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  1. FHIR Specification Feedback
  2. FHIR-16082

PGx Impact - Allele functional status

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    • Type: Change Request
    • Status: Triaged (View Workflow)
    • Priority: Medium
    • Resolution: Unresolved

      Description

      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?

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              Assignee:
              Unassigned Unassigned
              Reporter:
              cerkyp Kevin Power
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                Updated: