HCLSIG/Pharmacogenomics/Use Cases

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  • PGx at Point of Care
    • A physician interacts with a electronic health system in order to provide record observations and specify medication. Upon entering the medication order, the physician is alerted that that a more accurate initial dose can be made using genetic data, and prompts the physician to order the genetic test. On receiving the test result and storing it in the EHR, the system triggers a service to obtain dosing based on required elements of the EHR. On a follow up visit, the physician is notified that the medication order is ready and can be provided to the patient.
    • requires: EMR system, request and response for genetic test panel, request and response for dosing algorithm.


  • Describe information associated with a genetic marker (e.g., association with disease risk, validated usefulness as a clinical biomarker, available diagnostic tests).
  • Provide evidence and provenance of different claims.
  • A patient is shown to carry a specific genetic marker. What other genetic markers can we infer that the patient has? For example: alleles from genotypes, haplotypes from genotypes, genotypes from genotypes (genetic linkage)
  • Describe the pharmacogenetic impact on the pharmacokinetics (clearance) and/or pharmacodynamics (effect) of a given drug
  • Clinical decision support: Generate a report of relevant and actionable information relating to risk factors and comparative efficacy of medications.
  • A physician is entering a medication order for a specific patient into the computerized order entry system. There is no genetic data for the patient available in the system. Given basic patient data (e.g., age, sex, ethnicity, other prescribed medications), are there some diagnostic tests that should be recommended to improve treatment selection? An example could be an order entry for Warfarin that triggers the reminder that the patient could benefit from genetic testing for optimizing Warfarin dosing.
  • When new information is discovered about a genetic variant (e.g., impact on dosing guidelines), it should be possible to identify all patients within the system that could be affected by the new information.
  • An oncologist wants to know what is the best available treatment for a cancer patient based on his genetic profile
  • A physician wants to know if a patient will react adversely to a combination of drugs.
  • ACE inhibitors can have a variety of severe adverse drug reaction, including ACEi-angioedema, a potentially life-threatening reaction [ref http://www.ncbi.nlm.nih.gov/pubmed/21898657]. Before prescribing ACT to a high blood pressure patient, the physician wants to know if the patient’s particular variants of the XPNPEP2 gene (haplotype ATG) will put the patient at an increased risk of developing ACEi-angioedema.
  • pharmoglycomics?

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