Adaptation of HL7 FHIR for the Exchange of Patients' Gene Expression Profiles.

High-throughput technologies, especially gene expression analyses can accurately capture the molecular state in patients under different conditions. Thus, their application in clinical routine gains increasing relevance and fosters patient stratification towards individualized treatment decisions. Electronic health records already evolved to capture genomic data within clinical systems and standards like FHIR enable sharing within, and even between institutions. However, FHIR only provides profiles tailored to variations in the molecular sequence, while expression patterns are neglected although being equally important for decision making. Here we provide an exemplary implementation of gene expression profiles of a microarray analysis of patients with acute myeloid leukemia using an adaptation of the FHIR genomics extension. Our results demonstrate how FHIR resources can be facilitated in clinical systems and thereby pave the way for usage for the aggregation and exchange of transcriptomic data in multi-center studies.

Implementation of Gene Expression Profiles in the HL7 FHIR Standard.

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.