Type: Change Request
Status: Triaged (View Workflow)
In this paper, work was done to standardize nomenclature for reporting PGx results. This table summarizes:
Under 'Medication Impact', we have profiles that do match up to the "Term/gene category" that are called out above:
Phenotype: high-risk genotype = "High Risk Allele (83009-1)",
Phenotype: drug-metabolizing enzymes = "Genotype Medication Metabolism Impact (53040-2)"
We are missing "Allele functional status" (increased function, normal function, etc ...) - Should we add a new profile for Allele Functional Status?