Genomics Reporting Implementation Guide
1.1.0 - Ballot

This page is part of the Genetic Reporting Implementation Guide (v1.1.0: STU 2 Ballot 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

: Example - Observation PGx interpretation - XML Representation

Raw xml | Download



<Observation xmlns="http://hl7.org/fhir">
  <id value="OverallInterpExample2"/>
  <meta>
    <profile
             value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/overall-interpretation"/>
  </meta>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative</b></p><p></p><p><b>category</b>: <span title="Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span></p><p><b>code</b>: <span title="Codes: {http://loinc.org 51968-6}">Discrete variation analysis overall interpretation</span></p><p><b>subject</b>: <a href="Patient-CGPatientExample01.html">Generated Summary: Medical Record Number: m123 (USUAL); Adam B. Everyman ; gender: male; birthDate: 1951-01-20</a></p><p><b>value</b>: <span title="Codes: {http://loinc.org LA6576-8}">Positive</span></p><p><b>specimen</b>: <a href="Specimen-GenomicSpecimenExample01.html">Generated Summary: status: available; <span title="Codes: {http://terminology.hl7.org/CodeSystem/v2-0487 TISS}">Tissue</span></a></p><h3>Components</h3><table class="grid"><tr><td>-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td>*</td><td><span title="Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes conclusion-string}">Conclusion text</span></td><td>Based on the genotype result, this patient is predicted to have a CYP2C19 poor metabolizer phenotype. This genotype information can be used by patients and clinicians as part of the shared decision-making process for several drugs metabolized by CYP2C19 including clopidogrel, voriconazole, amitriptyline, citalopram and escitalopram.</td></tr></table></div>
  </text>
  <status value="final"/>
  <category>
    <coding>
      <system value="http://terminology.hl7.org/CodeSystem/observation-category"/>
      <code value="laboratory"/>
    </coding>
  </category>
  <code>
    <coding>
      <system value="http://loinc.org"/>
      <code value="51968-6"/>
    </coding>
  </code>
  <subject>
    <reference value="Patient/CGPatientExample01"/>
  </subject>
  <valueCodeableConcept>
    <coding>
      <system value="http://loinc.org"/>
      <code value="LA6576-8"/>
      <display value="Positive"/>
    </coding>
  </valueCodeableConcept>
  <specimen>
    <reference value="Specimen/GenomicSpecimenExample01"/>
  </specimen>
  <component>
    <code>
      <coding>
        <system
                value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes"/>
        <code value="conclusion-string"/>
      </coding>
    </code>
    <valueString
                 value="Based on the genotype result, this patient is predicted to have a CYP2C19 poor metabolizer phenotype. This genotype information can be used by patients and clinicians as part of the shared decision-making process for several drugs metabolized by CYP2C19 including clopidogrel, voriconazole, amitriptyline, citalopram and escitalopram."/>
  </component>
</Observation>