ArticleJournal of the American Medical Informatics Association : JAMIA2023
Creation of a structured molecular genomics report for Germany as a local adaption of HL7's Genomic Reporting Implementation Guide.
Article in Journal of the American Medical Informatics Association : JAMIA, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- From free text to structured genomics: future-proofing cancer registries for precision oncology.ESMO real world data and digital oncology · 2026Review
- Assessment of the adequacy of the Fast Healthcare Interoperability Resources (FHIR) Genomics standard for the representation of somatic testing reports.JAMIA open · 2026Article
- Genomics on FHIR - a feasibility study to support a National Strategy for Genomic Medicine.NPJ genomic medicine · 2025Article
- Exchange of Quantitative Computed Tomography Assessed Body Composition Data Using Fast Healthcare Interoperability Resources as a Necessary Step Toward Interoperable Integration of Opportunistic Screening Into Clinical Practice: Methodological Development Study.Journal of medical Internet research · 2025Article
- An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets.Scientific data · 2025Article
- Empowering personalized oncology: evolution of digital support and visualization tools for molecular tumor boards.BMC medical informatics and decision making · 2025Article
- [Interoperability Working Group: core dataset and information systems for data integration and data exchange in the Medical Informatics Initiative].Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz · 2024Article
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Authors and funding
17 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThe objective was to develop a dataset definition, information model, and FHIR® specification for key data elements contained in a German molecular genomics (MolGen) report to facilitate genomic and phenotype integration in electronic health records. MATERIALS AND
methodsA dedicated expert group participating in the German Medical Informatics Initiative reviewed information contained in MolGen reports, determined the key elements, and formulated a dataset definition. HL7's Genomics Reporting Implementation Guide (IG) was adopted as a basis for the FHIR® specification which was subjected to a public ballot. In addition, elements in the MolGen dataset were mapped to the fields defined in ISO/TS 20428:2017 standard to evaluate compliance.
resultsA core dataset of 76 data elements, clustered into 6 categories was created to represent all key information of German MolGen reports. Based on this, a FHIR specification with 16 profiles, 14 derived from HL7®'s Genomics Reporting IG and 2 additional profiles (of the FamilyMemberHistory and RiskAssessment resources), was developed. Five example resource bundles show how our adaptation of an international standard can be used to model MolGen report data that was requested following oncological or rare disease indications. Furthermore, the map of the MolGen report data elements to the fields defined by the ISO/TC 20428:2017 standard, confirmed the presence of the majority of required fields.
conclusionsOur report serves as a template for other research initiatives attempting to create a standard format for unstructured genomic report data. Use of standard formats facilitates integration of genomic data into electronic health records for clinical decision support.
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