Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

: PharmGKB Evidence Level Example Codes - XML Representation

Active as of 2024-04-09

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<CodeSystem xmlns="http://hl7.org/fhir">
  <id value="pharmgkb-evidence-level-custom-cs"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p>This case-sensitive code system <code>http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/pharmgkb-evidence-level-custom-cs</code> defines the following codes:</p><table class="codes"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td style="white-space:nowrap">1A<a name="pharmgkb-evidence-level-custom-cs-1A"> </a></td><td>PGKB 1A</td><td>High level of evidence. Supported by a guideline or FDA label with variant specific prescribing guidance. Additionally, supported by at least one publication.</td></tr><tr><td style="white-space:nowrap">1B<a name="pharmgkb-evidence-level-custom-cs-1B"> </a></td><td>PGKB 1B</td><td>High level of evidence. But, NOT supported by a guideline or FDA label with variant specific prescribing guidance. Additionally, supported by at least one publication.</td></tr><tr><td style="white-space:nowrap">2A<a name="pharmgkb-evidence-level-custom-cs-2A"> </a></td><td>PGKB 2A</td><td>Moderate level of evidence. Supported by being a KNOWN pharmacogene on https://www.pharmgkb.org/vips. Also, found in multiple studies but may have a minority of studies that did not support the majority opinion. Supported by at least two indpendent publications.</td></tr><tr><td style="white-space:nowrap">2B<a name="pharmgkb-evidence-level-custom-cs-2B"> </a></td><td>PGKB 2B</td><td>Moderate level of evidence. NOT in the list of very important, KNOWN pharmacogenes. Found in multiple studies but may have a minority of studies that did not support the majority opinion. Supported by at least two indpendent publications.</td></tr><tr><td style="white-space:nowrap">3<a name="pharmgkb-evidence-level-custom-cs-3"> </a></td><td>PGKB 3</td><td>Low-level of evidence. Where either the assocation is based on a single study, failed to be reproduced, or preliminary evidence.</td></tr><tr><td style="white-space:nowrap">4<a name="pharmgkb-evidence-level-custom-cs-4"> </a></td><td>PGKB 4</td><td>The evidence does not support an association between the variant and the drug phenotype. (negative)</td></tr></table></div>
  </text>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
    <valueCode value="cg"/>
  </extension>
  <url
       value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/pharmgkb-evidence-level-custom-cs"/>
  <version value="3.0.1-SNAPSHOT"/>
  <name value="PharmGKBEvidenceLevelCustomCS"/>
  <title value="PharmGKB Evidence Level Example Codes"/>
  <status value="active"/>
  <experimental value="false"/>
  <date value="2024-04-09T13:57:55+00:00"/>
  <publisher value="HL7 International / Clinical Genomics"/>
  <contact>
    <name value="HL7 International / Clinical Genomics"/>
    <telecom>
      <system value="url"/>
      <value value="http://www.hl7.org/Special/committees/clingenomics"/>
    </telecom>
    <telecom>
      <system value="email"/>
      <value value="cg@lists.HL7.org"/>
    </telecom>
  </contact>
  <description
               value="PharmGKB contains examples of evidence level concepts that are not conflated with clinical significance. These can be found on PharmGKB https://www.pharmgkb.org/page/clinAnnLevels. These examples are informational only, for copyright information contact the relevant source."/>
  <jurisdiction>
    <coding>
      <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
      <code value="001"/>
      <display value="World"/>
    </coding>
  </jurisdiction>
  <caseSensitive value="true"/>
  <content value="complete"/>
  <count value="6"/>
  <concept>
    <code value="1A"/>
    <display value="PGKB 1A"/>
    <definition
                value="High level of evidence. Supported by a guideline or FDA label with variant specific prescribing guidance. Additionally, supported by at least one publication."/>
  </concept>
  <concept>
    <code value="1B"/>
    <display value="PGKB 1B"/>
    <definition
                value="High level of evidence. But, NOT supported by a guideline or FDA label with variant specific prescribing guidance. Additionally, supported by at least one publication."/>
  </concept>
  <concept>
    <code value="2A"/>
    <display value="PGKB 2A"/>
    <definition
                value="Moderate level of evidence. Supported by being a KNOWN pharmacogene on https://www.pharmgkb.org/vips. Also, found in multiple studies but may have a minority of studies that did not support the majority opinion. Supported by at least two indpendent publications."/>
  </concept>
  <concept>
    <code value="2B"/>
    <display value="PGKB 2B"/>
    <definition
                value="Moderate level of evidence. NOT in the list of very important, KNOWN pharmacogenes. Found in multiple studies but may have a minority of studies that did not support the majority opinion. Supported by at least two indpendent publications."/>
  </concept>
  <concept>
    <code value="3"/>
    <display value="PGKB 3"/>
    <definition
                value="Low-level of evidence. Where either the assocation is based on a single study, failed to be reproduced, or preliminary evidence."/>
  </concept>
  <concept>
    <code value="4"/>
    <display value="PGKB 4"/>
    <definition
                value="The evidence does not support an association between the variant and the drug phenotype. (negative)"/>
  </concept>
</CodeSystem>