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Status:
Implemented
Category:
Electronic health record
Description
Genomics is the new frontier in clinical care and scientific discovery. Genomic assessments of oncogenes and tumor suppressor genes, that is gene loci associated with cancer development and prognosis, is rapidly becoming the standard of care for cancer.
Scope
The developments supports the following:
Biomarker data to genomic data
Immunohistochemistry (IHC)
FISH Sanger Sequencing
Next Generation Sequencing (Targeted gene loci and Whole genome and exome)
Diagnosis to Precision Medicine Histopathology – Diagnose IHC – Differential Diagnoses/Prognosis Molecular Pathology Diagnosis/Prognosis and targeted therapy
How SNOMED CT will be used
All concepts modeled according to SNOMED-LOINC cooperative agreement
LOINC identifiers
Full SNOMED CT concept model definitions
Observable entity hierarchy
New SNOMED CT content required
Body structures – gene loci definitions for proto-oncogenes
Primitive concepts with reference sets to Human Genome Nomenclature Committee (HGNC) identifiers
Inherent location of sample (neoplasm vs. non-neoplastic) differentiates somatic vs. germline mutation
New Property type –Sequence variant property
New Technique – Nucleotide sequencing technique
Why SNOMED CT will be used
The EHR system currently utilises SNOMED CT. The ontological basis of SNOMED CT supports linkage of clinical data to genetic information, the transfer of linked data and the interrogation of linked data within the Biobank environment.
