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BOARD ON HEALTH SCIENCES POLICY About the Roundtable The Institute of Medicineâs Roundtable on Translating Genomic-Based Research for Health brings together leaders from academia, industry, government, foundations, associations, and representatives of patients and consumers who have a mutual interest in addressing the issues surrounding the translation of genomic-based research. The purpose of the Roundtable is to explore and implement strategies for improving health through the translation of genomic and Sponsors Roundtable Members Roundtable on Translating Genomic-Based Research for Health (as of December 2010) (as of December 2010) 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 American College of Medical Genetics Wylie Burke, M.D., Ph.D. (Chair) Sharon Terry, M.A. 2010 Annual Report understanding across these fields. Furthermore, these innovations have produced a diversity University of Washington Genetic Alliance of new issues to be addressed, including issues such as evidence of utility, economic implications, American Medical Association equal access, and public perspectives. As a convening mechanism for interested parties with Naomi Aronson, Ph.D. Martha Turner, Ph.D., R.N., B.C., C.N.A.A. American Nurses Association Blue Cross and Blue Shield Association American Nurses Association different perspectives to meet and discuss complex issues of mutual concern in a neutral setting, the Roundtable fosters dialogue across sectors and institutions and fosters collaboration Blue Cross and Blue Shield Association Bruce Blumberg, M.D. Michael S. Watson, Ph.D. among stakeholders. Centers for Disease Control and Prevention Kaiser Permanente American College of Medical Genetics The priorities and areas of emphasis for the Roundtable include: 1) issues related to the translation College of American Pathologists Denise E. Bonds, M.D., M.P.H. Daniel Wattendorf, M.D. (Lt. Col) of genomics into medicine and public health; 2) issues related to the evolving requirements for National Heart, Lung, and Blood Institute Department of the Air Force Department of the Air Force the health professional community, and the need to be able to understand and responsibly apply C. Thomas Caskey, M.D., FACP Catherine A. Wicklund, M.S., C.G.C. genomics to medicine and public health; and 3) ethical, legal, and social issues such as the potential Department of Veterans Affairs University of Texas Health Science Center at Houston National Society of Genetic Counselors for misuse of genetic information; the medical implications for family members; and the rights Eli Lilly and Company Stephen Eck, M.D., Ph.D. of an individual, family, or community to control the use and dissemination of genetic information. Eli Lilly and Company Genetic Alliance To achieve its objectives, the Roundtable conducts structured discussions, workshops, and sympo- Health Resources and Services Administration W. Gregory Feero, M.D., Ph.D. sia, and publishes workshop summaries. Specific issues and agenda topics are determined by the National Human Genome Research Institute Roundtable membership and span a broad range of issues relevant to the translation process. Johnson & Johnson Andrew N. Freedman, Ph.D. Kaiser Permanente National Cancer Institute Roundtable Staff Adam C. Berger, Ph.D. National Cancer Institute Geoffrey Ginsburg, M.D., Ph.D. Project Director National Heart, Lung, and Blood Institute Duke University Claire Giammaria, M.P.H. Sharon Kardia, Ph.D. National Human Genome Research Institute Research Associate University of Michigan School of Public Health Tonia Dickerson National Society of Genetic Counselors Mohamed Khan, M.D., Ph.D. Senior Program Assistant Pfizer Inc. American Medical Association Muin Khoury, M.D., Ph.D. Board on Health Sciences Policy Staff Centers for Disease Control and Prevention Andrew Pope, Ph.D. Director 2010 Roundtable Funding Debra Leonard, M.D., Ph.D. College of American Pathologists Contact Michele Lloyd-Puryear, M.D., Ph.D. For more information about the Roundtable on Translating Genomic-Based Health Resources and Services Administration Research for Health, please visit our website at www.iom.edu/genomicroundtable Elizabeth Mansfield, Ph.D. Federal Industry or call Adam Berger at (202)â334-3756. Food & Drug Administration Garry Neil, M.D. 35% Johnson & Johnson 45% Robert L. Nussbaum, M.D. University of California San Francisco School of Medicine Aidan Power, M.B., B.Ch., M.Sc., M.R.C.Psych. 20% Pfizer Inc. Ronald Przygodzki, M.D. Department of Veterans Affairs Allen D. Roses, Ph.D. Non-profit Duke University Kevin A. Schulman, M.D. Duke University 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 policymakers, health professionals, the private sector, and the public. The mission of the Institute of Medicine embraces the health of people everywhere.
Roundtable Activities in 2010 Message from the Chair Roundtable Meetings The Roundtable met three times in 2010 Challenges and Opportunities in Using Residual Newborn Screening Samples Establishing Precompetitive Collaborations to Stimulate Genomics- to discuss various issues related to the for Translational Research: A Workshop Driven Product Development: A Workshop translation of genomics into health care (May 2010) (July 2010) Over the past decade, remarkable progress has been made through advances in genomics, advances. Topics which were discussed Over 4 million infants a year are screened Biological specimens stored by investigators from the identification of genes associated with disease processes to the development included impediments to bringing basic for serious or life-threatening treatable in industry and academia provide a significant of pharmacogenetic tests which can minimize adverse side effects and increase treatment research discoveries into clinical trials, disorders in the United States through the untapped resource of genetic and genomic efficacy. These discoveries reveal the significant potential for benefit from this rapidly bioethical considerations surrounding collection and testing of blood samples information that can be used to develop growing area of scienceâhowever, the pathway from discovery to health benefit is still the translation of genomics, and funding shortly after birth. Individual states store individualized treatment regimens or even unclear for much of genome research and many questions remain. How can the discovery challenges and solutions for progressing these samples not only for use in newborn drug and diagnostic devices. Having human Roundtable Activities Working Groups innovative translational research. screening, but also for quality control of specimens available from well-designed of gene variants or linkages between diseases and biological pathways be leveraged to improve treatment or prevention? What are ethically sound procedures for developing current tests, the development of new tests, clinical studies for precompetitive use can in 2011 biobanks or using existing samples to address a new emerging question? What research The Value of Genetic and Genomic forensic studies, and epidemiological pur- offer substantial benefits to all parties; infrastructures are needed to expedite genomics translation and how should they Technologies: A Workshop (March 2010) poses. The Roundtable hosted a workshop however, with this type of sharing a number Roundtable Meetings The Roundtable has formed four working sharing of biological samples and associated be funded? Different stakeholders have very different to examine the need to balance the public of issues have to be overcome. The Roundtable The Roundtable members will meet in groups which focus on various aspects of data, and bridging the âvalley of deathâ in views on what they require to integrate health benefits of using these samples for hosted a workshop that performed an February, July, and November of 2011 to translating genomic advances into health. drug development. This group is currently The Roundtable on Translating Genomic-Based Research for Health offers a unique genomic technologies into their health care research purposes with the ethical, legal, in-depth examination of the issues that are continue their discussions on emerging Members of each group meet regularly following-up on efforts begun during the venue for experts from academia, industry, patient and provider groups, government, decisions. The Roundtable held a workshop and social issues surrounding such use currently preventing the precompetitive and enduring issues to advance the field of by teleconference as well as in-person at Roundtableâs July 2010 workshop to deter- and others to collaborate in addressing these challenging issues in the translation of to examine what would be needed to compel by ensuring that different stakeholder per- sharing of resources with a goal to facilitate genomics. Meeting topics currently include Roundtable meetings to converse about mat- mine the necessary framework for using genomics-based research findings. Our goal is to stimulate honest and frank discussion an individual to utilize a genomic technology spectives were identified and considered. and enable precompetitive collaborations. the economics of genomics and personalized ters of mutual interest. Potential workshop, precompetitive collaborations to speed the among members and outside experts, to clarify barriers to effective translation, and if one were available. Some of the issues This workshop helped inform the report Discussions addressed specific examples medicine, health information technology seminar, or commissioned paper topics are also development of new drugs. promote partnerships that will expedite the benefits of genomic research. raised at this workshop included the available on the use of dried blood spots to the from other industries, examined best practices and genomics, and workforce and education developed by each group and presented to the research infrastructure and funding for stud- Secretary of Health and Human Services that make collaboration work, and sought issues surrounding the application of full Roundtable membership for discussion. Diagnostic Applications During this past year, the Roundtable sponsored four workshops and three separate ies to produce the evidentiary basis for clinical from the Secretaryâs Advisory Committee to develop a framework for advancing these genomics to clinical practice. The Diagnostic Applications working group discussions which have addressed key questions in the pathway of translating genomic utility; the need for an adequate evidence base on Heritable Disorders in Newborns and partnerships. A summary of this workshop Clinical Practice and Public Health discusses a variety of issues related to the discoveries. Each activity has brought together diverse stakeholder views and explored for clinical and public health decision-making; Children. A summary of this workshop is will be available from the Roundtable website. The Implementation of Industrial Scale This working group was formed to focus on development and application of genomics controversies and common ground as well as potential solutions for advancing the field. and the requirements for implementing available from the Roundtable website. Genomic Information into Clinical Practiceâ issues related to the application of genetic and and genetics based diagnostic, prognostic, We have an ambitious agenda for 2011 which includes examinations of issues such as the economics of personalized medicine, health information technology and genomics, genetic and genomic technologies into clinical Evidence Generation for Genomic The Intersection of Bioinformatics and genomic technologies to clinical and public predictive, and population screening tests. education of the healthcare workforce, and the implementation of industrial scale practice. A summary of this workshop is Diagnostic Test Development: A Workshop Clinical Genomics: A Workshop (July 2011) health practice. Members examine issues such Members have discussed issues ranging from genomic information into clinical practice. We look forward to another year where available from the Roundtable website. (November 2010) The integration of the large amount of patient- as research and infrastructure requirements, the development of new model pathways the Roundtable can help progress the field toward realizing the promise of genomics. Since sequencing the human genome, specific data that are generated through service delivery and clinical decision-making of moving discoveries to the clinic to the scientists have discovered a number of links genetic and genomic analyses into clinical needs, and workforce concerns to develop evidence gap for genomic tests. between genetic variations and disease, and practice will pose a number of questions and and apply genomic advances in health care Sincerely, New Publications have developed genomic and genetic tests challenges for the current health care sys- settings. The group is currently developing Emerging Issues based on these findings. However, clinical tem. The Roundtable will host a workshop to a workshop aimed at understanding and pre- This working group was established by the practitioners have yet to employ many of examine issues related to the implementation paring for the integration of data from tech- Roundtable in order to identify, examine, and these tests as there is a lack of evidence of these technologies including the bioin- nologies such as whole genome sequencing quickly respond to timely issues of significant Wylie Burke, MD, PhD of clinical utility. The Roundtable hosted formatics needs for proper evaluation and in a clinically relevant manner. importance where the input of the Roundtable Professor and Chair a workshop to explore current approaches re-evaluation of clinically relevant data, cross would be a valuable asset to the larger public Department of Bioethics & Humanities to, new models for, and barriers to generat- communication abilities of the bioinformatics Drug Development Informed by discussion. Members meet to discuss potential University of Washington ing evidence as well as potential solutions and clinical genetics workforce, the addition Genetics and Genomics topics and have developed activities such as to overcome these obstacles. A summary and interpretation of external factors such The Roundtable established a working group the May 2010 workshop on the use of residual The Value of Genetic and Challenges and Opportunities Establishing Precompetitive of this workshop will be available from the as epigenetics and environmental influences to examine the translation of genomic knowl- newborn screening samples for translational Genomic Technologies: in Using Residual Newborn Collaborations to Stimulate Roundtable website. on the genome, and ethical issues such edge into drug treatment. Topics of discussion research. Members will continue to identify, Workshop Summary (2010) Screening Samples for Genomics Driven Product Translational Research: Development: Workshop as informed consent and stewardship over include advancing pharmacogenomics, the prioritize, and engage on issues as they arise. Workshop Summary (2010) Summary (2010) this information.
Roundtable Activities in 2010 Message from the Chair Roundtable Meetings The Roundtable met three times in 2010 Challenges and Opportunities in Using Residual Newborn Screening Samples Establishing Precompetitive Collaborations to Stimulate Genomics- to discuss various issues related to the for Translational Research: A Workshop Driven Product Development: A Workshop translation of genomics into health care (May 2010) (July 2010) Over the past decade, remarkable progress has been made through advances in genomics, advances. Topics which were discussed Over 4 million infants a year are screened Biological specimens stored by investigators from the identification of genes associated with disease processes to the development included impediments to bringing basic for serious or life-threatening treatable in industry and academia provide a significant of pharmacogenetic tests which can minimize adverse side effects and increase treatment research discoveries into clinical trials, disorders in the United States through the untapped resource of genetic and genomic efficacy. These discoveries reveal the significant potential for benefit from this rapidly bioethical considerations surrounding collection and testing of blood samples information that can be used to develop growing area of scienceâhowever, the pathway from discovery to health benefit is still the translation of genomics, and funding shortly after birth. Individual states store individualized treatment regimens or even unclear for much of genome research and many questions remain. How can the discovery challenges and solutions for progressing these samples not only for use in newborn drug and diagnostic devices. Having human Roundtable Activities Working Groups innovative translational research. screening, but also for quality control of specimens available from well-designed of gene variants or linkages between diseases and biological pathways be leveraged to improve treatment or prevention? What are ethically sound procedures for developing current tests, the development of new tests, clinical studies for precompetitive use can in 2011 biobanks or using existing samples to address a new emerging question? What research The Value of Genetic and Genomic forensic studies, and epidemiological pur- offer substantial benefits to all parties; infrastructures are needed to expedite genomics translation and how should they Technologies: A Workshop (March 2010) poses. The Roundtable hosted a workshop however, with this type of sharing a number Roundtable Meetings The Roundtable has formed four working sharing of biological samples and associated be funded? Different stakeholders have very different to examine the need to balance the public of issues have to be overcome. The Roundtable The Roundtable members will meet in groups which focus on various aspects of data, and bridging the âvalley of deathâ in views on what they require to integrate health benefits of using these samples for hosted a workshop that performed an February, July, and November of 2011 to translating genomic advances into health. drug development. This group is currently The Roundtable on Translating Genomic-Based Research for Health offers a unique genomic technologies into their health care research purposes with the ethical, legal, in-depth examination of the issues that are continue their discussions on emerging Members of each group meet regularly following-up on efforts begun during the venue for experts from academia, industry, patient and provider groups, government, decisions. The Roundtable held a workshop and social issues surrounding such use currently preventing the precompetitive and enduring issues to advance the field of by teleconference as well as in-person at Roundtableâs July 2010 workshop to deter- and others to collaborate in addressing these challenging issues in the translation of to examine what would be needed to compel by ensuring that different stakeholder per- sharing of resources with a goal to facilitate genomics. Meeting topics currently include Roundtable meetings to converse about mat- mine the necessary framework for using genomics-based research findings. Our goal is to stimulate honest and frank discussion an individual to utilize a genomic technology spectives were identified and considered. and enable precompetitive collaborations. the economics of genomics and personalized ters of mutual interest. Potential workshop, precompetitive collaborations to speed the among members and outside experts, to clarify barriers to effective translation, and if one were available. Some of the issues This workshop helped inform the report Discussions addressed specific examples medicine, health information technology seminar, or commissioned paper topics are also development of new drugs. promote partnerships that will expedite the benefits of genomic research. raised at this workshop included the available on the use of dried blood spots to the from other industries, examined best practices and genomics, and workforce and education developed by each group and presented to the research infrastructure and funding for stud- Secretary of Health and Human Services that make collaboration work, and sought issues surrounding the application of full Roundtable membership for discussion. Diagnostic Applications During this past year, the Roundtable sponsored four workshops and three separate ies to produce the evidentiary basis for clinical from the Secretaryâs Advisory Committee to develop a framework for advancing these genomics to clinical practice. The Diagnostic Applications working group discussions which have addressed key questions in the pathway of translating genomic utility; the need for an adequate evidence base on Heritable Disorders in Newborns and partnerships. A summary of this workshop Clinical Practice and Public Health discusses a variety of issues related to the discoveries. Each activity has brought together diverse stakeholder views and explored for clinical and public health decision-making; Children. A summary of this workshop is will be available from the Roundtable website. The Implementation of Industrial Scale This working group was formed to focus on development and application of genomics controversies and common ground as well as potential solutions for advancing the field. and the requirements for implementing available from the Roundtable website. Genomic Information into Clinical Practiceâ issues related to the application of genetic and and genetics based diagnostic, prognostic, We have an ambitious agenda for 2011 which includes examinations of issues such as the economics of personalized medicine, health information technology and genomics, genetic and genomic technologies into clinical Evidence Generation for Genomic The Intersection of Bioinformatics and genomic technologies to clinical and public predictive, and population screening tests. education of the healthcare workforce, and the implementation of industrial scale practice. A summary of this workshop is Diagnostic Test Development: A Workshop Clinical Genomics: A Workshop (July 2011) health practice. Members examine issues such Members have discussed issues ranging from genomic information into clinical practice. We look forward to another year where available from the Roundtable website. (November 2010) The integration of the large amount of patient- as research and infrastructure requirements, the development of new model pathways the Roundtable can help progress the field toward realizing the promise of genomics. Since sequencing the human genome, specific data that are generated through service delivery and clinical decision-making of moving discoveries to the clinic to the scientists have discovered a number of links genetic and genomic analyses into clinical needs, and workforce concerns to develop evidence gap for genomic tests. between genetic variations and disease, and practice will pose a number of questions and and apply genomic advances in health care Sincerely, New Publications have developed genomic and genetic tests challenges for the current health care sys- settings. The group is currently developing Emerging Issues based on these findings. However, clinical tem. The Roundtable will host a workshop to a workshop aimed at understanding and pre- This working group was established by the practitioners have yet to employ many of examine issues related to the implementation paring for the integration of data from tech- Roundtable in order to identify, examine, and these tests as there is a lack of evidence of these technologies including the bioin- nologies such as whole genome sequencing quickly respond to timely issues of significant Wylie Burke, MD, PhD of clinical utility. The Roundtable hosted formatics needs for proper evaluation and in a clinically relevant manner. importance where the input of the Roundtable Professor and Chair a workshop to explore current approaches re-evaluation of clinically relevant data, cross would be a valuable asset to the larger public Department of Bioethics & Humanities to, new models for, and barriers to generat- communication abilities of the bioinformatics Drug Development Informed by discussion. Members meet to discuss potential University of Washington ing evidence as well as potential solutions and clinical genetics workforce, the addition Genetics and Genomics topics and have developed activities such as to overcome these obstacles. A summary and interpretation of external factors such The Roundtable established a working group the May 2010 workshop on the use of residual The Value of Genetic and Challenges and Opportunities Establishing Precompetitive of this workshop will be available from the as epigenetics and environmental influences to examine the translation of genomic knowl- newborn screening samples for translational Genomic Technologies: in Using Residual Newborn Collaborations to Stimulate Roundtable website. on the genome, and ethical issues such edge into drug treatment. Topics of discussion research. Members will continue to identify, Workshop Summary (2010) Screening Samples for Genomics Driven Product Translational Research: Development: Workshop as informed consent and stewardship over include advancing pharmacogenomics, the prioritize, and engage on issues as they arise. Workshop Summary (2010) Summary (2010) this information.
Roundtable Activities in 2010 Message from the Chair Roundtable Meetings The Roundtable met three times in 2010 Challenges and Opportunities in Using Residual Newborn Screening Samples Establishing Precompetitive Collaborations to Stimulate Genomics- to discuss various issues related to the for Translational Research: A Workshop Driven Product Development: A Workshop translation of genomics into health care (May 2010) (July 2010) Over the past decade, remarkable progress has been made through advances in genomics, advances. Topics which were discussed Over 4 million infants a year are screened Biological specimens stored by investigators from the identification of genes associated with disease processes to the development included impediments to bringing basic for serious or life-threatening treatable in industry and academia provide a significant of pharmacogenetic tests which can minimize adverse side effects and increase treatment research discoveries into clinical trials, disorders in the United States through the untapped resource of genetic and genomic efficacy. These discoveries reveal the significant potential for benefit from this rapidly bioethical considerations surrounding collection and testing of blood samples information that can be used to develop growing area of scienceâhowever, the pathway from discovery to health benefit is still the translation of genomics, and funding shortly after birth. Individual states store individualized treatment regimens or even unclear for much of genome research and many questions remain. How can the discovery challenges and solutions for progressing these samples not only for use in newborn drug and diagnostic devices. Having human Roundtable Activities Working Groups innovative translational research. screening, but also for quality control of specimens available from well-designed of gene variants or linkages between diseases and biological pathways be leveraged to improve treatment or prevention? What are ethically sound procedures for developing current tests, the development of new tests, clinical studies for precompetitive use can in 2011 biobanks or using existing samples to address a new emerging question? What research The Value of Genetic and Genomic forensic studies, and epidemiological pur- offer substantial benefits to all parties; infrastructures are needed to expedite genomics translation and how should they Technologies: A Workshop (March 2010) poses. The Roundtable hosted a workshop however, with this type of sharing a number Roundtable Meetings The Roundtable has formed four working sharing of biological samples and associated be funded? Different stakeholders have very different to examine the need to balance the public of issues have to be overcome. The Roundtable The Roundtable members will meet in groups which focus on various aspects of data, and bridging the âvalley of deathâ in views on what they require to integrate health benefits of using these samples for hosted a workshop that performed an February, July, and November of 2011 to translating genomic advances into health. drug development. This group is currently The Roundtable on Translating Genomic-Based Research for Health offers a unique genomic technologies into their health care research purposes with the ethical, legal, in-depth examination of the issues that are continue their discussions on emerging Members of each group meet regularly following-up on efforts begun during the venue for experts from academia, industry, patient and provider groups, government, decisions. The Roundtable held a workshop and social issues surrounding such use currently preventing the precompetitive and enduring issues to advance the field of by teleconference as well as in-person at Roundtableâs July 2010 workshop to deter- and others to collaborate in addressing these challenging issues in the translation of to examine what would be needed to compel by ensuring that different stakeholder per- sharing of resources with a goal to facilitate genomics. Meeting topics currently include Roundtable meetings to converse about mat- mine the necessary framework for using genomics-based research findings. Our goal is to stimulate honest and frank discussion an individual to utilize a genomic technology spectives were identified and considered. and enable precompetitive collaborations. the economics of genomics and personalized ters of mutual interest. Potential workshop, precompetitive collaborations to speed the among members and outside experts, to clarify barriers to effective translation, and if one were available. Some of the issues This workshop helped inform the report Discussions addressed specific examples medicine, health information technology seminar, or commissioned paper topics are also development of new drugs. promote partnerships that will expedite the benefits of genomic research. raised at this workshop included the available on the use of dried blood spots to the from other industries, examined best practices and genomics, and workforce and education developed by each group and presented to the research infrastructure and funding for stud- Secretary of Health and Human Services that make collaboration work, and sought issues surrounding the application of full Roundtable membership for discussion. Diagnostic Applications During this past year, the Roundtable sponsored four workshops and three separate ies to produce the evidentiary basis for clinical from the Secretaryâs Advisory Committee to develop a framework for advancing these genomics to clinical practice. The Diagnostic Applications working group discussions which have addressed key questions in the pathway of translating genomic utility; the need for an adequate evidence base on Heritable Disorders in Newborns and partnerships. A summary of this workshop Clinical Practice and Public Health discusses a variety of issues related to the discoveries. Each activity has brought together diverse stakeholder views and explored for clinical and public health decision-making; Children. A summary of this workshop is will be available from the Roundtable website. The Implementation of Industrial Scale This working group was formed to focus on development and application of genomics controversies and common ground as well as potential solutions for advancing the field. and the requirements for implementing available from the Roundtable website. Genomic Information into Clinical Practiceâ issues related to the application of genetic and and genetics based diagnostic, prognostic, We have an ambitious agenda for 2011 which includes examinations of issues such as the economics of personalized medicine, health information technology and genomics, genetic and genomic technologies into clinical Evidence Generation for Genomic The Intersection of Bioinformatics and genomic technologies to clinical and public predictive, and population screening tests. education of the healthcare workforce, and the implementation of industrial scale practice. A summary of this workshop is Diagnostic Test Development: A Workshop Clinical Genomics: A Workshop (July 2011) health practice. Members examine issues such Members have discussed issues ranging from genomic information into clinical practice. We look forward to another year where available from the Roundtable website. (November 2010) The integration of the large amount of patient- as research and infrastructure requirements, the development of new model pathways the Roundtable can help progress the field toward realizing the promise of genomics. Since sequencing the human genome, specific data that are generated through service delivery and clinical decision-making of moving discoveries to the clinic to the scientists have discovered a number of links genetic and genomic analyses into clinical needs, and workforce concerns to develop evidence gap for genomic tests. between genetic variations and disease, and practice will pose a number of questions and and apply genomic advances in health care Sincerely, New Publications have developed genomic and genetic tests challenges for the current health care sys- settings. The group is currently developing Emerging Issues based on these findings. However, clinical tem. The Roundtable will host a workshop to a workshop aimed at understanding and pre- This working group was established by the practitioners have yet to employ many of examine issues related to the implementation paring for the integration of data from tech- Roundtable in order to identify, examine, and these tests as there is a lack of evidence of these technologies including the bioin- nologies such as whole genome sequencing quickly respond to timely issues of significant Wylie Burke, MD, PhD of clinical utility. The Roundtable hosted formatics needs for proper evaluation and in a clinically relevant manner. importance where the input of the Roundtable Professor and Chair a workshop to explore current approaches re-evaluation of clinically relevant data, cross would be a valuable asset to the larger public Department of Bioethics & Humanities to, new models for, and barriers to generat- communication abilities of the bioinformatics Drug Development Informed by discussion. Members meet to discuss potential University of Washington ing evidence as well as potential solutions and clinical genetics workforce, the addition Genetics and Genomics topics and have developed activities such as to overcome these obstacles. A summary and interpretation of external factors such The Roundtable established a working group the May 2010 workshop on the use of residual The Value of Genetic and Challenges and Opportunities Establishing Precompetitive of this workshop will be available from the as epigenetics and environmental influences to examine the translation of genomic knowl- newborn screening samples for translational Genomic Technologies: in Using Residual Newborn Collaborations to Stimulate Roundtable website. on the genome, and ethical issues such edge into drug treatment. Topics of discussion research. Members will continue to identify, Workshop Summary (2010) Screening Samples for Genomics Driven Product Translational Research: Development: Workshop as informed consent and stewardship over include advancing pharmacogenomics, the prioritize, and engage on issues as they arise. Workshop Summary (2010) Summary (2010) this information.
Roundtable Activities in 2010 Message from the Chair Roundtable Meetings The Roundtable met three times in 2010 Challenges and Opportunities in Using Residual Newborn Screening Samples Establishing Precompetitive Collaborations to Stimulate Genomics- to discuss various issues related to the for Translational Research: A Workshop Driven Product Development: A Workshop translation of genomics into health care (May 2010) (July 2010) Over the past decade, remarkable progress has been made through advances in genomics, advances. Topics which were discussed Over 4 million infants a year are screened Biological specimens stored by investigators from the identification of genes associated with disease processes to the development included impediments to bringing basic for serious or life-threatening treatable in industry and academia provide a significant of pharmacogenetic tests which can minimize adverse side effects and increase treatment research discoveries into clinical trials, disorders in the United States through the untapped resource of genetic and genomic efficacy. These discoveries reveal the significant potential for benefit from this rapidly bioethical considerations surrounding collection and testing of blood samples information that can be used to develop growing area of scienceâhowever, the pathway from discovery to health benefit is still the translation of genomics, and funding shortly after birth. Individual states store individualized treatment regimens or even unclear for much of genome research and many questions remain. How can the discovery challenges and solutions for progressing these samples not only for use in newborn drug and diagnostic devices. Having human Roundtable Activities Working Groups innovative translational research. screening, but also for quality control of specimens available from well-designed of gene variants or linkages between diseases and biological pathways be leveraged to improve treatment or prevention? What are ethically sound procedures for developing current tests, the development of new tests, clinical studies for precompetitive use can in 2011 biobanks or using existing samples to address a new emerging question? What research The Value of Genetic and Genomic forensic studies, and epidemiological pur- offer substantial benefits to all parties; infrastructures are needed to expedite genomics translation and how should they Technologies: A Workshop (March 2010) poses. The Roundtable hosted a workshop however, with this type of sharing a number Roundtable Meetings The Roundtable has formed four working sharing of biological samples and associated be funded? Different stakeholders have very different to examine the need to balance the public of issues have to be overcome. The Roundtable The Roundtable members will meet in groups which focus on various aspects of data, and bridging the âvalley of deathâ in views on what they require to integrate health benefits of using these samples for hosted a workshop that performed an February, July, and November of 2011 to translating genomic advances into health. drug development. This group is currently The Roundtable on Translating Genomic-Based Research for Health offers a unique genomic technologies into their health care research purposes with the ethical, legal, in-depth examination of the issues that are continue their discussions on emerging Members of each group meet regularly following-up on efforts begun during the venue for experts from academia, industry, patient and provider groups, government, decisions. The Roundtable held a workshop and social issues surrounding such use currently preventing the precompetitive and enduring issues to advance the field of by teleconference as well as in-person at Roundtableâs July 2010 workshop to deter- and others to collaborate in addressing these challenging issues in the translation of to examine what would be needed to compel by ensuring that different stakeholder per- sharing of resources with a goal to facilitate genomics. Meeting topics currently include Roundtable meetings to converse about mat- mine the necessary framework for using genomics-based research findings. Our goal is to stimulate honest and frank discussion an individual to utilize a genomic technology spectives were identified and considered. and enable precompetitive collaborations. the economics of genomics and personalized ters of mutual interest. Potential workshop, precompetitive collaborations to speed the among members and outside experts, to clarify barriers to effective translation, and if one were available. Some of the issues This workshop helped inform the report Discussions addressed specific examples medicine, health information technology seminar, or commissioned paper topics are also development of new drugs. promote partnerships that will expedite the benefits of genomic research. raised at this workshop included the available on the use of dried blood spots to the from other industries, examined best practices and genomics, and workforce and education developed by each group and presented to the research infrastructure and funding for stud- Secretary of Health and Human Services that make collaboration work, and sought issues surrounding the application of full Roundtable membership for discussion. Diagnostic Applications During this past year, the Roundtable sponsored four workshops and three separate ies to produce the evidentiary basis for clinical from the Secretaryâs Advisory Committee to develop a framework for advancing these genomics to clinical practice. The Diagnostic Applications working group discussions which have addressed key questions in the pathway of translating genomic utility; the need for an adequate evidence base on Heritable Disorders in Newborns and partnerships. A summary of this workshop Clinical Practice and Public Health discusses a variety of issues related to the discoveries. Each activity has brought together diverse stakeholder views and explored for clinical and public health decision-making; Children. A summary of this workshop is will be available from the Roundtable website. The Implementation of Industrial Scale This working group was formed to focus on development and application of genomics controversies and common ground as well as potential solutions for advancing the field. and the requirements for implementing available from the Roundtable website. Genomic Information into Clinical Practiceâ issues related to the application of genetic and and genetics based diagnostic, prognostic, We have an ambitious agenda for 2011 which includes examinations of issues such as the economics of personalized medicine, health information technology and genomics, genetic and genomic technologies into clinical Evidence Generation for Genomic The Intersection of Bioinformatics and genomic technologies to clinical and public predictive, and population screening tests. education of the healthcare workforce, and the implementation of industrial scale practice. A summary of this workshop is Diagnostic Test Development: A Workshop Clinical Genomics: A Workshop (July 2011) health practice. Members examine issues such Members have discussed issues ranging from genomic information into clinical practice. We look forward to another year where available from the Roundtable website. (November 2010) The integration of the large amount of patient- as research and infrastructure requirements, the development of new model pathways the Roundtable can help progress the field toward realizing the promise of genomics. Since sequencing the human genome, specific data that are generated through service delivery and clinical decision-making of moving discoveries to the clinic to the scientists have discovered a number of links genetic and genomic analyses into clinical needs, and workforce concerns to develop evidence gap for genomic tests. between genetic variations and disease, and practice will pose a number of questions and and apply genomic advances in health care Sincerely, New Publications have developed genomic and genetic tests challenges for the current health care sys- settings. The group is currently developing Emerging Issues based on these findings. However, clinical tem. The Roundtable will host a workshop to a workshop aimed at understanding and pre- This working group was established by the practitioners have yet to employ many of examine issues related to the implementation paring for the integration of data from tech- Roundtable in order to identify, examine, and these tests as there is a lack of evidence of these technologies including the bioin- nologies such as whole genome sequencing quickly respond to timely issues of significant Wylie Burke, MD, PhD of clinical utility. The Roundtable hosted formatics needs for proper evaluation and in a clinically relevant manner. importance where the input of the Roundtable Professor and Chair a workshop to explore current approaches re-evaluation of clinically relevant data, cross would be a valuable asset to the larger public Department of Bioethics & Humanities to, new models for, and barriers to generat- communication abilities of the bioinformatics Drug Development Informed by discussion. Members meet to discuss potential University of Washington ing evidence as well as potential solutions and clinical genetics workforce, the addition Genetics and Genomics topics and have developed activities such as to overcome these obstacles. A summary and interpretation of external factors such The Roundtable established a working group the May 2010 workshop on the use of residual The Value of Genetic and Challenges and Opportunities Establishing Precompetitive of this workshop will be available from the as epigenetics and environmental influences to examine the translation of genomic knowl- newborn screening samples for translational Genomic Technologies: in Using Residual Newborn Collaborations to Stimulate Roundtable website. on the genome, and ethical issues such edge into drug treatment. Topics of discussion research. Members will continue to identify, Workshop Summary (2010) Screening Samples for Genomics Driven Product Translational Research: Development: Workshop as informed consent and stewardship over include advancing pharmacogenomics, the prioritize, and engage on issues as they arise. Workshop Summary (2010) Summary (2010) this information.
BOARD ON HEALTH SCIENCES POLICY About the Roundtable The Institute of Medicineâs Roundtable on Translating Genomic-Based Research for Health brings together leaders from academia, industry, government, foundations, associations, and representatives of patients and consumers who have a mutual interest in addressing the issues surrounding the translation of genomic-based research. The purpose of the Roundtable is to explore and implement strategies for improving health through the translation of genomic and Sponsors Roundtable Members Roundtable on Translating Genomic-Based Research for Health (as of December 2010) (as of December 2010) 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 American College of Medical Genetics Wylie Burke, M.D., Ph.D. (Chair) Sharon Terry, M.A. 2010 Annual Report understanding across these fields. Furthermore, these innovations have produced a diversity University of Washington Genetic Alliance of new issues to be addressed, including issues such as evidence of utility, economic implications, American Medical Association equal access, and public perspectives. As a convening mechanism for interested parties with Naomi Aronson, Ph.D. Martha Turner, Ph.D., R.N., B.C., C.N.A.A. American Nurses Association Blue Cross and Blue Shield Association American Nurses Association different perspectives to meet and discuss complex issues of mutual concern in a neutral setting, the Roundtable fosters dialogue across sectors and institutions and fosters collaboration Blue Cross and Blue Shield Association Bruce Blumberg, M.D. Michael S. Watson, Ph.D. among stakeholders. Centers for Disease Control and Prevention Kaiser Permanente American College of Medical Genetics The priorities and areas of emphasis for the Roundtable include: 1) issues related to the translation College of American Pathologists Denise E. Bonds, M.D., M.P.H. Daniel Wattendorf, M.D. (Lt. Col) of genomics into medicine and public health; 2) issues related to the evolving requirements for National Heart, Lung, and Blood Institute Department of the Air Force Department of the Air Force the health professional community, and the need to be able to understand and responsibly apply C. Thomas Caskey, M.D., FACP Catherine A. Wicklund, M.S., C.G.C. genomics to medicine and public health; and 3) ethical, legal, and social issues such as the potential Department of Veterans Affairs University of Texas Health Science Center at Houston National Society of Genetic Counselors for misuse of genetic information; the medical implications for family members; and the rights Eli Lilly and Company Stephen Eck, M.D., Ph.D. of an individual, family, or community to control the use and dissemination of genetic information. Eli Lilly and Company Genetic Alliance To achieve its objectives, the Roundtable conducts structured discussions, workshops, and sympo- Health Resources and Services Administration W. Gregory Feero, M.D., Ph.D. sia, and publishes workshop summaries. Specific issues and agenda topics are determined by the National Human Genome Research Institute Roundtable membership and span a broad range of issues relevant to the translation process. Johnson & Johnson Andrew N. Freedman, Ph.D. Kaiser Permanente National Cancer Institute Roundtable Staff Adam C. Berger, Ph.D. National Cancer Institute Geoffrey Ginsburg, M.D., Ph.D. Project Director National Heart, Lung, and Blood Institute Duke University Claire Giammaria, M.P.H. Sharon Kardia, Ph.D. National Human Genome Research Institute Research Associate University of Michigan School of Public Health Tonia Dickerson National Society of Genetic Counselors Mohamed Khan, M.D., Ph.D. Senior Program Assistant Pfizer Inc. American Medical Association Muin Khoury, M.D., Ph.D. Board on Health Sciences Policy Staff Centers for Disease Control and Prevention Andrew Pope, Ph.D. Director 2010 Roundtable Funding Debra Leonard, M.D., Ph.D. College of American Pathologists Contact Michele Lloyd-Puryear, M.D., Ph.D. For more information about the Roundtable on Translating Genomic-Based Health Resources and Services Administration Research for Health, please visit our website at www.iom.edu/genomicroundtable Elizabeth Mansfield, Ph.D. Federal Industry or call Adam Berger at (202)â334-3756. Food & Drug Administration Garry Neil, M.D. 35% Johnson & Johnson 45% Robert L. Nussbaum, M.D. University of California San Francisco School of Medicine Aidan Power, M.B., B.Ch., M.Sc., M.R.C.Psych. 20% Pfizer Inc. Ronald Przygodzki, M.D. Department of Veterans Affairs Allen D. Roses, Ph.D. Non-profit Duke University Kevin A. Schulman, M.D. Duke University 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 policymakers, health professionals, the private sector, and the public. The mission of the Institute of Medicine embraces the health of people everywhere.
BOARD ON HEALTH SCIENCES POLICY About the Roundtable The Institute of Medicineâs Roundtable on Translating Genomic-Based Research for Health brings together leaders from academia, industry, government, foundations, associations, and representatives of patients and consumers who have a mutual interest in addressing the issues surrounding the translation of genomic-based research. The purpose of the Roundtable is to explore and implement strategies for improving health through the translation of genomic and Sponsors Roundtable Members Roundtable on Translating Genomic-Based Research for Health (as of December 2010) (as of December 2010) 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 American College of Medical Genetics Wylie Burke, M.D., Ph.D. (Chair) Sharon Terry, M.A. 2010 Annual Report understanding across these fields. Furthermore, these innovations have produced a diversity University of Washington Genetic Alliance of new issues to be addressed, including issues such as evidence of utility, economic implications, American Medical Association equal access, and public perspectives. As a convening mechanism for interested parties with Naomi Aronson, Ph.D. Martha Turner, Ph.D., R.N., B.C., C.N.A.A. American Nurses Association Blue Cross and Blue Shield Association American Nurses Association different perspectives to meet and discuss complex issues of mutual concern in a neutral setting, the Roundtable fosters dialogue across sectors and institutions and fosters collaboration Blue Cross and Blue Shield Association Bruce Blumberg, M.D. Michael S. Watson, Ph.D. among stakeholders. Centers for Disease Control and Prevention Kaiser Permanente American College of Medical Genetics The priorities and areas of emphasis for the Roundtable include: 1) issues related to the translation College of American Pathologists Denise E. Bonds, M.D., M.P.H. Daniel Wattendorf, M.D. (Lt. Col) of genomics into medicine and public health; 2) issues related to the evolving requirements for National Heart, Lung, and Blood Institute Department of the Air Force Department of the Air Force the health professional community, and the need to be able to understand and responsibly apply C. Thomas Caskey, M.D., FACP Catherine A. Wicklund, M.S., C.G.C. genomics to medicine and public health; and 3) ethical, legal, and social issues such as the potential Department of Veterans Affairs University of Texas Health Science Center at Houston National Society of Genetic Counselors for misuse of genetic information; the medical implications for family members; and the rights Eli Lilly and Company Stephen Eck, M.D., Ph.D. of an individual, family, or community to control the use and dissemination of genetic information. Eli Lilly and Company Genetic Alliance To achieve its objectives, the Roundtable conducts structured discussions, workshops, and sympo- Health Resources and Services Administration W. Gregory Feero, M.D., Ph.D. sia, and publishes workshop summaries. Specific issues and agenda topics are determined by the National Human Genome Research Institute Roundtable membership and span a broad range of issues relevant to the translation process. Johnson & Johnson Andrew N. Freedman, Ph.D. Kaiser Permanente National Cancer Institute Roundtable Staff Adam C. Berger, Ph.D. National Cancer Institute Geoffrey Ginsburg, M.D., Ph.D. Project Director National Heart, Lung, and Blood Institute Duke University Claire Giammaria, M.P.H. Sharon Kardia, Ph.D. National Human Genome Research Institute Research Associate University of Michigan School of Public Health Tonia Dickerson National Society of Genetic Counselors Mohamed Khan, M.D., Ph.D. Senior Program Assistant Pfizer Inc. American Medical Association Muin Khoury, M.D., Ph.D. Board on Health Sciences Policy Staff Centers for Disease Control and Prevention Andrew Pope, Ph.D. Director 2010 Roundtable Funding Debra Leonard, M.D., Ph.D. College of American Pathologists Contact Michele Lloyd-Puryear, M.D., Ph.D. For more information about the Roundtable on Translating Genomic-Based Health Resources and Services Administration Research for Health, please visit our website at www.iom.edu/genomicroundtable Elizabeth Mansfield, Ph.D. Federal Industry or call Adam Berger at (202)â334-3756. Food & Drug Administration Garry Neil, M.D. 35% Johnson & Johnson 45% Robert L. Nussbaum, M.D. University of California San Francisco School of Medicine Aidan Power, M.B., B.Ch., M.Sc., M.R.C.Psych. 20% Pfizer Inc. Ronald Przygodzki, M.D. Department of Veterans Affairs Allen D. Roses, Ph.D. Non-profit Duke University Kevin A. Schulman, M.D. Duke University 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 policymakers, health professionals, the private sector, and the public. The mission of the Institute of Medicine embraces the health of people everywhere.
BOARD ON HEALTH SCIENCES POLICY About the Roundtable The Institute of Medicineâs Roundtable on Translating Genomic-Based Research for Health brings together leaders from academia, industry, government, foundations, associations, and representatives of patients and consumers who have a mutual interest in addressing the issues surrounding the translation of genomic-based research. The purpose of the Roundtable is to explore and implement strategies for improving health through the translation of genomic and Sponsors Roundtable Members Roundtable on Translating Genomic-Based Research for Health (as of December 2010) (as of December 2010) 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 American College of Medical Genetics Wylie Burke, M.D., Ph.D. (Chair) Sharon Terry, M.A. 2010 Annual Report understanding across these fields. Furthermore, these innovations have produced a diversity University of Washington Genetic Alliance of new issues to be addressed, including issues such as evidence of utility, economic implications, American Medical Association equal access, and public perspectives. As a convening mechanism for interested parties with Naomi Aronson, Ph.D. Martha Turner, Ph.D., R.N., B.C., C.N.A.A. American Nurses Association Blue Cross and Blue Shield Association American Nurses Association different perspectives to meet and discuss complex issues of mutual concern in a neutral setting, the Roundtable fosters dialogue across sectors and institutions and fosters collaboration Blue Cross and Blue Shield Association Bruce Blumberg, M.D. Michael S. Watson, Ph.D. among stakeholders. Centers for Disease Control and Prevention Kaiser Permanente American College of Medical Genetics The priorities and areas of emphasis for the Roundtable include: 1) issues related to the translation College of American Pathologists Denise E. Bonds, M.D., M.P.H. Daniel Wattendorf, M.D. (Lt. Col) of genomics into medicine and public health; 2) issues related to the evolving requirements for National Heart, Lung, and Blood Institute Department of the Air Force Department of the Air Force the health professional community, and the need to be able to understand and responsibly apply C. Thomas Caskey, M.D., FACP Catherine A. Wicklund, M.S., C.G.C. genomics to medicine and public health; and 3) ethical, legal, and social issues such as the potential Department of Veterans Affairs University of Texas Health Science Center at Houston National Society of Genetic Counselors for misuse of genetic information; the medical implications for family members; and the rights Eli Lilly and Company Stephen Eck, M.D., Ph.D. of an individual, family, or community to control the use and dissemination of genetic information. Eli Lilly and Company Genetic Alliance To achieve its objectives, the Roundtable conducts structured discussions, workshops, and sympo- Health Resources and Services Administration W. Gregory Feero, M.D., Ph.D. sia, and publishes workshop summaries. Specific issues and agenda topics are determined by the National Human Genome Research Institute Roundtable membership and span a broad range of issues relevant to the translation process. Johnson & Johnson Andrew N. Freedman, Ph.D. Kaiser Permanente National Cancer Institute Roundtable Staff Adam C. Berger, Ph.D. National Cancer Institute Geoffrey Ginsburg, M.D., Ph.D. Project Director National Heart, Lung, and Blood Institute Duke University Claire Giammaria, M.P.H. Sharon Kardia, Ph.D. National Human Genome Research Institute Research Associate University of Michigan School of Public Health Tonia Dickerson National Society of Genetic Counselors Mohamed Khan, M.D., Ph.D. Senior Program Assistant Pfizer Inc. American Medical Association Muin Khoury, M.D., Ph.D. Board on Health Sciences Policy Staff Centers for Disease Control and Prevention Andrew Pope, Ph.D. Director 2010 Roundtable Funding Debra Leonard, M.D., Ph.D. College of American Pathologists Contact Michele Lloyd-Puryear, M.D., Ph.D. For more information about the Roundtable on Translating Genomic-Based Health Resources and Services Administration Research for Health, please visit our website at www.iom.edu/genomicroundtable Elizabeth Mansfield, Ph.D. Federal Industry or call Adam Berger at (202)â334-3756. Food & Drug Administration Garry Neil, M.D. 35% Johnson & Johnson 45% Robert L. Nussbaum, M.D. University of California San Francisco School of Medicine Aidan Power, M.B., B.Ch., M.Sc., M.R.C.Psych. 20% Pfizer Inc. Ronald Przygodzki, M.D. Department of Veterans Affairs Allen D. Roses, Ph.D. Non-profit Duke University Kevin A. Schulman, M.D. Duke University 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 policymakers, health professionals, the private sector, and the public. The mission of the Institute of Medicine embraces the health of people everywhere.
