PGx Impact - Allele functional status

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    • Type: Change Request
    • Resolution: Unresolved
    • Priority: Medium

      In this paper, work was done to standardize nomenclature for reporting PGx results. This table summarizes:

      https://www.nature.com/articles/gim201687/tables/2

      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?

            Assignee:
            Unassigned
            Reporter:
            Kevin Power
            Watchers:
            2 Start watching this issue

              Created:
              Updated: