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

: GenomicReportExample01 - JSON Representation

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{
  "resourceType" : "DiagnosticReport",
  "id" : "GenomicReportExample01",
  "meta" : {
    "profile" : [
      🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report"
    ]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><h2><span title=\"Codes: {http://loinc.org 51969-4}, {http://loinc.org 57979-7}\">HLA-B*15:02 [Presence]</span> (<span title=\"Codes: {http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span>) </h2><table class=\"grid\"><tr><td>Subject</td><td><b>Adam B. Everyman </b> male, DoB: 1951-01-20 ( Medical Record Number/m123\u00a0(use:\u00a0usual))</td></tr><tr><td>When For</td><td>2016</td></tr><tr><td>Reported</td><td>2018-03-06 00:00:00-0500</td></tr></table><p><b>Report Details</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>When For</b></td></tr><tr><td><a href=\"Observation-TherapeuticImplicationExample1.html\"><span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}\">Therapeutic Implication</span></a></td><td/><td>2019-04-01</td></tr><tr><td><a href=\"Observation-GenotypeExample1.html\"><span title=\"Codes: {http://loinc.org 84413-4}\">Genotype name Patient</span></a></td><td><span title=\"Codes: {http://www.ncbi.nlm.nih.gov/clinvar 14909}\">HLA-B*15:02</span></td><td>2019-04-01</td></tr></table><p>Patient is positive for high risk allele HLA-B*15:02 and should not be treated with CBZ.</p><p><b>Coded Conclusions :</b></p><ul><li><span title=\"Codes: {http://loinc.org LA6576-8}\">Positive</span></li></ul></div>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action",
      "valueReference" : {
        🔗 "reference" : "Task/MedicationRecommendationExample1"
      }
    },
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact",
      "valueRelatedArtifact" : {
        "type" : "citation",
        "url" : "https://cpicpgx.org/guidelines/guideline-for-clopidogrel-and-cyp2c19)"
      }
    }
  ],
  "basedOn" : [
    {
      🔗 "reference" : "ServiceRequest/GenomicServiceRequestExample01"
    }
  ],
  "status" : "final",
  "category" : [
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code" : "GE"
        }
      ]
    }
  ],
  "code" : {
    "coding" : [
      {
        "system" : "http://loinc.org",
        "code" : "51969-4"
      },
      {
        "system" : "http://loinc.org",
        "code" : "57979-7",
        "display" : "HLA-B*15:02 [Presence]"
      }
    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/CGPatientExample01"
  },
  "effectiveDateTime" : "2016",
  "issued" : "2018-03-06T00:00:00-05:00",
  "performer" : [
    {
      🔗 "reference" : "Organization/ExampleOrg"
    }
  ],
  "result" : [
    {
      🔗 "reference" : "Observation/TherapeuticImplicationExample1",
      "display" : "impact for high risk allele"
    },
    {
      🔗 "reference" : "Observation/GenotypeExample1"
    }
  ],
  "conclusion" : "Patient is positive for high risk allele HLA-B*15:02 and should not be treated with CBZ.",
  "conclusionCode" : [
    {
      "coding" : [
        {
          "system" : "http://loinc.org",
          "code" : "LA6576-8",
          "display" : "Positive"
        }
      ]
    }
  ]
}