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

Autor:	Stellmach C; Core Facility Digital Medicine and Interoperability, Berlin Institute of Health (BIH) at Charité - Universitätsmedizin Berlin, Berlin, Germany., Sass J; Core Facility Digital Medicine and Interoperability, Berlin Institute of Health (BIH) at Charité - Universitätsmedizin Berlin, Berlin, Germany., Auber B; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Boeker M; Fakultät für Medizin, Technische Universität München, Munich, Germany., Wienker T; Emeritus Ropers, Max Planck Institute for Molecular Genetics, Berlin, Germany., Heidel AJ; IT Department, Universitätsklinikum Jena, Jena, Germany., Benary M; Core Unit Bioinformatics, Berlin Institute of Health (BIH) at Charité - Universitätsmedizin Berlin, Berlin, Germany., Schumacher S; Medical Data Integration Center (MeDIC), Universitätsklinikum Köln, Cologne, Germany., Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Klauschen F; Institut für Pathologie, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Pathologisches Institut, Ludwig-Maximilians-Universität München, Munich, Germany.; Berlin Institute for the Foundations of Learning and Data (BIFOLD), Berlin, Germany., Möller Y; Center for personalized medicine (ZPM), Universitätsklinikum Tübingen, Tübingen, Germany., Schmutzler R; Center Familial Breast and Ovarian Cancer, National Center of Familial Tumor Diseases and Center of Integrated Oncology, Universitätsklinikum Köln, Cologne, Germany., Ustjanzew A; Institut für Medizinische, Biometrie, Epidemiologie und Informatik Mainz, Universitätsmedizin der Johannes Gutenberg-Universität Mainz, Mainz, Germany., Werner P; MOLIT Institut gGmbH, Heilbronn, Germany., Tomczak A; Liver Cancer Centre Heidelberg, Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany., Hölter T; Core Facility Digital Medicine and Interoperability, Berlin Institute of Health (BIH) at Charité - Universitätsmedizin Berlin, Berlin, Germany., Thun S; Core Facility Digital Medicine and Interoperability, Berlin Institute of Health (BIH) at Charité - Universitätsmedizin Berlin, Berlin, Germany.
Jazyk:	angličtina
Zdroj:	Journal of the American Medical Informatics Association : JAMIA [J Am Med Inform Assoc] 2023 May 19; Vol. 30 (6), pp. 1179-1189.
DOI:	10.1093/jamia/ocad061
Abstrakt:	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. (© The Author(s) 2023. Published by Oxford University Press on behalf of the American Medical Informatics Association.)
Databáze:	MEDLINE
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