Implementation of Gene Expression Profiles in the HL7 FHIR Standard

Stud Health Technol Inform. 2022 May 25:294:417-418. doi: 10.3233/SHTI220490.

Abstract

Gene expression profiles can capture significant molecular differences paving the way toward precision medicine. However, clinical standards like FHIR only provide encoding of molecular sequence variations, even so, expression patterns are equally important for decision making. Here we provide an exemplary implementation of gene expression profiles of a microarray analysis using an adaption of the FHIR Genomics extension. Our results demonstrate how FHIR resources can be facilitated in bioinformatics-based decision support systems or used for the aggregation of molecular genetics data in multi-center clinical trials.

Keywords: FHIR; gene expression; interoperability; omics.

MeSH terms

  • Electronic Health Records*
  • Genomics
  • Health Level Seven*
  • Precision Medicine
  • Transcriptome