Phenomics Exchange for Research
Identify ways in which FHIR can enable EHRs to be appropriately extended with phenotypic information using the Phenopacket file format
Phenotype information needed for genomic health is not readily available within the EHR and is not provided in a computable manner across the ecosystem. Recording of such information currently requires burdensome manual curation of patient information outside the EHR. If improved mappings and functionality can be realized using FHIR, there could be an automated population of a computable element, the Phenopackets, made available directly from the EHR. This information could be supplanted by the clinician for use in genomic interpretation
Define FHIR-based phenotypic data exchange and document in the Phenomics Exchange for Research and Diagnostics FHIR IG
Develop mappings between the Phenopackets and FHIR data models
Develop tools and programming libraries
Follow the link to Confluence for more detail.