New PGx Impact: Transporter

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    • Type: Change Request
    • Resolution: Persuasive
    • Priority: Medium
    • Genomics Reporting (FHIR)
    • STU3
    • Clinical Genomics
    • (profiles) [deprecated]
    • Hide

      Persuasive

      Add new profile mirroring obs-metabolism.

      NOTE: Will consider combining PGx profiles in the future but not a priority at this time.

      Show
      Persuasive Add new profile mirroring obs-metabolism. NOTE: Will consider combining PGx profiles in the future but not a priority at this time.
    • James J / Kevin P: 13-0-0
    • Enhancement
    • Compatible, substantive

      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 "Phenotype: transporters" (example given was SLCO1B1: Increased Function, Normal Function, etc ...) - should we add transporters as a new profile?

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

              Created:
              Updated:
              Resolved: