Login / Signup

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

Aly KhalifaClinton C MasonJennifer Hornung GarvinMarc S WilliamsGuilherme Del FiolBrian R JacksonSteven B BleylGil AlterovitzStanley M Huff
Published in: Journal of the American Medical Informatics Association : JAMIA (2022)
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.
Keyphrases
  • genome wide
  • adverse drug
  • electronic health record
  • copy number
  • healthcare
  • mental health
  • high resolution
  • dna methylation
  • mass spectrometry
  • machine learning
  • big data
  • current status
  • deep learning
  • clinical practice