Genetic Kidney Disease Summary
The SNOMED CT Genomics pilot used the Australian Genomics Renal Genetics Flagship, where a set of clinical diagnoses originally captured as free text were transformed into SNOMED CT codes. This was done as a prerequisite of the second phase, which then used the codes to analyse how diagnoses change during a patient’s journey through a multidisciplinary renal clinic. The coding exercise revealed that most codes that represent diagnosis in this clinical area are available in SNOMED CT, but gaps do exist. The pilot provides recommendations to SNOMED International around including new concepts, adding synonyms to existing concepts and fixing issues in the current content. The pilot also highlighted challenges related to genomics and provides high-level recommendations on how to address them in the future.
The second phase of a pilot developed the simple analytics use case around the evolution of patients’ diagnoses which was then implemented in a FHIR-based analytics platform. The clinical data was represented in FHIR, with code fields using concepts from SNOMED CT. The implementation revealed the need for a new subsumption function in the analytics framework. The raw output of the implementation was used to produce a visualisation that makes it easy to get a high-level view of the behaviour at the cohort level.
The results of the project have been very well received by the lead clinicians and this is important because it will help promote the adoption of SNOMED CT and will incentivise clinical users to enter high-quality coded data for their patients. Future work will expand the initial analyses to include more fine grained categories and will also replicated this implementation across other flagships within Australian Genomics.
Genomic Pilot Reports - Genetic Kidney Disease
PHASE.1.
PHASE.2.
Summary presentations
Phase.1. Interim report findings
Phase.2. Final report findings