ArticleJournal of the American Medical Informatics Association : JAMIA2021
Interoperable genetic lab test reports: mapping key data elements to HL7 FHIR specifications and professional reporting guidelines.
Article in Journal of the American Medical Informatics Association : JAMIA, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Assessment of the adequacy of the Fast Healthcare Interoperability Resources (FHIR) Genomics standard for the representation of somatic testing reports.JAMIA open · 2026Article
- Genomics on FHIR - a feasibility study to support a National Strategy for Genomic Medicine.NPJ genomic medicine · 2025Article
- State-of-the-Art Fast Healthcare Interoperability Resources (FHIR)-Based Data Model and Structure Implementations: Systematic Scoping Review.JMIR medical informatics · 2024Article
- Promoting equity in polygenic risk assessment through global collaboration.Nature genetics · 2024Review
- Designing Interoperable Health Care Services Based on Fast Healthcare Interoperability Resources: Literature Review.JMIR medical informatics · 2023Review
- 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 : JAMIA · 2023Article
- Defining health data elements under the HL7 development framework for metadata management.Journal of biomedical semantics · 2022Article
- Meeting the Moment: Addressing Barriers and Facilitating Clinical Adoption of Artificial Intelligence in Medical Diagnosis.NAM perspectives · 2022Review
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveIn 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
methodsWe 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.
resultsWe 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
conclusionThe 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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.