of other new technologies vision. Now, nearly 20 years later, DNA The Roundtable held a public meeting using four case studies for ⢠To understand the current status of genetic and genomic service tion, using specific examples to discuss educational materials, pro- These groups meet in monthly conference calls, as well as in person as we seek to understand the translation of genome science into an in-depth exploration of the translation of genomic innovations delivery. fessional guidelines, and workforce issues. Presenters will be asked analysis is being used to help guide treatment decisions at Roundtable meetings. The members discuss the issue at hand, health care? from the initial research to clinical application. The workshop ⢠To explore how needs will change as genomic innovation pro- to answer the question: Once stakeholders agree there is sufficient for breast and colon cancer, predict drug responses, and develop a list of priorities, and decide on activities to pursueâa particularly focused on identifying barriers and facilitators to gresses. Information obtained from the workshop was then used to further information to help clinicians and patients make decisions, what are workshop, a commissioned paper, or other activity. There are four diagnose a growing array of genetic conditions. In addi- translating research findings and assuring an adequate evidence ⢠To examine what types of alternative practice models will be discussion and exploration of the answers to these questions. the tasks and challenges involved in diffusing the test into practice? work groups: base for clinical decision making. Speakers were invited to share needed. This workshop report summarizes speaker presentations and Workshop participants will learn from experiences in non-genetic tion, private companies have begun offering genetic test- their experiences with the four case studies: HLA B*5701 testing ⢠Diagnostic Applications A summary of the workshop presentations was published in fall discussions. arenas, such as the American Heart Associationâs âGet with the ing for everything from ancestry to dating compatibility to for abacavir, array comparative genomic hybridization, throm- A workshop summary was prepared and published in 2009. ⢠Drug Development Informed by Genetics and Genomics 2009. Guidelinesâ program, or preventive clinical services such as immu- WYLIE BURKE bophilia screening, and cytochrome P450 testing for serotonin- ⢠Clinical Practice and Public Health nization programs. Presenters will discuss what interventions have disease risk. Each day, new associations are found that Innovations in Service Delivery in the Age of specific reuptake inhibitor (SSRI) use. Some specific questions Discussion of Evidentiary Issues in the Translation of Genomic ⢠Overview Strategic Plan and Goal Setting, Part 1 â June 10-11, 2009 Genomics â 2009 been effective in changing health care systems or provider behavior could result in advanced capabilities to screen, treat, and addressed were: Innovations â October 6-7, 2008 to increase implementation of recommended clinical preventive and perhaps even prevent common diseases. However, many questions remain about these discover- The Drug Development group is considering issues such as align- At this meeting, members discussed and developed a strategic On July 28, 2008, the Roundtable held a public workshop that chronic disease management services, and identify which inter- ⢠How did the manufacturers decide what variants would be mea- New links between disease and genetics are being discovered at a ment of stakeholders and sample collection for testing interventions. plan for the future activities of the Roundtable. Underlying the focused on the future of genomic service delivery. New discoveries ies: What levels of evidence are necessary in order to introduce new technologies into the clinical ventions might be most suitable for increasing implementation of sured and how results were to be interpreted? rapid pace. However, questions remain about the appropriate time The Diagnostic Applications group is considering various models for Roundtableâs plan are the assumptions that: in genomics are changing how we diagnose and treat diseases. recommended genomic services. setting? What are the ethical, legal, and social implications? How will new genomic technologies fit ⢠What was the business model for the test? to move a discovery from the research stage into the clinical setting. demonstrating clinical benefit of innovations. The Clinical Practice Whereas previously, genetic testing could only screen for rare ⢠Health-related research and research funding are driven by into an already overburdened health care system? ⢠What obstacles have the manufacturers or distributors experi- The Roundtable held a public meeting to discuss issues of evidence and Public Health group is examining the value of genetic and genetic disorders, increasingly, patients and their physicians are important health questions. Drug Development enced? Are other obstacles foreseen? in genomic innovations, exploring questions such as: genomic innovations and how value is defined for different stake- able to use genetic information to predict the risk of common dis- ⢠Research spans the translational pathway. ⢠What regulatory issues had to be addressed in bringing the test holders. The Overview group will assemble and analyze the output eases such as diabetes and breast cancer and to help determine This workshop will examine the issue of pre-competitive collabora- With these issues in mind, the National Academies created the Roundtable on Translating ⢠What kind of evidence is necessary to move an innovation into ⢠There is a lack of evidence concerning the clinical utility of genomic to market? of the various groups and develop an overall strategic plan to move prevention and treatment options. Genetic specialists have long tion for genome-based drug development. The drug-development Genomic-Based Research for Health in 2007. The Roundtable brings together experts from aca- practice? health care applications and their optimal delivery. ⢠What evidence base was needed at different stages of transla- the work of the Roundtable forward. been the main providers of genetic services, through an inten- industry has tools and knowledge that could be of benefit to others, ⢠How does the evidence bar change at the different stages of ⢠Clinical utility has multiple components. demia, industry, patient and provider groups, government, and others to hold a conversation of tion? What were the barriers or facilitators to developing the sive counseling model. However, as the shift occurs from testing and at the same time, the industry lacks access to samples that the needed evidence? translation? government holds. The workshop will aim to: how to advance the field of genomics, and in particular, how to improve the translation of research In addition, the Roundtable set two goals for near-term work. for rare genetic disorders to screening for common diseases, it ⢠Is the amount of evidence required the same for all stake- findings into applications that result in real health benefit. One key function of the Roundtable is ⢠Has post-market research been performed? Are there data on holders? MEETINGS AND WORKSHOPS Through the use of workshops, seminars, or commissioned papers: will become necessary for general practitioners, pediatricians, ⢠Elucidate a conceptual framework for the sharing of resources outcomes of testing in clinical settings? Has use of test changed obstetricians/gynecologists, and other providers to be knowledge- ⢠Where are the biggest gaps in evidence? Systems for Research and Evaluation for Translating Genome- from many different stakeholdersâacademia, industry, govern- to identify topics and hold public discussions in order to educate and to engage the public on key with experience? ⢠Discuss approaches to filling evidence gaps in the use of gene- able about and comfortable with using genetic information to ⢠Can one overarching process or set of standards be developed? Based Discoveries for Health â February 12-13, 2009 ment, and others; tic diagnostics or the use of genomics in drug development. better their patientsâ health. issues in the field. ⢠Do evidence standards need to be different by disease? By stake- ⢠Define the rules of engagement for such collaboration; Innovations in Service Delivery in the Age of Genomics â ⢠Explore measures, including further research, to improve or facili- The rapidly advancing field of genomics has stirred great interest in ⢠Look at best practices that make collaboration work; and July 28-29, 2008 holder? tate implementation of genomic health applications that could This report summarizes the workshop presentations and discus- âpersonalizedâ health care from both the public and private sectors. ⢠Identify specific examples from other industries that have The Roundtable has held several public workshops and discussions in 2008-2009, including a ⢠Who should take the lead in compiling evidence, identifying gaps, improve health outcomes. sions that described the current system of genetic service delivery, The Roundtable on Translating Genomic-Based Research for Health A variety of genetically-based health care innovations have already engaged in pre-competitive collaboration. filling gaps? described some pioneering current practice models, and proposed workshop that explored novel ways of delivering genomic services, and a workshop that examined reached the marketplace, but information about the clinical utility held a public workshop regarding service delivery in the age of After developing this strategic plan, the Roundtable small groups of these treatments and diagnostics is limited. Initiatives such as new models for integrating genetic and genomic innovations into Representatives from each constituency will describe their needs, systems designed to facilitate the collection and analysis of genomic data. We have formed several genomics. The current system for delivering genetic services is The Roundtable heard presentations on various strategies for gath- identified workshop topics that would help fulfill these goals (see the National Institutes of Healthâs Genome Wide Association Studies education, training, and clinical practice. the resources they could share, and the issues they foresee in par- working groups to probe more deeply into topics such as population health, issues in drug and test based on a model of intensive counseling for rare diseases. As the ering and evaluating evidence, examined the current landscape of âFuture Activitiesâ for details). use of genomic technology becomes more prevalent, providers evidence, and discussed the challenges and possible solutions to database seek to identify genetic factors that influence health and ticipating in collaborative activities. development, and models for evidence collection. disease. Identifying an association between a gene and a trait or dis- Systems for Research and Evaluation for Translating and patients will need new ways of communicating about genetic the issue of setting standards for evidence to bring genomic innova- Strategic Plan and Goal Setting, Part 2 â November 16-17, 2009 ease does not, however, provide information about how this under- Genome-Based Discoveries for Health â 2009 Diagnostic Applications information and how it may change health care options. Old practice tions to market. As the pace of genomic discoveries quickens, and concerns and questions increase in tandem, the standing could impact clinical care and patient health outcomes. To help guide future activities of the Roundtable, members will invite The Roundtable held a workshop on February 12, 2009, to examine This workshop will define the types of studies needed to generate speakers to discuss a number of issues including pre-competitive existing systems that could be adapted to evaluate the use and Roundtable has the unique opportunity to bring stakeholders and the public together for dialogue The Roundtable identified the need for a workshop to examine sufficient evidence to support claims for different types of diagnos- collaboration, innovative services, and levels of evidence necessary impact of genetically-based innovations in patient care. and debate about areas of uncertainty and the opportunities and challenges that lay ahead. existing systems that create the kinds of resources and structure tics. The Diagnostic Applications group will develop a matrix to look for different stakeholders. that facilitate evaluation of genome-based health care. More specifi- at the type and level of evidence required by different stakeholders, The report summarizes the presentations by the expert panel- cally, the workshop addressed the practical realities of creating such and this matrix will be presented and discussed at the workshop. Sincerely, ists and the open discussions moderated by Roundtable Chair, systems; the different models that could be used; the strengths and PUBLICATIONS Wylie Burke. Chapter 2 provides an overview describing how the Presenters and participants will then discuss the development of an weaknesses of each model; and the effectiveness of such systems incentive-based process that allows for the efficient translation of Diffusion and Use of Genomic Innovations in Health and evidence needed for decision making may vary according to the in addressing health outcomes. genomic tests and biomarkers into effective clinical practice, exam- Medicine â 2008 particular application of the genome-based intervention. Chapters ining what types of incentives would be sufficient and necessary for 3 though 5 summarize the three panel sessions: creating evidence On February 12, 2009, the Roundtable convened a workshop Until fairly recently, genetic information was used primarily in the different stakeholders. systems; current practices in moving from evidence to decision; Wylie Burke, M.D., Ph.D. designed to address four central questions related to the develop- diagnosis of relatively rare genetic diseases, such as cystic fibrosis and gaps in the system for evaluation of genome-based health ment of systems to evaluate health care innovations that stem from and Huntingtonâs Disease, but a transformation in the use of genetic Professor and Chair care. Concluding remarks are provided in Chapter 6, and the genome-based research: and genomic information is under way. While many predictions have Department of Bioethics & Humanities workshop agenda and biographical sketches of the panelists are ⢠What are the practical realities of creating such systems? been made that genomics will transform medicine, to date few of available in the appendixes. University of Washington these promising discoveries have resulted in actual applications in ⢠What are the different models that could be used? ⢠What are the strengths and weaknesses of each model? medicine and health. ⢠How effectively can such systems address questions about health outcomes?
MESSAGE FROM THE CHAIR ROUNDTABLE models that rely on extensive education and counseling may not be suitable when patients and payers demand the inclusion of genomic ROUNDTABLE The Institute of Medicineâs Roundtable on Translating Genomic- Based Research for Health held its first workshop on December 4, FUTURE ACTIVITIES ACTIVITIES IN 2008 information in making everyday health care decisions. New practice ACTIVITIES IN 2009 2007, to address the following questions: The Roundtable small groups are planning three workshops for W hen the Human Genome Project began models of service delivery will have to be developed to contend with 2010-2011: ⢠Are there different pathways by which new scientific findings in 1990, the idea of predicting, diag- the rising tide of genomic innovations. move from the research setting into health care? Clinical Practice and Public Health nosing, and treating disease based on MEETINGS AND WORKSHOPS The workshop featured presentations and discussion focused on WORK GROUPS ⢠If so, what are the implications of those different pathways for This workshop will define the set of challenges in accomplishing Case Studies of Translation Pathways â April 1-2, 2008 three goals: In late 2008, the Roundtable formed small sub-groups in order to genomics? genetic sequences was merely a widespread implementation of genomic technologies to the popula- concentrate on specific issues important to Roundtable members. ⢠What can we learn from the translation of other new technologies vision. Now, nearly 20 years later, DNA The Roundtable held a public meeting using four case studies for ⢠To understand the current status of genetic and genomic service tion, using specific examples to discuss educational materials, pro- These groups meet in monthly conference calls, as well as in person as we seek to understand the translation of genome science into an in-depth exploration of the translation of genomic innovations delivery. fessional guidelines, and workforce issues. Presenters will be asked analysis is being used to help guide treatment decisions at Roundtable meetings. The members discuss the issue at hand, health care? from the initial research to clinical application. The workshop ⢠To explore how needs will change as genomic innovation pro- to answer the question: Once stakeholders agree there is sufficient for breast and colon cancer, predict drug responses, and develop a list of priorities, and decide on activities to pursueâa particularly focused on identifying barriers and facilitators to gresses. Information obtained from the workshop was then used to further information to help clinicians and patients make decisions, what are workshop, a commissioned paper, or other activity. There are four diagnose a growing array of genetic conditions. In addi- translating research findings and assuring an adequate evidence ⢠To examine what types of alternative practice models will be discussion and exploration of the answers to these questions. the tasks and challenges involved in diffusing the test into practice? work groups: base for clinical decision making. Speakers were invited to share needed. This workshop report summarizes speaker presentations and Workshop participants will learn from experiences in non-genetic tion, private companies have begun offering genetic test- their experiences with the four case studies: HLA B*5701 testing ⢠Diagnostic Applications A summary of the workshop presentations was published in fall discussions. arenas, such as the American Heart Associationâs âGet with the ing for everything from ancestry to dating compatibility to for abacavir, array comparative genomic hybridization, throm- A workshop summary was prepared and published in 2009. ⢠Drug Development Informed by Genetics and Genomics 2009. Guidelinesâ program, or preventive clinical services such as immu- WYLIE BURKE bophilia screening, and cytochrome P450 testing for serotonin- ⢠Clinical Practice and Public Health nization programs. Presenters will discuss what interventions have disease risk. Each day, new associations are found that Innovations in Service Delivery in the Age of specific reuptake inhibitor (SSRI) use. Some specific questions Discussion of Evidentiary Issues in the Translation of Genomic ⢠Overview Strategic Plan and Goal Setting, Part 1 â June 10-11, 2009 Genomics â 2009 been effective in changing health care systems or provider behavior could result in advanced capabilities to screen, treat, and addressed were: Innovations â October 6-7, 2008 to increase implementation of recommended clinical preventive and perhaps even prevent common diseases. However, many questions remain about these discover- The Drug Development group is considering issues such as align- At this meeting, members discussed and developed a strategic On July 28, 2008, the Roundtable held a public workshop that chronic disease management services, and identify which inter- ⢠How did the manufacturers decide what variants would be mea- New links between disease and genetics are being discovered at a ment of stakeholders and sample collection for testing interventions. plan for the future activities of the Roundtable. Underlying the focused on the future of genomic service delivery. New discoveries ies: What levels of evidence are necessary in order to introduce new technologies into the clinical ventions might be most suitable for increasing implementation of sured and how results were to be interpreted? rapid pace. However, questions remain about the appropriate time The Diagnostic Applications group is considering various models for Roundtableâs plan are the assumptions that: in genomics are changing how we diagnose and treat diseases. recommended genomic services. setting? What are the ethical, legal, and social implications? How will new genomic technologies fit ⢠What was the business model for the test? to move a discovery from the research stage into the clinical setting. demonstrating clinical benefit of innovations. The Clinical Practice Whereas previously, genetic testing could only screen for rare ⢠Health-related research and research funding are driven by into an already overburdened health care system? ⢠What obstacles have the manufacturers or distributors experi- The Roundtable held a public meeting to discuss issues of evidence and Public Health group is examining the value of genetic and genetic disorders, increasingly, patients and their physicians are important health questions. Drug Development enced? Are other obstacles foreseen? in genomic innovations, exploring questions such as: genomic innovations and how value is defined for different stake- able to use genetic information to predict the risk of common dis- ⢠Research spans the translational pathway. ⢠What regulatory issues had to be addressed in bringing the test holders. The Overview group will assemble and analyze the output eases such as diabetes and breast cancer and to help determine This workshop will examine the issue of pre-competitive collabora- With these issues in mind, the National Academies created the Roundtable on Translating ⢠What kind of evidence is necessary to move an innovation into ⢠There is a lack of evidence concerning the clinical utility of genomic to market? of the various groups and develop an overall strategic plan to move prevention and treatment options. Genetic specialists have long tion for genome-based drug development. The drug-development Genomic-Based Research for Health in 2007. The Roundtable brings together experts from aca- practice? health care applications and their optimal delivery. ⢠What evidence base was needed at different stages of transla- the work of the Roundtable forward. been the main providers of genetic services, through an inten- industry has tools and knowledge that could be of benefit to others, ⢠How does the evidence bar change at the different stages of ⢠Clinical utility has multiple components. demia, industry, patient and provider groups, government, and others to hold a conversation of tion? What were the barriers or facilitators to developing the sive counseling model. However, as the shift occurs from testing and at the same time, the industry lacks access to samples that the needed evidence? translation? government holds. The workshop will aim to: how to advance the field of genomics, and in particular, how to improve the translation of research In addition, the Roundtable set two goals for near-term work. for rare genetic disorders to screening for common diseases, it ⢠Is the amount of evidence required the same for all stake- findings into applications that result in real health benefit. One key function of the Roundtable is ⢠Has post-market research been performed? Are there data on holders? MEETINGS AND WORKSHOPS Through the use of workshops, seminars, or commissioned papers: will become necessary for general practitioners, pediatricians, ⢠Elucidate a conceptual framework for the sharing of resources outcomes of testing in clinical settings? Has use of test changed obstetricians/gynecologists, and other providers to be knowledge- ⢠Where are the biggest gaps in evidence? Systems for Research and Evaluation for Translating Genome- from many different stakeholdersâacademia, industry, govern- to identify topics and hold public discussions in order to educate and to engage the public on key with experience? ⢠Discuss approaches to filling evidence gaps in the use of gene- able about and comfortable with using genetic information to ⢠Can one overarching process or set of standards be developed? Based Discoveries for Health â February 12-13, 2009 ment, and others; tic diagnostics or the use of genomics in drug development. better their patientsâ health. issues in the field. ⢠Do evidence standards need to be different by disease? By stake- ⢠Define the rules of engagement for such collaboration; Innovations in Service Delivery in the Age of Genomics â ⢠Explore measures, including further research, to improve or facili- The rapidly advancing field of genomics has stirred great interest in ⢠Look at best practices that make collaboration work; and July 28-29, 2008 holder? tate implementation of genomic health applications that could This report summarizes the workshop presentations and discus- âpersonalizedâ health care from both the public and private sectors. ⢠Identify specific examples from other industries that have The Roundtable has held several public workshops and discussions in 2008-2009, including a ⢠Who should take the lead in compiling evidence, identifying gaps, improve health outcomes. sions that described the current system of genetic service delivery, The Roundtable on Translating Genomic-Based Research for Health A variety of genetically-based health care innovations have already engaged in pre-competitive collaboration. filling gaps? described some pioneering current practice models, and proposed workshop that explored novel ways of delivering genomic services, and a workshop that examined reached the marketplace, but information about the clinical utility held a public workshop regarding service delivery in the age of After developing this strategic plan, the Roundtable small groups of these treatments and diagnostics is limited. Initiatives such as new models for integrating genetic and genomic innovations into Representatives from each constituency will describe their needs, systems designed to facilitate the collection and analysis of genomic data. We have formed several genomics. The current system for delivering genetic services is The Roundtable heard presentations on various strategies for gath- identified workshop topics that would help fulfill these goals (see the National Institutes of Healthâs Genome Wide Association Studies education, training, and clinical practice. the resources they could share, and the issues they foresee in par- working groups to probe more deeply into topics such as population health, issues in drug and test based on a model of intensive counseling for rare diseases. As the ering and evaluating evidence, examined the current landscape of âFuture Activitiesâ for details). use of genomic technology becomes more prevalent, providers evidence, and discussed the challenges and possible solutions to database seek to identify genetic factors that influence health and ticipating in collaborative activities. development, and models for evidence collection. disease. Identifying an association between a gene and a trait or dis- Systems for Research and Evaluation for Translating and patients will need new ways of communicating about genetic the issue of setting standards for evidence to bring genomic innova- Strategic Plan and Goal Setting, Part 2 â November 16-17, 2009 ease does not, however, provide information about how this under- Genome-Based Discoveries for Health â 2009 Diagnostic Applications information and how it may change health care options. Old practice tions to market. As the pace of genomic discoveries quickens, and concerns and questions increase in tandem, the standing could impact clinical care and patient health outcomes. To help guide future activities of the Roundtable, members will invite The Roundtable held a workshop on February 12, 2009, to examine This workshop will define the types of studies needed to generate speakers to discuss a number of issues including pre-competitive existing systems that could be adapted to evaluate the use and Roundtable has the unique opportunity to bring stakeholders and the public together for dialogue The Roundtable identified the need for a workshop to examine sufficient evidence to support claims for different types of diagnos- collaboration, innovative services, and levels of evidence necessary impact of genetically-based innovations in patient care. and debate about areas of uncertainty and the opportunities and challenges that lay ahead. existing systems that create the kinds of resources and structure tics. The Diagnostic Applications group will develop a matrix to look for different stakeholders. that facilitate evaluation of genome-based health care. More specifi- at the type and level of evidence required by different stakeholders, The report summarizes the presentations by the expert panel- cally, the workshop addressed the practical realities of creating such and this matrix will be presented and discussed at the workshop. Sincerely, ists and the open discussions moderated by Roundtable Chair, systems; the different models that could be used; the strengths and PUBLICATIONS Wylie Burke. Chapter 2 provides an overview describing how the Presenters and participants will then discuss the development of an weaknesses of each model; and the effectiveness of such systems incentive-based process that allows for the efficient translation of Diffusion and Use of Genomic Innovations in Health and evidence needed for decision making may vary according to the in addressing health outcomes. genomic tests and biomarkers into effective clinical practice, exam- Medicine â 2008 particular application of the genome-based intervention. Chapters ining what types of incentives would be sufficient and necessary for 3 though 5 summarize the three panel sessions: creating evidence On February 12, 2009, the Roundtable convened a workshop Until fairly recently, genetic information was used primarily in the different stakeholders. systems; current practices in moving from evidence to decision; Wylie Burke, M.D., Ph.D. designed to address four central questions related to the develop- diagnosis of relatively rare genetic diseases, such as cystic fibrosis and gaps in the system for evaluation of genome-based health ment of systems to evaluate health care innovations that stem from and Huntingtonâs Disease, but a transformation in the use of genetic Professor and Chair care. Concluding remarks are provided in Chapter 6, and the genome-based research: and genomic information is under way. While many predictions have Department of Bioethics & Humanities workshop agenda and biographical sketches of the panelists are ⢠What are the practical realities of creating such systems? been made that genomics will transform medicine, to date few of available in the appendixes. University of Washington these promising discoveries have resulted in actual applications in ⢠What are the different models that could be used? ⢠What are the strengths and weaknesses of each model? medicine and health. ⢠How effectively can such systems address questions about health outcomes?
ABOUT THE ROUNDTABLE MEMBERSHIP The Institute of Medicine Roundtable on Translating Genomic-Based Research for Health brings Membership of the Roundtable includes a diverse range of stakeholders, including government, the pharmaceutical together leaders from academia, industry, government, foundations, and associations who have a industry, academic health centers, researchers, associations, patient advocates, and others. mutual interest in addressing the issues surrounding the translation of genomic-based research. The mission of the Roundtable is to advance the field of genomics and improve the translation of research findings to health care, education, and policy. WYLIE BURKE, M.D., Ph.D. (Chair) GARRY NEIL, M.D. Translating genomic innovations involves many disciplines, and takes place within different economic, University of Washington Johnson & Johnson 2 0 0 8 -2 0 0 9 A N N U A L R E P O R T social, and cultural contexts, generating a need for increased communication and understanding ROBERT L. NUSSBAUM, M.D. BRUCE BLUMBERG, M.D. across these fields. Furthermore, these innovations have produced a diversity of new issues to be Kaiser Permanente University of California, San Francisco, School of Medicine addressed, including issues such as evidence of utility, economic implications, equal access, and pub- lic perspectives. As a convening mechanism for interested parties from different perspectives to meet C. THOMAS CASKEY, M.D., F.A.C.P. KIMBERLY J. POPOVITS and discuss complex issues of mutual concern in a neutral setting, the Roundtable fosters dialogue across sectors and institutions and fosters collaboration among stakeholders. University of Texas Health Science Center at Houston Genomic Health, Inc. AIDAN POWER, M.B., B.Ch., M.Sc., M.R.C.Psych. Pfizer, Inc. ROUNDTABLE ON STEPHEN ECK, M.D., Ph.D. To achieve its objectives, the Roundtable conducts structured discussions, workshops, and sympo- TRANSLATING Eli Lilly and Company sia, and publishes workshop summaries. Specific issues and agenda topics are determined by the RONALD PRZYGODZKI, M.D. Roundtable membership and span a broad range of issues relevant to the translation process. FAITH T. FITZGERALD, M.D., MACP Department of Veterans Affairs SPONSORSHIP American College of Physicians AMELIE G. RAMIREZ, Dr.P.H. 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 American College of Medical Genetics Genomic Health, Inc. ANDREW N. FREEDMAN, Ph.D. National Cancer Institute University of Texas Health Science Center at San Antonio GENOMIC-BASED public. The mission of the Institute of Medicine embraces the health of people everywhere. American College of Physicians Human Resources and Services Administration GEOFFREY GINSBURG, M.D., Ph.D. LAURA LYMAN RODRIGUEZ, Ph.D. ROUNDTABLE STAFF American Medical Association American Nurses Association Johnson & Johnson Kaiser Permanente Duke University R. RODNEY HOWELL, M.D. National Human Genome Research Institute ALLEN D. ROSES, Ph.D. Duke University RESEARCH AstraZeneca Pharmaceuticals, Inc. National Cancer Institute National Institute of Child Health and LYLA M. HERNANDEZ Director BlueCross/BlueShield Association Centers for Disease Control and Prevention National Heart, Lung, and Blood Institute National Human Genome Research Institute Human Development KATHY HUDSON, Ph.D. Genetics and Public Policy Center STEPHEN G. RYAN, M.D. AstraZeneca Pharmaceuticals FOR HEALTH ERIN HAMMERS College of American Pathologists National Institute of Child Health and Human Development KEVIN A. SCHULMAN, M.D. Research Associate SHARON KARDIA, Ph.D. Duke University Department of Veterans Affairs National Society of Genetic Counselors University of Michigan, School of Public Health ALEX REPACE Eli Lilly and Company Pfizer, Inc. SHARON TERRY Senior Program Assistant MOHAMED KHAN, M.D., Ph.D. Genetic Alliance Genetic Alliance Secretaryâs Advisory Committee on Genetics, Health and Society American Medical Association STEVEN TEUTSCH, M.D., Ph.D. ANDREW POPE MUIN KHOURY, M.D., Ph.D. Secretaryâs Advisory Committee on Genetics, Director, Board on Health Sciences Policy Centers for Disease Control and Prevention Health and Society ROUNDTABLE 2008-2009 FUNDING ALLAN KORN, M.D. MARTHA TURNER, Ph.D., R.N., B.C., C.N.A.A. CONTACT BlueCross/BlueShield Association American Nurses Association For more information about the Roundtable on Translating Genomic-Based Research for Health, please visit our website at: MICHAEL S. LAUER, M.D., F.A.C.C., F.A.H.A. MICHAEL S. WATSON, Ph.D. National Heart, Lung, and Blood Institute American College of Medical Genetics www.iom.edu/genomicroundtable FEDERAL, 32% DEBRA LEONARD, M.D., Ph.D. CATHERINE A. WICKLUND, M.S., CGC 500 Fifth Street, N.W., Washington, DC 20001 National Society of Genetic Counselors INDUSTRY, 45% College of American Pathologists MICHELE LLOYD-PURYEAR, M.D., Ph.D. JANET WOODCOCK, M.D. BOARD ON Health Resources and Services Administration Food and Drug Administration H E A LT H SCIENCES NON-PROFIT, 23% POLICY
