AI Article Synopsis
- The study aimed to create a standardized dataset definition and FHIR® specification for key data in German molecular genomics reports, promoting better integration into electronic health records.
- An expert group identified 76 essential data elements grouped into 6 categories, using HL7’s Genomics Reporting Guide as a foundational framework for the FHIR® specification, which included 16 profiles.
- The findings provide a model that can help other research projects standardize genomic report data, ultimately improving the integration of genomic information for clinical use.
Article Abstract
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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10198526 | PMC |
| http://dx.doi.org/10.1093/jamia/ocad061 | DOI Listing |
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