ArticleJournal of medical Internet research2020
Clinical Genomic Sequencing Reports in Electronic Health Record Systems Based on International Standards: Implementation Study.
Article in Journal of medical Internet research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Near-real-time whole-genome sequencing in hospital infection control: a narrative review.Infection · 2026Review
- Recommendations for bioinformatics in clinical practice.Genome medicine · 2025Review
- Semantic enrichment of Pomeranian health study data using LOINC and WHO-FIC terminology mapping principles.JAMIA open · 2025Article
- Artificial intelligence in autoimmune diseases: a bibliometric exploration of the past two decades.Frontiers in immunology · 2025Review
- 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
- HL7 FHIR-based tools and initiatives to support clinical research: a scoping review.Journal of the American Medical Informatics Association : JAMIA · 2022Article
- Genomic considerations for FHIR®; eMERGE implementation lessons.Journal of biomedical informatics · 2021Article
- Fast Healthcare Interoperability Resources (FHIR)-Based Quality Information Exchange for Clinical Next-Generation Sequencing Genomic Testing: Implementation Study.Journal of medical Internet research · 2021Article
- The 21st Century Cures Act: A Competitive Apps Market and the Risk of Innovation Blocking.Journal of medical Internet research · 2020Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTo implement standardized machine-processable clinical sequencing reports in an electronic health record (EHR) system, the International Organization for Standardization Technical Specification (ISO/TS) 20428 international standard was proposed for a structured template. However, there are no standard implementation guidelines for data items from the proposed standard at the clinical site and no guidelines or references for implementing gene sequencing data results for clinical use. This is a significant challenge for implementation and application of these standards at individual sites.
objectiveThis study examines the field utilization of genetic test reports by designing the Health Level 7 (HL7) Fast Healthcare Interoperability Resources (FHIR) for genomic data elements based on the ISO/TS 20428 standard published as the standard for genomic test reports. The goal of this pilot is to facilitate the reporting and viewing of genomic data for clinical applications. FHIR Genomics resources predominantly focus on transmitting or representing sequencing data, which is of less clinical value.
methodsIn this study, we describe the practical implementation of ISO/TS 20428 using HL7 FHIR Genomics implementation guidance to efficiently deliver the required genomic sequencing results to clinicians through an EHR system.
resultsWe successfully administered a structured genomic sequencing report in a tertiary hospital in Korea based on international standards. In total, 90 FHIR resources were used. Among 41 resources for the required fields, 26 were reused and 15 were extended. For the optional fields, 28 were reused and 21 were extended.
conclusionsTo share and apply genomic sequencing data in both clinical practice and translational research, it is essential to identify the applicability of the standard-based information system in a practical setting. This prototyping work shows that reporting data from clinical genomics sequencing can be effectively implemented into an EHR system using the existing ISO/TS 20428 standard and FHIR resources.
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Registered trials
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