ArticleJournal of biomedical informatics2021
Genomic considerations for FHIR®; eMERGE implementation lessons.
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Article in Journal of biomedical informatics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18citing papers in PubMed
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Who cites it
18 citing papers in PubMed.
- AI-based multimodal integration of genomics and electronic health records.Nature reviews. Genetics · 2026Review
- Clinical decisions in clonal hematopoiesis: a contemporary review for clinicians.Haematologica · 2026Review
- Assessment of the adequacy of the Fast Healthcare Interoperability Resources (FHIR) Genomics standard for the representation of somatic testing reports.JAMIA open · 2026Article
- Advancing the science of genomic learning healthcare systems.Learning health systems · 2025Article
- Genomics on FHIR - a feasibility study to support a National Strategy for Genomic Medicine.NPJ genomic medicine · 2025Article
- Identifying and Optimizing Factors Influencing the Implementation of a Fast Healthcare Interoperability Resources Accelerator: Qualitative Study Using the Consolidated Framework for Implementation Research-Expert Recommendations for Implementing Change Approach.JMIR medical informatics · 2025Article
- Paving the path for implementation of clinical genomic sequencing globally: Are we ready?Health affairs scholar · 2024Article
- Enabling the clinical application of artificial intelligence in genomics: a perspective of the AMIA Genomics and Translational Bioinformatics Workgroup.Journal of the American Medical Informatics Association : JAMIA · 2024Article
- Designing Interoperable Health Care Services Based on Fast Healthcare Interoperability Resources: Literature Review.JMIR medical informatics · 2023Review
- Creation of a structured molecular genomics report for Germany as a local adaption of HL7's Genomic Reporting Implementation Guide.Journal of the American Medical Informatics Association : JAMIA · 2023Article
- Smart Contract Authentication assisted GraphMap-Based HL7 FHIR architecture for interoperable e-healthcare system.Heliyon · 2023Article
- Development and application of a computable genotype model in the GA4GH Variation Representation Specification.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2023Article
- A cloud-based pipeline for analysis of FHIR and long-read data.Bioinformatics advances · 2023Article
- HL7 FHIR-based tools and initiatives to support clinical research: a scoping review.Journal of the American Medical Informatics Association : JAMIA · 2022Article
- A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources.Journal of the American Medical Informatics Association : JAMIA · 2022Article
- Pharmacogenomic Clinical Decision Support: A Review, How-to Guide, and Future Vision.Clinical pharmacology and therapeutics · 2022Review
- Best practices in the real-world data life cycle.PLOS digital health · 2022Review
- Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
Corrections and comments
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Authors and funding
26 authors.
Mullai MuruganHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. Electronic address: murugan@bcm.edu.
Lawrence J BabbMedical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Casey Overby TaylorDepartments of Medicine and Biomedical Engineering, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Luke V RasmussenDepartment of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Robert R FreimuthDepartment of Digital Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
Eric VennerHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Fei YanHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Victoria YiHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Stephen J GraniteDepartments of Medicine and Biomedical Engineering, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Hana ZoukLaboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA; Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Samuel J AronsonPartners Personalized Medicine, Partners HealthCare, Cambridge, MA, USA.
Kevin PowerCerner Corporation, Kansas City, MO, USA.
Alex FedotovIrving Institute for Clinical and Translational Research, Columbia University, New York, NY, USA.
David R CrosslinDepartment of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA, USA.
David FaselDepartment of Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Gail P JarvikDepartment of Medicine (Medical Genetics) and Genome Sciences, University of Washington, Seattle, WA, USA.
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia, PA, USA.
Hana BangashDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN.
Iftikhar J KulloDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN.
John J ConnollyCenter for Applied Genomics, Children's Hospital of Philadelphia, PA, USA.
Jordan G NestorDepartment of Medicine, Division of Nephrology, Columbia University, New York, NY, USA.
Pedro J CaraballoDepartment of Medicine and Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
WeiQi WeiDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
Ken WileyNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Heidi L RehmMedical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Richard A GibbsHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Funding
Technologies and Resources CoreU54MD007593 · NIMHD · MEHARRY MEDICAL COLLEGE · PI ADUNYAH, SAMUEL EVANS · 2012 to 2018
$24.7MGenomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5MFinding Genomic Profiles of COVID-19 Phenotypes from the EHRU01HG008685 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI ELIZABETH W KARLSON, Matthew S Lebo · 2015 to 2026
$13.6MVariation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4MOMOP information model for eMERGE phenotypingU01HG008680 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Wendy K Chung, GEORGE M HRIPCSAK · 2015 to 2026
$13.3MDNA Sequencing Support for the eMERGE NetworkU01HG008664 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2015 to 2019
$10.9MGlobal Alliance for Genomic Health (GA4GH)U01HG008676 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI LENNON, NIALL JOHN, REHM, HEIDI L · 2015 to 2019
$8.6MThe Electronic Medical Records and Genomics (eMERGE) Network Phase III Coordinating Center (U01)U01HG008701 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI PETERSON, JOSEPH F. · 2015 to 2019
$7.1MVGER, the Vanderbilt Genome-Electronic Records ProjectU01HG008672 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI DENNY, JOSHUA C., RODEN, DAN M · 2015 to 2019
$5.1MThe Future of Genomics Medicine in Patient Care: Contributions from CHOPU01HG008684 · NHGRI · CHILDREN'S HOSP OF PHILADELPHIA · PI HAKONARSON, HAKON · 2015 to 2019
$5.0MOMOP information model for eMERGE phenotypingU01HG008679 · NHGRI · GEISINGER CLINIC · PI WILLIAMS, MARC S. · 2015 to 2019
$4.4MGeisinger eGenonic Medicine (GeM) ProgramU01HG006382 · NHGRI · GEISINGER CLINIC · PI CAREY, DAVID J., WILLIAMS, MARC S. · 2011 to 2014
$4.3MNHGRI NIH HHS U01 HG006379NHGRI NIH HHS U01 HG006382NHGRI NIH HHS U01 HG008657NHGRI NIH HHS U01 HG008664NHGRI NIH HHS U01 HG008666NHGRI NIH HHS U01 HG008672NHGRI NIH HHS U01 HG008673NHGRI NIH HHS U01 HG008676NHGRI NIH HHS U01 HG008679NHGRI NIH HHS U01 HG008680NHGRI NIH HHS U01 HG008684NHGRI NIH HHS U01 HG008685NHGRI NIH HHS U01 HG008701NIDDK NIH HHS L30 DK122442NIDDK NIH HHS T32 DK108741NIMHD NIH HHS U54 MD007593
Abstract
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.
Indexed as
Electronic Health RecordsMedical InformaticsGenomicsHealth Level SevenHumansPrecision MedicineClinical decision supportClinical genomicsElectronic health record (EHR)Genetic test resultsHL7® FHIR® standardInteroperability
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.