A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources.

Autor:	Wiley K; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Findley L; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Goldrich M; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Rakhra-Burris TK; Department of Medicine, Center for Applied Genomics & Precision Medicine, Duke University, Durham, North Carolina, USA., Stevens A; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Williams P; Department of Medicine, Center for Applied Genomics & Precision Medicine, Duke University, Durham, North Carolina, USA., Bult CJ; The Jackson Laboratory, Bar Harbor, Maine, USA., Chisholm R; Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Deverka P; Center for Translational and Policy Research in Precision Medicine, University of California at San Francisco, San Francisco, California, USA., Ginsburg GS; All of Us Research Program, National Institutes of Health, Bethesda, Maryland, USA., Green ED; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Jarvik G; Division of Medical Genetics, University of Washington, Seattle, Washington, USA., Mensah GA; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA., Ramos E; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Relling MV; Pharmacy and Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Roden DM; Departments of Medicine, Pharmacology, and Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Rowley R; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Alterovitz G; Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA., Aronson S; Mass General Brigham, Research Information Sciences and Computing, Somerville, Massachusetts, USA., Bastarache L; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Cimino JJ; Heersink School of Medicine, University of Alabama at Birmingham, Alabama, USA., Crowgey EL; Nemours Children's Health, Wilmington, Delaware, USA., Del Fiol G; Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah, USA., Freimuth RR; Department of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, Minnesota, USA., Hoffman MA; School of Medicine, Children's Mercy Hospital Kansas City, University of Missouri Kansas City, Lees Summit, Missouri, USA., Jeff J; Illumina, San Diego, California, USA., Johnson K; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Kawamoto K; Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah, USA., Madhavan S; Innovation Center for Biomedical Informatics, Georgetown University, Washington, District of Columbia, USA., Mendonca EA; Regenstrief Institute, Inc., Indianapolis, Indiana, USA.; Department of Pediatrics, Department of Biostatistics and Health Data Sciences, Indiana University School of Medicine, Indianapolis, Indiana, USA., Ohno-Machado L; Department of Biomedical Informatics, University of California San Diego, La Jolla, California, USA., Pratap S; Bioinformatics Core, Meharry Medical College, Nashville, Tennessee, USA., Taylor CO; Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA., Ritchie MD; Department of Genetics, Perelman School of Medicine, Institute for Biomedical Informatics, Penn Center for Precision Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Walton N; Intermountain Precision Genomics, Intermountain Healthcare, St George, Utah, USA., Weng C; Department of Biomedical Informatics, Columbia University, New York, New York, USA., Zayas-Cabán T; National Library of Medicine, National Institutes of Health, Bethesda, Maryland, USA., Manolio TA; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Williams MS; Geisinger, Genomic Medicine Institute, Danville, Pennsylvania, USA.
Jazyk:	angličtina
Zdroj:	Journal of the American Medical Informatics Association : JAMIA [J Am Med Inform Assoc] 2022 Jul 12; Vol. 29 (8), pp. 1342-1349.
DOI:	10.1093/jamia/ocac057
Abstrakt:	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.)
Databáze:	MEDLINE
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