Roundtable on Translating Genomic-Based Research for Health 2014 Annual Report (2015) / Chapter Skim
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Roundtable on Translating Genomic-Based Research for Health: 2014 Annual Report
Roundtable on Translating Genomic-Based Research for Health: 2014 Annual Report
Pages 1-12
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BOARD ON HEALTH SCIENCES POLICY Roundtable on Translating Genomic-Based Research for Health 2014 Annual Report
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Pathogen sequencing for diagnosis of infectious disease was recently used in "real time" to track and control an outbreak in a neonatal intensive care unit. However, translation of genome-based research into health care applications remains challenging due to a currently underdeveloped evidence base, a misalignment between basic research and clinical needs, and the lack of a robust knowledge generating system that incorporates genomic information from both basic and clinical research.
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We will continue to identify key issues in the evidence evaluation process for genomic technologies, approaches to educating health care providers about genomics, integrating genomic information into electronic health records, and addressing the challenges of genomic medicine with the global community of stakeholders. The Roundtable recently welcomed new sponsoring members from Eisai, Inc.
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Over the past 10 years, these advances have been buoyed by the equally significant advances in technologies that have increased accuracy and lowered genome sequencing costs from $2.7 billion in 2003 to $1,000 today. As a result of these scientific and technological advances, large-scale genome sequencing is beginning to move into clinical practice for determining patient treatment options.
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The Roundtable hosted a workshop to examine pragmatic approaches to improving genetics education in both graduate and continuing education of health professionals. The workshop examined a variety of approaches that could improve the teaching of genetics; these approaches included online and interactive instruction, just-in-time approaches, the development of clinical decision support tools, and the incorporation of genetics requirements into licensing and accreditation.
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convened key stakeholders from health information technology and management vendors, academic health centers, government agencies, and other organizations to enable the uniform representation and integration of genetic and genomic information into EHRs in a standards-based, interoperable format. The EHR AC identified the minimum data elements needed to be represented for both germline and somatic genetic determinants and completed a data mapping process to facilitate the development of clinical decision support based on genetic and genomic information.
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Action Collaboratives The Action Collaborative on Representing Genomic Information in the Electronic Health Record Ecosystem will meet in 2015 to define and further refine use cases for the integration and representation of genetic and genomic information in the EHR. Discussions will also focus on defining the necessary data standards and identifying the relevant bodies for their creation, identifying further participants for pilot implementation projects, delineating success criteria for pilots, and ensuring that other organizations and activities working to integrate genetic and genomic information into health information technology are actively engaged.
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Education, Engagement, and Cultural Change Implementation of new genomic technologies requires the education and engagement of health professionals and institutional administrators. This working group is examining pragmatic approaches to improving the genetics education of health professionals and institutional decision makers and the cultural barriers and changes needed to facilitate this education.
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This group is work- Tests: Workshop Summary ing with health information and management systems vendors, clinical end users, health information technology professionals, academic researchers, government agencies, patient groups, and others to explore how genomic and genetic information can be effectively and efficiently integrated with other data (includ- Assessing Genomic ing both health-system and patient-generated) Sequencing to improve overall patient care and outcomes Information for Health through a rapid learning process.
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National Cancer Institute Health Resources and Services Jennifer L Hall, Ph.D., FAHA, FACC Administration International Society for Sam Shekar, M.D., M.P.H.
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Roundtable Sponsors Roundtable Members and Sponsorship American Academy of Nursing American College of Medical Genetics and Genomics American Heart Association American Medical Association American Society of Human Genetics Association for Molecular Pathology Blue Cross and Blue Shield Association College of American Pathologists Eli Lilly and Company Genetic Alliance Health Resources and Services Administration International Society for Cardiovascular Translational Research The Kaiser Permanente Program Offices Community Benefit II at the East Bay Community Foundation Life Technologies Merck Research Laboratories National Cancer Institute National Human Genome Research Institute National Institute of Mental Health National Institute of Nursing Research National Institute on Aging Patient Advocacy National Society of Genetic Counselors 4% Northrop Grumman Pfizer Inc. Foundations and 28% Government Associations 40% PhRMA U.S.
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Established in 1970 under the charter of the National Academy of Sciences, the Institute of Medicine provides independent, objective, evidence-based advice to policy makers, health professionals, the private sector, and the public. The mission of the Institute of Medicine embraces the health of people everywhere.
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