PharmGKB Evidence Level Example Codes

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CodeSystem

PharmGKB enthält Beispiele für Konzepte der Evidenzstufe, die nicht mit der klinischen Bedeutung verwechselt werden. Diese können auf PharmGKB https://www.pharmgkb.org/page/clinAnnLevels gefunden werden.

Canonical: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/pharmgkb-evidence-level-custom-cs

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Das CodeSystem PharmGKB Evidence Level Example Codes stammt aus HL7 Genomics Reporting Implementation Guide.

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{
    "resourceType": "CodeSystem",
    "id": "pharmgkb-evidence-level-custom-cs",
    "text": {
        "status": "generated",
        --- We have skipped the narrative for better readability of the resource ---
    },
    "url": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/pharmgkb-evidence-level-custom-cs",
    "version": "2.0.0",
    "name": "PharmGKBEvidenceLevelCustomCS",
    "title": "PharmGKB Evidence Level Example Codes",
    "status": "active",
    "date": "2022-05-09T16:53:07+00:00",
    "publisher": "HL7 Clinical Genomics Working Group",
    "contact":  [
        {
            "name": "HL7 Clinical Genomics Working Group",
            "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)"
        }
    ]
}

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