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201801 Pharmacogenomics CDS

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Pharmacogenomics CDS

Submitting WG/Project/Implementer Group

Clinical Genomics WG


Proposed Track Lead

Bob Dolin (

See Connectathon_Track_Lead_Responsibilities

Expected participants

  • Elimu
  • Cerner
  • Children’s Mercy Hospital

Please contact track lead or post to CG list if you're interested in participating!


PGx CDS Service

PGx CDS Service will interact with EHR (via CDS Hooks), OMIC Data Store (for genomoic observations), and Terminology Server (for medication value sets).

OMIC Data Store

Will store genomic observations


Order entry of a medication triggers a “medication-prescribe” CDS hook which invokes the PGx CDS Service and provides it with a FHIR MedicationOrder instance.

Terminology Service

The PGx CDS Service will ping the terminology server to see if the ordered drug is in an “Actionable PGx Drug” value set.


Please see detailed storyboard here:

A swim-lane overview of the scenario is here:


Action: [1] (EHR) Manually enter an order for "Imuran 50mg 1 tablet twice a day by mouth" into order entry system. This triggers a “medication-prescribe” CDS hook with a hook context of MedicationOrder which includes RxNorm code 197388 for azathioprine 50mg oral tablet; [2] (PGx CDS Service) Having been triggered by the “medication-prescribe” CDS hook, the PGx CDS Service now executes a decision support rule that [1] determines if the ordered drug has a known gene interaction; [2] determines, where there is a known drug-gene interaction, whether or not the patient has genetic test results on file; [3] determines, where there are genetic test results on file, if the patient has an interacting genotype; [4] determines, where there are not genetic test results on file, if the patient needs pre-testing. PGx CDS Service returns a CDS hooks “information card” back to the EHR, with appropriate recommendations.
Precondition: Genomic observation(s) are available for some patients.
Success Criteria: Retrieve relevant observations (on TPMT gene, on allelic state) where they exist.
Bonus point: Search OMIC data store for different potential representations.
Reference: Azathioprine Pharmacogenomics - CPIC recommendations [1]


Security and Privacy Considerations

Findings and Conclusions

Findings and conclusions from the session are captured here: