Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild 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 - JSON Representation

Page standards status: Informative

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    {
      "resourceType" : "CodeSystem",
      "id" : "pharmgkb-evidence-level-custom-cs",
      "text" : {
        "status" : "generated",
        "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem pharmgkb-evidence-level-custom-cs</b></p><a name=\"pharmgkb-evidence-level-custom-cs\"> </a><a name=\"hcpharmgkb-evidence-level-custom-cs\"> </a><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>"
      },
      "extension" : [
        {
          "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
          "valueCode" : "cg"
        },
        {
          "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
          "valueCode" : "informative",
          "_valueCode" : {
            "extension" : [
              {
                "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
                "valueCanonical" : "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"
              }
            ]
          }
        }
      ],
      "url" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/pharmgkb-evidence-level-custom-cs",
      "version" : "4.0.0-cibuild",
      "name" : "PharmGKBEvidenceLevelCustomCS",
      "title" : "PharmGKB Evidence Level Example Codes",
      "status" : "active",
      "experimental" : true,
      "date" : "2025-11-08T00:09:50+00:00",
      "publisher" : "HL7 International / Clinical Genomics",
      "contact" : [
        {
          "name" : "HL7 International / Clinical Genomics",
          "telecom" : [
            {
              "system" : "url",
              "value" : "http://www.hl7.org/Special/committees/clingenomics"
            },
            {
              "system" : "email",
              "value" : "cg@lists.HL7.org"
            }
          ]
        }
      ],
      "description" : "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" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
              "code" : "001",
              "display" : "World"
            }
          ]
        }
      ],
      "caseSensitive" : true,
      "content" : "complete",
      "count" : 6,
      "concept" : [
        {
          "code" : "1A",
          "display" : "PGKB 1A",
          "definition" : "High level of evidence. Supported by a guideline or FDA label with variant specific prescribing guidance. Additionally, supported by at least one publication."
        },
        {
          "code" : "1B",
          "display" : "PGKB 1B",
          "definition" : "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."
        },
        {
          "code" : "2A",
          "display" : "PGKB 2A",
          "definition" : "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."
        },
        {
          "code" : "2B",
          "display" : "PGKB 2B",
          "definition" : "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."
        },
        {
          "code" : "3",
          "display" : "PGKB 3",
          "definition" : "Low-level of evidence. Where either the assocation is based on a single study, failed to be reproduced, or preliminary evidence."
        },
        {
          "code" : "4",
          "display" : "PGKB 4",
          "definition" : "The evidence does not support an association between the variant and the drug phenotype. (negative)"
        }
      ]
    }