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. 2021 Nov 25;28(12):2617-2625.
doi: 10.1093/jamia/ocab201.

Interoperable genetic lab test reports: mapping key data elements to HL7 FHIR specifications and professional reporting guidelines

Aly Khalifa  1 , Clinton C Mason  2 , Jennifer Hornung Garvin  1   3   4 , Marc S Williams  5 , Guilherme Del Fiol  1 , Brian R Jackson  1   6 , Steven B Bleyl  2   7 , Gil Alterovitz  8   9 , Stanley M Huff  1   10
Affiliations

Interoperable genetic lab test reports: mapping key data elements to HL7 FHIR specifications and professional reporting guidelines

Aly Khalifa et al. J Am Med Inform Assoc. .

Abstract

Objective: In many cases, genetic testing labs provide their test reports as portable document format files or scanned images, which limits the availability of the contained information to advanced informatics solutions, such as automated clinical decision support systems. One of the promising standards that aims to address this limitation is Health Level Seven International (HL7) Fast Healthcare Interoperability Resources Clinical Genomics Implementation Guide-Release 1 (FHIR CG IG STU1). This study aims to identify various data content of some genetic lab test reports and map them to FHIR CG IG specification to assess its coverage and to provide some suggestions for standard development and implementation.

Materials and methods: We analyzed sample reports of 4 genetic tests and relevant professional reporting guidelines to identify their key data elements (KDEs) that were then mapped to FHIR CG IG.

Results: We identified 36 common KDEs among the analyzed genetic test reports, in addition to other unique KDEs for each genetic test. Relevant suggestions were made to guide the standard implementation and development.

Discussion and conclusion: The FHIR CG IG covers the majority of the identified KDEs. However, we suggested some FHIR extensions that might better represent some KDEs. These extensions may be relevant to FHIR implementations or future FHIR updates.The FHIR CG IG is an excellent step toward the interoperability of genetic lab test reports. However, it is a work-in-progress that needs informative and continuous input from the clinical genetics' community, specifically professional organizations, systems implementers, and genetic knowledgebase providers.

Keywords: FHIR; biomedical informatics; genetic results; genetic test reporting; interoperability.

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Figures

Figure 1.
Figure 1.
Genomic lab test report as a composition of multiple FHIR Resources. The star indicates the first resource that may need to be established in an FHIR-based communication. There are 2 ServiceRequest resources: one represents the test order that initiated the conducted genetic test (denoted by star), while the other represents future services that are recommended based on the test results. More details are in Table 2. Arrows directions represent referencing directions between depicted FHIR resources and profiles. “Attachment” is an FHIR datatype. FHIR: Fast Healthcare Interoperability Resources.
See this image and copyright information in PMC

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