Genomic considerations for FHIR®; eMERGE implementation lessons.

Autor: Murugan M; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. Electronic address: murugan@bcm.edu., Babb LJ; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Overby Taylor C; Departments of Medicine and Biomedical Engineering, The Johns Hopkins University School of Medicine, Baltimore, MD, USA., Rasmussen LV; Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Freimuth RR; Department of Digital Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Venner E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Yan F; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Yi V; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Granite SJ; Departments of Medicine and Biomedical Engineering, The Johns Hopkins University School of Medicine, Baltimore, MD, USA., Zouk H; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA; Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Aronson SJ; Partners Personalized Medicine, Partners HealthCare, Cambridge, MA, USA., Power K; Cerner Corporation, Kansas City, MO, USA., Fedotov A; Irving Institute for Clinical and Translational Research, Columbia University, New York, NY, USA., Crosslin DR; Department of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA, USA., Fasel D; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA., Jarvik GP; Department of Medicine (Medical Genetics) and Genome Sciences, University of Washington, Seattle, WA, USA., Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, PA, USA., Bangash H; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN., Kullo IJ; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN., Connolly JJ; Center for Applied Genomics, Children's Hospital of Philadelphia, PA, USA., Nestor JG; Department of Medicine, Division of Nephrology, Columbia University, New York, NY, USA., Caraballo PJ; Department of Medicine and Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA., Wei W; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA., Wiley K; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Rehm HL; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Jazyk: angličtina
Zdroj: Journal of biomedical informatics [J Biomed Inform] 2021 Jun; Vol. 118, pp. 103795. Date of Electronic Publication: 2021 Apr 28.
DOI: 10.1016/j.jbi.2021.103795
Abstrakt: Structured representation of clinical genetic results is necessary for advancing precision medicine. The Electronic Medical Records and Genomics (eMERGE) Network's Phase III program initially used a commercially developed XML message format for standardized and structured representation of genetic results for electronic health record (EHR) integration. In a desire to move towards a standard representation, the network created a new standardized format based upon Health Level Seven Fast Healthcare Interoperability Resources (HL7® FHIR®), to represent clinical genomics results. These new standards improve the utility of HL7® FHIR® as an international healthcare interoperability standard for management of genetic data from patients. This work advances the establishment of standards that are being designed for broad adoption in the current health information technology landscape.
(Copyright © 2021 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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