The clinical picture implementation guide defines a standard way of representing clinical concepts that are relevant for genomics, including patient phenotypes, using the FHIR standard. Patient information can come from multiple sources, including electronic health record systems (EHRs), electronic data capture systems such as REDCap, and laboratory information management systems (LIMs). It is designed for use in a research setting and therefore requires participant information to be de-identified. The FHIR profiles contain strict terminology bindings that ensure queries can be run consistently across multiple repositories. This implies, however, that data might require mapping and transformation, even when being imported from FHIR-enabled sources.
The Clinical Picture FHIR Implementation Guide, developed by CSIRO’s Australian e-Health Research Centre, defines a standard way of representing clinical concepts that are relevant for genomics, including patient phenotypes, using the FHIR standard.
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Alejandro Metke