Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions

: TxImp06 - XML Representation

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<Observation xmlns="http://hl7.org/fhir">
  <id value="TxImp06"/>
  <meta>
    <profile
             value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication"/>
  </meta>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml">Normal metabolizer of Warfarin</div>
  </text>
  <extension
             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-artifact">
    <valueRelatedArtifact>
      <type value="citation"/>
      <url
           value="https://cpicpgx.org/guidelines/guideline-for-warfarin-and-cyp2c9-and-vkorc1/"/>
    </valueRelatedArtifact>
  </extension>
  <status value="final"/>
  <category>
    <coding>
      <system value="http://terminology.hl7.org/CodeSystem/observation-category"/>
      <code value="laboratory"/>
    </coding>
  </category>
  <code>
    <coding>
      <system
              value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
      <code value="therapeutic-implication"/>
    </coding>
  </code>
  <derivedFrom>
    <reference value="Observation/Pgx-geno-1002"/>
    <display value="CYP2C9*1/*1"/>
  </derivedFrom>
  <derivedFrom>
    <reference value="Observation/Pgx-geno-1003"/>
    <display value="VKORC1 rs9923231 C/T"/>
  </derivedFrom>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="51963-7"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://ncimeta.nci.nih.gov"/>
        <code value="C0043031"/>
        <display value="warfarin"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system
                value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
        <code value="predicted-therapeutic-implication"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://loinc.org"/>
        <code value="LA25391-6"/>
        <display value="Normal metabolizer"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system
                value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
        <code value="conclusion-string"/>
      </coding>
    </code>
    <valueString
                 value="This individual is homozygous for the normal allele for the CYP2C9 gene. Based on the genotype result, this patient is predicted to have normal CYP2C9 function. This individual is also heterozygous for the variant allele for the VKORC1 gene. Expression level of the VKORC1 gene is associated with warfarin sensitivity. Based on the genotype result, this patient is predicted to have medium sensitivity to warfarin. See https://cpicpgx.org/guidelines/guideline-for-warfarin-and-cyp2c9-and-vkorc1/ guidelines for detail."/>
  </component>
</Observation>