OMICS - Molecular Genomics Report

A molecular genomics report is being developed as one of several extension modules to the Medical Informatics Initiative’s core data set. It enables the representation of reports that communicate findings of pathological and wild type variants detected as result of performing a set of requested sequence- and non-sequence-based tests.  

Led by the CEI, a data set description along with an UML-class diagram has been created in an iterative process and in consultation with clinical subject matter experts. As part of this process, example genomic findings reports have been evaluated to determine necessary data elements. Building on HL7 International’s “genomics reporting” implementation guide, the data set we have defined is currently being profiled in FHIR®. All relevant earlier works that have been developed in international genomics-focused projects (such as mCODE and GA4GH) are being integrated and considered as we go along.