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

Stellmach, Caroline; Sass, Julian; Auber, Bernd; Boeker, Martin; Wienker, Thomas F.; Heidel, Andrew J.; Benary, Manuela; Schumacher, Simon; Ossowski, Stephan; Klauschen, Frederick; Möller , Yvonne; Schmutzler, Rita; Ustjanzew, Arsenij; Werner, Patrick; Tomczak, Aurelie; Hölter, Thimo; Thun, Sylvia

doi:10.1093/jamia/ocad061

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

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Wienker, Thomas F.
Clinical Genetics (Thomas F. Wienker), Emeritus Group of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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JAMIA_Stellmach et al_2023.pdf
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引用

Stellmach, C., Sass, J., Auber, B., Boeker, M., Wienker, T. F., Heidel, A. J., Benary, M., Schumacher, S., Ossowski, S., Klauschen, F., Möller, Y., Schmutzler, R., Ustjanzew, A., Werner, P., Tomczak, A., Hölter, T., & Thun, S. (2023). 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,. doi:10.1093/jamia/ocad061.

引用: https://hdl.handle.net/21.11116/0000-000D-2B7E-7

要旨

Objective

The 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 Methods

A 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.

Results

A 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.

Conclusions

Our 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.