Ken Wiley1, Laura Findley1, Madison Goldrich1, Tejinder K Rakhra-Burris2, Ana Stevens1, Pamela Williams2, Carol J Bult3, Rex Chisholm4, Patricia Deverka5, Geoffrey S Ginsburg6, Eric D Green1, Gail Jarvik7, George A Mensah8, Erin Ramos1, Mary V Relling9, Dan M Roden10, Robb Rowley1, Gil Alterovitz11, Samuel Aronson12, Lisa Bastarache13, James J Cimino14, Erin L Crowgey15, Guilherme Del Fiol16, Robert R Freimuth17, Mark A Hoffman18, Janina Jeff19, Kevin Johnson13, Kensaku Kawamoto16, Subha Madhavan20, Eneida A Mendonca21,22, Lucila Ohno-Machado23, Siddharth Pratap24, Casey Overby Taylor25, Marylyn D Ritchie26, Nephi Walton27, Chunhua Weng28, Teresa Zayas-Cabán29, Teri A Manolio1, Marc S Williams30. 1. National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA. 2. Department of Medicine, Center for Applied Genomics & Precision Medicine, Duke University, Durham, North Carolina, USA. 3. The Jackson Laboratory, Bar Harbor, Maine, USA. 4. Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA. 5. Center for Translational and Policy Research in Precision Medicine, University of California at San Francisco, San Francisco, California, USA. 6. All of Us Research Program, National Institutes of Health, Bethesda, Maryland, USA. 7. Division of Medical Genetics, University of Washington, Seattle, Washington, USA. 8. National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA. 9. Pharmacy and Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA. 10. Departments of Medicine, Pharmacology, and Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA. 11. Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA. 12. Mass General Brigham, Research Information Sciences and Computing, Somerville, Massachusetts, USA. 13. Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA. 14. Heersink School of Medicine, University of Alabama at Birmingham, Alabama, USA. 15. Nemours Children's Health, Wilmington, Delaware, USA. 16. Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah, USA. 17. Department of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, Minnesota, USA. 18. School of Medicine, Children's Mercy Hospital Kansas City, University of Missouri Kansas City, Lees Summit, Missouri, USA. 19. Illumina, San Diego, California, USA. 20. Innovation Center for Biomedical Informatics, Georgetown University, Washington, District of Columbia, USA. 21. Regenstrief Institute, Inc., Indianapolis, Indiana, USA. 22. Department of Pediatrics, Department of Biostatistics and Health Data Sciences, Indiana University School of Medicine, Indianapolis, Indiana, USA. 23. Department of Biomedical Informatics, University of California San Diego, La Jolla, California, USA. 24. Bioinformatics Core, Meharry Medical College, Nashville, Tennessee, USA. 25. Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA. 26. Department of Genetics, Perelman School of Medicine, Institute for Biomedical Informatics, Penn Center for Precision Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA. 27. Intermountain Precision Genomics, Intermountain Healthcare, St George, Utah, USA. 28. Department of Biomedical Informatics, Columbia University, New York, New York, USA. 29. National Library of Medicine, National Institutes of Health, Bethesda, Maryland, USA. 30. Geisinger, Genomic Medicine Institute, Danville, Pennsylvania, USA.
Abstract
OBJECTIVE: The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research virtually hosted its 13th genomic medicine meeting titled "Developing a Clinical Genomic Informatics Research Agenda". The meeting's goal was to articulate a research strategy to develop Genomics-based Clinical Informatics Tools and Resources (GCIT) to improve the detection, treatment, and reporting of genetic disorders in clinical settings. MATERIALS AND METHODS: Experts from government agencies, the private sector, and academia in genomic medicine and clinical informatics were invited to address the meeting's goals. Invitees were also asked to complete a survey to assess important considerations needed to develop a genomic-based clinical informatics research strategy. RESULTS: Outcomes from the meeting included identifying short-term research needs, such as designing and implementing standards-based interfaces between laboratory information systems and electronic health records, as well as long-term projects, such as identifying and addressing barriers related to the establishment and implementation of genomic data exchange systems that, in turn, the research community could help address. DISCUSSION: Discussions centered on identifying gaps and barriers that impede the use of GCIT in genomic medicine. Emergent themes from the meeting included developing an implementation science framework, defining a value proposition for all stakeholders, fostering engagement with patients and partners to develop applications under patient control, promoting the use of relevant clinical workflows in research, and lowering related barriers to regulatory processes. Another key theme was recognizing pervasive biases in data and information systems, algorithms, access, value, and knowledge repositories and identifying ways to resolve them. Published by Oxford University Press on behalf of the American Medical Informatics Association 2022. This work is written by US Government employees and is in the public domain in the US.
OBJECTIVE: The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research virtually hosted its 13th genomic medicine meeting titled "Developing a Clinical Genomic Informatics Research Agenda". The meeting's goal was to articulate a research strategy to develop Genomics-based Clinical Informatics Tools and Resources (GCIT) to improve the detection, treatment, and reporting of genetic disorders in clinical settings. MATERIALS AND METHODS: Experts from government agencies, the private sector, and academia in genomic medicine and clinical informatics were invited to address the meeting's goals. Invitees were also asked to complete a survey to assess important considerations needed to develop a genomic-based clinical informatics research strategy. RESULTS: Outcomes from the meeting included identifying short-term research needs, such as designing and implementing standards-based interfaces between laboratory information systems and electronic health records, as well as long-term projects, such as identifying and addressing barriers related to the establishment and implementation of genomic data exchange systems that, in turn, the research community could help address. DISCUSSION: Discussions centered on identifying gaps and barriers that impede the use of GCIT in genomic medicine. Emergent themes from the meeting included developing an implementation science framework, defining a value proposition for all stakeholders, fostering engagement with patients and partners to develop applications under patient control, promoting the use of relevant clinical workflows in research, and lowering related barriers to regulatory processes. Another key theme was recognizing pervasive biases in data and information systems, algorithms, access, value, and knowledge repositories and identifying ways to resolve them. Published by Oxford University Press on behalf of the American Medical Informatics Association 2022. This work is written by US Government employees and is in the public domain in the US.
Entities:
Keywords:
clinical decision support systems; clinical informatics; genomics
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