ArticleNPJ genomic medicine2025
Genomics on FHIR - a feasibility study to support a National Strategy for Genomic Medicine.
Article in NPJ genomic medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
7 authors.
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Abstract
The German National Strategy for Genomic Medicine (genomDE) aims to integrate genome sequencing into standard healthcare. However, integrating genomics data from research and healthcare remains challenging. This study analyzed how the genomDE dataset could be mapped to international standards: the Genomics Reporting Fast Healthcare Interoperability Resources® (FHIR®) Implementation Guide (IG) 2.0.0, the Global Alliance for Genomics and Health (GA4GH)'s Phenopacket Schema, and the German national molecular genomics report IG of the Medical Informatics Initiative (MII). Sample FHIR® bundles and necessary search queries were created and validated. Most dataset elements could be represented using existing FHIR profiles, while unmapped elements were addressed through profiling and extensions. The study highlights that the genomDE dataset can largely be mapped to existing international standards, with the potential to extend these standards to accommodate missing elements, thereby improving genomic data interoperability in healthcare.
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Registered trials
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