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- Publisher
- Oxford University Press
- Copyright
- © The Author(s) 2021. Published by Oxford University Press on behalf of the American Medical Informatics Association. All rights reserved. For permissions, please email: journals.permissions@oup.com
- ISSN
- 1067-5027
- eISSN
- 1527-974X
- DOI
- 10.1093/jamia/ocab201
- Publisher site
- See Article on Publisher Site
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.
Journal
Journal of the American Medical Informatics Association – Oxford University Press
Published: Sep 27, 2021
Keywords: biomedical informatics; FHIR; genetic test reporting; interoperability; genetic results