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Creation of a structured molecular genomics report for Germany as a local adaption of HL7’s Genomic Reporting Implementation Guide

Beitrag vom 24. April 2023

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This study aimed at creating a dataset definition and information model that comprises the key informational elements present in a German MolGen report—defined based on the review of example reports from several German university hospitals by a group of experts within the German Medical Informatics Initiative (MII).

Locally adapting the international standard, the Genomics Reporting IG, a FHIR® specification was to be created to provide the dataset definition with a structured exchange format. To show stakeholders how the FHIR profiles could be used to model data contained in German MolGen reports in FHIR®, we aimed to create numerous examples as part of the IG. Additional requirements that needed to be integrated to provide greater usability were sought by subjecting the FHIR specification to a public ballot. We also wanted to evaluate the conformance of the dataset with the ISO/TS 20428:2017 standard through a map.

Overview of the steps undertaken in the process of developing a FHIR-based molecular genomics report format Overview of the steps undertaken in the process of developing a FHIR-based molecular genomics report format

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