{
  "description": "Guidelines for reporting of clinical genomics results using HL7 FHIR",
  "_filename": "ImplementationGuide-hl7.fhir.uv.genomics-reporting.json",
  "package_name": "hl7.fhir.uv.genomics-reporting",
  "definition": {
    "page": {
      "page": [ {
        "page": [ {
          "title": "Genomics Background",
          "nameUrl": "background.html",
          "generation": "html"
        }, {
          "title": "General Genomic Reporting",
          "nameUrl": "general.html",
          "generation": "html"
        }, {
          "title": "Variant Reporting",
          "nameUrl": "sequencing.html",
          "generation": "html"
        }, {
          "title": "Pharmacogenomic Reporting",
          "nameUrl": "pharmacogenomics.html",
          "generation": "markdown"
        }, {
          "title": "Somatic Reporting",
          "nameUrl": "somatics.html",
          "generation": "html"
        }, {
          "title": "Histocompatibility and Immunogenetics Reporting",
          "nameUrl": "histocompatibility.html",
          "generation": "html"
        }, {
          "title": "Appendix A: Relation to v2 reporting",
          "nameUrl": "v2.html",
          "generation": "html"
        }, {
          "title": "Appendix B: Clinical Genomic Apps",
          "nameUrl": "cgapps.html",
          "generation": "html"
        }, {
          "title": "Appendix C: HL7 Domain Analysis Model",
          "nameUrl": "domain.html",
          "generation": "html"
        }, {
          "title": "Appendix D: External Coding Systems",
          "nameUrl": "codings.html",
          "generation": "html"
        }, {
          "title": "Appendix E: Conversion from STU3 Extensions",
          "nameUrl": "conversion.html",
          "generation": "html"
        }, {
          "title": "Appendix F: Molecular Sequence",
          "nameUrl": "molecularSequence.html",
          "generation": "html"
        }, {
          "title": "Appendix G: Glossary",
          "nameUrl": "Glossary.html",
          "generation": "html"
        } ],
        "title": "IG Home Page",
        "nameUrl": "index.html",
        "generation": "html"
      }, {
        "title": "Artifact List",
        "nameUrl": "artifacts.html",
        "generation": "html"
      }, {
        "title": "Operations",
        "nameUrl": "operations.html",
        "generation": "html"
      }, {
        "title": "Query Examples",
        "nameUrl": "usecases.html",
        "generation": "html"
      }, {
        "title": "Useful Downloads",
        "nameUrl": "downloads.html",
        "generation": "html"
      } ],
      "title": "Table of Contents",
      "nameUrl": "toc.html",
      "generation": "html"
    },
    "grouping": [ {
      "id": "general",
      "name": "General Profiles",
      "description": "General constraints on FHIR resources to be adhered to as part of the CG implementation guide that apply regardless of what area(s) of genomics are of interest"
    }, {
      "id": "implications",
      "name": "Implications",
      "description": "Profiles needed for linking genomic findings to knowledgebases for diagnostic or therapeutic use"
    }, {
      "id": "abstract",
      "name": "Abstract",
      "description": "Abstract profiles holding common properties, outlining similarities in implementable profiles"
    }, {
      "id": "extensions",
      "name": "Extensions",
      "description": "Extensions defined as part of the CG implementation guide"
    }, {
      "id": "codesystems",
      "name": "Code Systems",
      "description": "Code Systems defined in this implementation guide"
    }, {
      "id": "valuesets",
      "name": "Value Sets",
      "description": "Value Sets defined in this implementation guide"
    }, {
      "id": "conceptmaps",
      "name": "Concept Maps",
      "description": "Concept Maps defined in this implementation guide"
    }, {
      "id": "operations",
      "name": "Operations",
      "description": "Operations defined in this implementation guide"
    }, {
      "id": "examples",
      "name": "Examples",
      "description": "Examples showing the use of the CG profiles"
    } ],
    "resource": [ {
      "name": "Request for Genomics Test",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "StructureDefinition:resource"
      } ],
      "reference": {
        "reference": "StructureDefinition/servicerequest"
      },
      "groupingId": "general",
      "description": "The lab order or request that triggered the execution of the genomics test",
      "exampleBoolean": false
    }, {
      "name": "Specimen",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "StructureDefinition:resource"
      } ],
      "reference": {
        "reference": "StructureDefinition/specimen"
      },
      "groupingId": "general",
      "description": "Constraints on Specimen for use with clinical genomics reporting",
      "exampleBoolean": true
    }, {
      "name": "Genomics Report",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "StructureDefinition:resource"
      } ],
      "reference": {
        "reference": "StructureDefinition/genomics-report"
      },
      "groupingId": "general",
      "description": "Defines the overall genomic report",
      "exampleBoolean": false
    }, {
      "name": "Region Studied",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "StructureDefinition:resource"
      } ],
      "reference": {
        "reference": "StructureDefinition/region-studied"
      },
      "groupingId": "general",
      "description": "Provides a description of the region studied.",
      "exampleBoolean": false
    }, {
      "name": "Grouper",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "StructureDefinition:resource"
      } ],
      "reference": {
        "reference": "StructureDefinition/grouper"
      },
      "groupingId": "general",
      "description": "Organizes information within a genomic report",
      "exampleBoolean": false
    }, {
      "name": "Overall Interpretation",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "StructureDefinition:resource"
      } ],
      "reference": {
        "reference": "StructureDefinition/overall-interpretation"
      },
      "groupingId": "general",
      "description": "Provides a coarse overall interpretation of the genomic results reported.",
      "exampleBoolean": false
    }, {
      "name": "Haplotype",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "StructureDefinition:resource"
      } ],
      "reference": {
        "reference": "StructureDefinition/haplotype"
      },
      "groupingId": "general",
      "description": "Assertion of a particular haplotype on the basis of one or more variants",
      "exampleBoolean": false
    }, {
      "name": "Genotype",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "StructureDefinition:resource"
      } ],
      "reference": {
        "reference": "StructureDefinition/genotype"
      },
      "groupingId": "general",
      "description": "Assertion of a particular genotype on the basis of one or more variants or haplotypes",
      "exampleBoolean": false
    }, {
      "name": "Variant",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "StructureDefinition:resource"
      } ],
      "reference": {
        "reference": "StructureDefinition/variant"
      },
      "groupingId": "general",
      "description": "Details about a set of changes in the tested sample compared to a reference sequence.",
      "exampleBoolean": false
    }, {
      "name": "Sequence Phase Relationship",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "StructureDefinition:resource"
      } ],
      "reference": {
        "reference": "StructureDefinition/sequence-phase-relationship"
      },
      "groupingId": "general",
      "description": "Indicates whether two entities are in Cis (same strand) or Trans (opposite strand) relationship to each other",
      "exampleBoolean": false
    }, {
      "name": "Tumor mutation burden",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "StructureDefinition:resource"
      } ],
      "reference": {
        "reference": "StructureDefinition/tmb"
      },
      "groupingId": "general",
      "description": "Tumor mutational burden (TMB), also known as mutation load.",
      "exampleBoolean": false
    }, {
      "name": "Microsatellite instability",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "StructureDefinition:resource"
      } ],
      "reference": {
        "reference": "StructureDefinition/msi"
      },
      "groupingId": "general",
      "description": "Microsatellite instability (MSI) is the condition of genetic hypermutability (predisposition to mutation) that results from impaired DNA mismatch repair (MMR).",
      "exampleBoolean": false
    }, {
      "name": "Diagnostic Implication",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "StructureDefinition:resource"
      } ],
      "reference": {
        "reference": "StructureDefinition/diagnostic-implication"
      },
      "groupingId": "implications",
      "description": "Profile with properties for observations that convey the potential impact of genomic characteristics on a diagnosis",
      "exampleBoolean": false
    }, {
      "name": "Therapeutic Implication",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "StructureDefinition:resource"
      } ],
      "reference": {
        "reference": "StructureDefinition/therapeutic-implication"
      },
      "groupingId": "implications",
      "description": "Profile with properties for observations that convey the potential impact of genomic characteristics on a medication or non-medicinal therapy.",
      "exampleBoolean": false
    }, {
      "name": "Medication Usage Task",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "StructureDefinition:resource"
      } ],
      "reference": {
        "reference": "StructureDefinition/task-med-chg"
      },
      "groupingId": "implications",
      "description": "Task describing what sort of change (if any) should be made in a patient's medication based on an identified finding",
      "exampleBoolean": false
    }, {
      "name": "Recommended Followup",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "StructureDefinition:resource"
      } ],
      "reference": {
        "reference": "StructureDefinition/task-rec-followup"
      },
      "groupingId": "implications",
      "description": "Task describing the followup that is recommended",
      "exampleBoolean": false
    }, {
      "name": "Genomics Base",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "StructureDefinition:resource:abstract"
      } ],
      "reference": {
        "reference": "StructureDefinition/genomics-base"
      },
      "groupingId": "abstract",
      "description": "Base profile that defines characteristics shared by all genetic observations.",
      "exampleBoolean": false
    }, {
      "name": "Genomic Finding",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "StructureDefinition:resource"
      } ],
      "reference": {
        "reference": "StructureDefinition/finding"
      },
      "groupingId": "abstract",
      "description": "Properties common to genomic findings whose results are expressed as computable discrete elements (e.g. genotypes, haplotypes, variants, etc.)",
      "exampleBoolean": false
    }, {
      "name": "Genomic Implication",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "StructureDefinition:resource"
      } ],
      "reference": {
        "reference": "StructureDefinition/implication"
      },
      "groupingId": "abstract",
      "description": "Abstract profile for observations linking a genomic finding to an external knowledgebase.",
      "exampleBoolean": false
    }, {
      "name": "Related Artifact",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "StructureDefinition:extension"
      } ],
      "reference": {
        "reference": "StructureDefinition/CGRelatedArtifact"
      },
      "groupingId": "extensions",
      "description": "Captures citations, evidence and other supporting documentation for the observation or report",
      "exampleBoolean": false
    }, {
      "name": "Recommended Action",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "StructureDefinition:extension"
      } ],
      "reference": {
        "reference": "StructureDefinition/RecommendedAction"
      },
      "groupingId": "extensions",
      "description": "References a proposed action that is recommended based on the results of the report or observations",
      "exampleBoolean": false
    }, {
      "name": "Supporting Information",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "StructureDefinition:extension"
      } ],
      "reference": {
        "reference": "StructureDefinition/SupportingInfo"
      },
      "groupingId": "extensions",
      "description": "Additional information relevant to interpreting/understanding the report",
      "exampleBoolean": false
    }, {
      "name": "Example Org",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Organization"
      } ],
      "reference": {
        "reference": "Organization/ExampleOrg"
      },
      "groupingId": "examples",
      "description": "Example Org"
    }, {
      "name": "Example - TherapeuticImplication",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/TherapeuticImplicationExample1"
      },
      "groupingId": "examples",
      "description": "Test instance of TherapeuticImplication",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication"
    }, {
      "name": "Example - Genotype",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/GenotypeExample1"
      },
      "groupingId": "examples",
      "description": "Test instance of Genotype",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"
    }, {
      "name": "Example - TaskMedChg",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Task"
      } ],
      "reference": {
        "reference": "Task/TaskMedChgExample1"
      },
      "groupingId": "examples",
      "description": "Test instance of TaskMedChg",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/task-med-chg"
    }, {
      "name": "Example - GenomicsReport",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "DiagnosticReport"
      } ],
      "reference": {
        "reference": "DiagnosticReport/GenomicsReportExample01"
      },
      "groupingId": "examples",
      "description": "Test instance of GenomicsReport",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-report"
    }, {
      "name": "Example - Sequence Phase Relation",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/SequencePhaseRelationExample1"
      },
      "groupingId": "examples",
      "description": "Test instance of Sequence Phase Relationship",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/sequence-phase-relationship"
    }, {
      "name": "Example - Overall Interpretation",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/OverallInterpExample1"
      },
      "groupingId": "examples",
      "description": "Test instance of Overall Interpretation",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/overall-interpretation"
    }, {
      "name": "Example - TMB",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/TumorMutationBurdenExample01"
      },
      "groupingId": "examples",
      "description": "Test instance of TMB",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/tmb"
    }, {
      "name": "Example - MSI",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/MicrosatelliteInstabilityExample01"
      },
      "groupingId": "examples",
      "description": "Test instance of MSI",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/msi"
    }, {
      "name": "Example - Service Request",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "ServiceRequest"
      } ],
      "reference": {
        "reference": "ServiceRequest/GenomicsServiceRequestExample01"
      },
      "groupingId": "examples",
      "description": "Test instance of Service Request",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/servicerequest"
    }, {
      "name": "Example - Variant1",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/VariantExample1"
      },
      "groupingId": "examples",
      "description": "Test instance of Variant given by Clinvar ID",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
    }, {
      "name": "Example - Variant2",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/VariantExample2"
      },
      "groupingId": "examples",
      "description": "Test instance of Variant given by VCF columns",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
    }, {
      "name": "Example - Patient",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Patient"
      } ],
      "reference": {
        "reference": "Patient/CGPatientExample01"
      },
      "groupingId": "examples",
      "description": "Test instance a patient"
    }, {
      "name": "Example - Specimen",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Specimen"
      } ],
      "reference": {
        "reference": "Specimen/GenomicSpecimenExample01"
      },
      "groupingId": "examples",
      "description": "Test instance a specimen",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/specimen"
    }, {
      "name": "Example - Observation PGx Genotype 1",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/Pgx-geno-1001"
      },
      "groupingId": "examples",
      "description": "Test instance of PGx Genotype given by star allele",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"
    }, {
      "name": "Example - Observation PGx Genotype 2",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/Pgx-geno-1002"
      },
      "groupingId": "examples",
      "description": "Test instance of PGx Genotype given by star allele",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"
    }, {
      "name": "Example - Observation PGx Genotype 3",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/Pgx-geno-1003"
      },
      "groupingId": "examples",
      "description": "Test instance of PGx Genotype given by rs ID and allele",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"
    }, {
      "name": "Example - Observation PGx interpretation",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/OverallInterpExample2"
      },
      "groupingId": "examples",
      "description": "Test instance of PGx overall report interpretation",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/overall-interpretation"
    }, {
      "name": "Example - Observation-GrouperEx01",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/GrouperEx01"
      },
      "groupingId": "examples",
      "description": "Test instance of PGx Observation grouper consisting of Implications from the lab",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/grouper"
    }, {
      "name": "Example - Observation-GrouperEx02",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/GrouperEx02"
      },
      "groupingId": "examples",
      "description": "Test instance of PGx Observation grouper consisting of genotypes from the lab",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/grouper"
    }, {
      "name": "Example - Observation-GrouperEx03",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/GrouperEx03"
      },
      "groupingId": "examples",
      "description": "Test instance of PGx Observation grouper consisting of variants and regions studied from the lab",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/grouper"
    }, {
      "name": "Example - DiagnosticReport-PGxGenomicsReportEMERGE",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "DiagnosticReport"
      } ],
      "reference": {
        "reference": "DiagnosticReport/PGxGenomicsReportEMERGE"
      },
      "groupingId": "examples",
      "description": "Test instance of PGx Diagnostic report based on eMERGE panel",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-report"
    }, {
      "name": "Example - Observation-Pgx-var-1011",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/Pgx-var-1011"
      },
      "groupingId": "examples",
      "description": "Test instance of PGx variant defined by VCF column data",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
    }, {
      "name": "Example - Observation-Pgx-var-1012",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/Pgx-var-1012"
      },
      "groupingId": "examples",
      "description": "Test instance of PGx variant defined by VCF column data",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
    }, {
      "name": "Example - Observation-Pgx-var-1013",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/Pgx-var-1013"
      },
      "groupingId": "examples",
      "description": "Test instance of PGx variant defined by VCF column data",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
    }, {
      "name": "Example - Observation-Pgx-var-1014",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/Pgx-var-1014"
      },
      "groupingId": "examples",
      "description": "Test instance of PGx variant defined by VCF column data",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
    }, {
      "name": "Example - Observation-Pgx-var-1015",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/Pgx-var-1015"
      },
      "groupingId": "examples",
      "description": "Test instance of PGx variant defined by HGVS nomenclature",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
    }, {
      "name": "Example - Observation-Pgx-var-1016",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/Pgx-var-1016"
      },
      "groupingId": "examples",
      "description": "Test instance of PGx variant defined by VCF column data",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
    }, {
      "name": "Example - Observation-Pgx-var-1017",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/Pgx-var-1017"
      },
      "groupingId": "examples",
      "description": "Test instance of PGx variant defined by VCF column data",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
    }, {
      "name": "Example - Observation-Pgx-var-1018",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/Pgx-var-1018"
      },
      "groupingId": "examples",
      "description": "Test instance of PGx variant defined by VCF column data",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
    }, {
      "name": "Example - Observation-Pgx-var-1019",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/Pgx-var-1019"
      },
      "groupingId": "examples",
      "description": "Test instance of PGx variant defined by HGVS nomenclature",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
    }, {
      "name": "Example - Observation-Pgx-var-1020",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/Pgx-var-1020"
      },
      "groupingId": "examples",
      "description": "Test instance of PGx variant defined by VCF column data",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
    }, {
      "name": "Example - Observation-Pgx-var-1021",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/Pgx-var-1021"
      },
      "groupingId": "examples",
      "description": "Test instance of PGx variant defined by VCF column data",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
    }, {
      "name": "Example - Observation-RegionStudiedPGx1",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/RegionStudiedPGx1"
      },
      "groupingId": "examples",
      "description": "Test instance of region studied report for one gene",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/region-studied"
    }, {
      "name": "Example - Observation-RegionStudiedPGx2",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/RegionStudiedPGx2"
      },
      "groupingId": "examples",
      "description": "Test instance of region studied report for one gene",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/region-studied"
    }, {
      "name": "Example - Observation-RegionStudiedPGx3",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/RegionStudiedPGx3"
      },
      "groupingId": "examples",
      "description": "Test instance of region studied report for one gene",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/region-studied"
    }, {
      "name": "Example - Observation-TxImp01",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/TxImp01"
      },
      "groupingId": "examples",
      "description": "Test instance of observation stating therapeutic implication from guideline",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication"
    }, {
      "name": "Example - Observation-TxImp02",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/TxImp02"
      },
      "groupingId": "examples",
      "description": "Test instance of observation stating therapeutic implication from guideline",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication"
    }, {
      "name": "Example - Observation-TxImp03",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/TxImp03"
      },
      "groupingId": "examples",
      "description": "Test instance of observation stating therapeutic implication from guideline",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication"
    }, {
      "name": "Example - Observation-TxImp04",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/TxImp04"
      },
      "groupingId": "examples",
      "description": "Test instance of observation stating therapeutic implication from guideline",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication"
    }, {
      "name": "Example - Observation-TxImp05",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/TxImp05"
      },
      "groupingId": "examples",
      "description": "Test instance of observation stating therapeutic implication from guideline",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication"
    }, {
      "name": "Example - Observation-TxImp06",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/TxImp06"
      },
      "groupingId": "examples",
      "description": "Test instance of observation stating therapeutic implication from guideline",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication"
    }, {
      "name": "Example - ServiceRequest-eMERGEServiceRequest",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "ServiceRequest"
      } ],
      "reference": {
        "reference": "ServiceRequest/eMERGEServiceRequest"
      },
      "groupingId": "examples",
      "description": "Test instance of service request for PGx test",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/servicerequest"
    }, {
      "name": "Example - Genomics Reporting",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Bundle"
      } ],
      "reference": {
        "reference": "Bundle/diagnosticreport-cgexample"
      },
      "groupingId": "examples",
      "description": "Test instance showing data from the CG v2 spec",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/overall-interpretation"
    }, {
      "name": "Example - Complex Variant (HGVS)",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Bundle"
      } ],
      "reference": {
        "reference": "Bundle/compound-heterozygote"
      },
      "groupingId": "examples",
      "description": "Compound Heterozygote Variant Example",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
    }, {
      "name": "Example - Complex Variant (unpacked)",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Bundle"
      } ],
      "reference": {
        "reference": "Bundle/complexVariant-nonHGVS"
      },
      "groupingId": "examples",
      "description": "Compound Heterozygote Variant example, using position, reference, and alternate allele instead of HGVS.",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
    }, {
      "name": "Example - NGS",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/SNVexample"
      },
      "groupingId": "examples",
      "description": "SNV example",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
    }, {
      "name": "Example - ACMG Screening result",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/AnnotationExample"
      },
      "groupingId": "examples",
      "description": "ACMG annotation",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"
    }, {
      "name": "Example - Inherited Disease Pathogenicity",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/obs-idh-ex"
      },
      "groupingId": "examples",
      "description": "Inherited Disease Pathogenicity",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"
    }, {
      "name": "Example - Pharmacogenomics",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Bundle"
      } ],
      "reference": {
        "reference": "Bundle/diagnosticreport-pgxexample"
      },
      "groupingId": "examples",
      "description": "Pharmacogenomic Report Example instances",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/servicerequest"
    }, {
      "name": "Example - CYP2C19 report from 1000 Genomes",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "DiagnosticReport"
      } ],
      "reference": {
        "reference": "DiagnosticReport/report-CYP2C19"
      },
      "groupingId": "examples",
      "description": "CYP2C19 report from 1000 Genomes",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-report"
    }, {
      "name": "Example - subset of CYP2C19 report from 1000 Genomes showing phase",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "DiagnosticReport"
      } ],
      "reference": {
        "reference": "DiagnosticReport/sequence-phase-relation-CYP2C19"
      },
      "groupingId": "examples",
      "description": "Phase relation on CYP2C19 report",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-report"
    }, {
      "name": "Example - Full Bundle HLA genotyping for HLA-A, HLA-B, and HLA-C, using GLStrings",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Bundle"
      } ],
      "reference": {
        "reference": "Bundle/CG-IG-HLA-FullBundle-01"
      },
      "groupingId": "examples",
      "description": "Full Bundle HLA Typing Example",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/servicerequest"
    }, {
      "name": "Example - HLA genotyping for HLA-A, HLA-B, and HLA-C, using GLStrings",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "DiagnosticReport"
      } ],
      "reference": {
        "reference": "DiagnosticReport/diagnosticreport-hla-glstring-r4"
      },
      "groupingId": "examples",
      "description": "DiagnosticReport HLA Typing Example",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-report"
    }, {
      "name": "Example - HLA genotyping for HLA-A, using GLStrings",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/genotype-hla-a-glstring-r4"
      },
      "groupingId": "examples",
      "description": "HLA-A genoyping Example: HLA-A*03:01:01:01+HLA-A*30:01:01",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"
    }, {
      "name": "Example - Observation for a single HLA-A allele",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Observation"
      } ],
      "reference": {
        "reference": "Observation/haplotype-hla-a-1-r4"
      },
      "groupingId": "examples",
      "description": "HLA-A allele observaation: HLA-A*03:01:01:01",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype"
    }, {
      "name": "Example - Buccal swab for HLA typing",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Specimen"
      } ],
      "reference": {
        "reference": "Specimen/specimen-hla-r4"
      },
      "groupingId": "examples",
      "description": "Specimen example: Buccal swab for HLA typing",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/specimen"
    }, {
      "name": "Example - Service request for high-resolution HLA-A genotyping",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "ServiceRequest"
      } ],
      "reference": {
        "reference": "ServiceRequest/servicerequest-hla-a-r4"
      },
      "groupingId": "examples",
      "description": "ServiceRequest example: High-resolution HLA-A genotyping",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/servicerequest"
    }, {
      "name": "Example - Multiple Oncology Variant Report Example",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Bundle"
      } ],
      "reference": {
        "reference": "Bundle/oncology-report-example"
      },
      "groupingId": "examples",
      "description": "Oncology Example Report with 12 reported variants",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
    }, {
      "name": "Example - Melanoma implication",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Bundle"
      } ],
      "reference": {
        "reference": "Bundle/oncology-diagnostic"
      },
      "groupingId": "examples",
      "description": "Small example report with 1 reported variant and somatic diagnostic implication",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/specimen"
    }, {
      "name": "Example - Full Bundle Oncology Example",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Bundle"
      } ],
      "reference": {
        "reference": "Bundle/oncologyexamples-r4"
      },
      "groupingId": "examples",
      "description": "Full Bundle Oncology Example",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/grouper"
    }, {
      "name": "TBD Code System",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "CodeSystem"
      } ],
      "reference": {
        "reference": "CodeSystem/TbdCodes"
      },
      "groupingId": "codesystems",
      "description": "Code System for codes yet to be defined in LOINC"
    }, {
      "name": "Sequence Phase Relationship",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "CodeSystem"
      } ],
      "reference": {
        "reference": "CodeSystem/SequencePhaseRelationshipCS"
      },
      "groupingId": "codesystems",
      "description": "Code System for specific types of relationships"
    }, {
      "name": "High/Low codes",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "ValueSet"
      } ],
      "reference": {
        "reference": "ValueSet/high-low-codes"
      },
      "groupingId": "valuesets",
      "description": "High/Low codes for Observation.interpretation"
    }, {
      "name": "HGVS Value Set",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "ValueSet"
      } ],
      "reference": {
        "reference": "ValueSet/hgvs"
      },
      "groupingId": "valuesets",
      "description": "Value Set for HGVS"
    }, {
      "name": "HGNC Value Set",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "ValueSet"
      } ],
      "reference": {
        "reference": "ValueSet/hgnc"
      },
      "groupingId": "valuesets",
      "description": "Value Set for HGNC (genes and gene groups)"
    }, {
      "name": "TBD Value Set",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "ValueSet"
      } ],
      "reference": {
        "reference": "ValueSet/tbd"
      },
      "groupingId": "valuesets",
      "description": "Value Set for codes yet to be defined in LOINC"
    }, {
      "name": "DNA Change Type",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "ValueSet"
      } ],
      "reference": {
        "reference": "ValueSet/dna-change-type"
      },
      "groupingId": "valuesets",
      "description": "DNA change type for variants"
    }, {
      "name": "Molecular Consequence",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "ValueSet"
      } ],
      "reference": {
        "reference": "ValueSet/molecular-consequence"
      },
      "groupingId": "valuesets",
      "description": "Changes in structural features of a sequence due to the observed variant."
    }, {
      "name": "Sequence Phase Relationship",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "ValueSet"
      } ],
      "reference": {
        "reference": "ValueSet/seq-phase-relationship"
      },
      "groupingId": "valuesets",
      "description": "Value Set for specific types of relationships"
    }, {
      "name": "Variant Inheritance",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "ValueSet"
      } ],
      "reference": {
        "reference": "ValueSet/variant-inheritance"
      },
      "groupingId": "valuesets",
      "description": "origins of variants"
    }, {
      "name": "Concept mapping for DNA Change Type",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "ConceptMap"
      } ],
      "reference": {
        "reference": "ConceptMap/dna-change-type-map"
      },
      "groupingId": "conceptmaps",
      "description": "Mapping LOINC answers to SequenceOntology"
    }, {
      "name": "Operation: $find-subject-variants",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "OperationDefinition"
      } ],
      "reference": {
        "reference": "OperationDefinition/find-subject-variants"
      },
      "groupingId": "operations",
      "description": "Retrieves variants from a specified genomic region",
      "exampleBoolean": false
    }, {
      "name": "Condition Inheritance Pattern",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "CodeSystem"
      } ],
      "reference": {
        "reference": "CodeSystem/ConditionInheritanceMode"
      },
      "description": "A set of terms that describe the transmission pattern of a condition in a pedigree."
    }, {
      "name": "Risk Assessment Reference",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "StructureDefinition:extension"
      } ],
      "reference": {
        "reference": "StructureDefinition/diagnosticReport-risk"
      },
      "description": "Extension reference to RiskAssessment resource"
    }, {
      "name": "Example Task - PGxRecEx01",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Task"
      } ],
      "reference": {
        "reference": "Task/PGxRecEx01"
      },
      "description": "For clopidogrel, individuals with this diplotype are expected to have significantly reduced platelet inhibition, increased residual platelet aggregation and increased risk for adverse cardiovascular events in response to clopidogrel. Alternative antiplatelet therapy (if no contraindication) is recommended. Refer to current guidelines for dosage and recommendations at https://cpicpgx.org/guidelines/guideline- for-clopidogrel-and-cyp2c19/",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/task-rec-followup"
    }, {
      "name": "Example Task - PGxRecEx02",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Task"
      } ],
      "reference": {
        "reference": "Task/PGxRecEx02"
      },
      "description": "voriconazole - An alternative agent that is not dependent on CYP2C19 metabolism such as isavuconazole, liposomal amphotericin B, or posaconazole is recommended as primary therapy in lieu of voriconazole. A lower than standard dosage of voriconazole with careful therapeutic drug monitoring is another alternative. Refer to current guidelines for dosage and recommendations at https://cpicpgx.org/guidelines/guideline-for-voriconazole-and-cyp2c19/.",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/task-rec-followup"
    }, {
      "name": "Example Task - PGxRecEx03",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Task"
      } ],
      "reference": {
        "reference": "Task/PGxRecEx03"
      },
      "description": "For citalopram, a 50% reduction in starting dose is recommended with therapeutic drug monitoring to guide dose adjustment or select an alternate drug not predominantly metabolized by CYP2C19. Refer to current guidelines for dosage and recommendations at https://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/. If CYP2D6 genotyping is available, refer to the current guidelines for dosing recommendations.",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/task-rec-followup"
    }, {
      "name": "Example Task - PGxRecEx04",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Task"
      } ],
      "reference": {
        "reference": "Task/PGxRecEx04"
      },
      "description": "For escitalopram, a 50% reduction in starting dose is recommended with therapeutic drug monitoring to guide dose adjustment or select an alternate drug not predominantly metabolized by CYP2C19. Refer to current guidelines for dosage and recommendations at https://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/. If CYP2D6 genotyping is available, refer to the current guidelines for dosing recommendations.",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/task-rec-followup"
    }, {
      "name": "Example Task - PGxRecEx05",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "Task"
      } ],
      "reference": {
        "reference": "Task/PGxRecEx05"
      },
      "description": "For amitriptyline, a 50% reduction in starting dose is recommended with therapeutic drug monitoring to guide dose adjustment. Refer to current guidelines for dosage and recommendations at https://cpicpgx.org/guidelines/guideline-for- tricyclic-antidepressants-and-cyp2d6-and-cyp2c19/. If CYP2D6 genotyping is available, refer to the current guidelines for dosing recommendations.",
      "exampleCanonical": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/task-rec-followup"
    }, {
      "name": "Condition Inheritance Pattern",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "ValueSet"
      } ],
      "reference": {
        "reference": "ValueSet/condition-inheritance-vs"
      },
      "description": "Value Set for specific ttransmission patterns of a condition in a pedigree"
    }, {
      "name": "Functional Effect",
      "extension": [ {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
        "valueString": "ValueSet"
      } ],
      "reference": {
        "reference": "ValueSet/functional-effect"
      },
      "description": "The effect of a variant on downstream biological products or pathways."
    } ],
    "extension": [ {
      "url": "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter",
      "extension": [ {
        "url": "code",
        "valueString": "copyrightyear"
      }, {
        "url": "value",
        "valueString": "2019+"
      } ]
    }, {
      "url": "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter",
      "extension": [ {
        "url": "code",
        "valueString": "releaselabel"
      }, {
        "url": "value",
        "valueString": "Ballot"
      } ]
    }, {
      "url": "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter",
      "extension": [ {
        "url": "code",
        "valueString": "path-binary"
      }, {
        "url": "value",
        "valueString": "input\\cql"
      } ]
    }, {
      "url": "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter",
      "extension": [ {
        "url": "code",
        "valueString": "path-liquid"
      }, {
        "url": "value",
        "valueString": "templates\\liquid"
      } ]
    }, {
      "url": "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter",
      "extension": [ {
        "url": "code",
        "valueString": "autoload-resources"
      }, {
        "url": "value",
        "valueString": "true"
      } ]
    }, {
      "url": "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter",
      "extension": [ {
        "url": "code",
        "valueString": "path-liquid"
      }, {
        "url": "value",
        "valueString": "template/liquid"
      } ]
    }, {
      "url": "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter",
      "extension": [ {
        "url": "code",
        "valueString": "path-liquid"
      }, {
        "url": "value",
        "valueString": "input/liquid"
      } ]
    }, {
      "url": "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter",
      "extension": [ {
        "url": "code",
        "valueString": "path-qa"
      }, {
        "url": "value",
        "valueString": "temp/qa"
      } ]
    }, {
      "url": "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter",
      "extension": [ {
        "url": "code",
        "valueString": "path-temp"
      }, {
        "url": "value",
        "valueString": "temp/pages"
      } ]
    }, {
      "url": "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter",
      "extension": [ {
        "url": "code",
        "valueString": "path-output"
      }, {
        "url": "value",
        "valueString": "output"
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    }, {
      "url": "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter",
      "extension": [ {
        "url": "code",
        "valueString": "path-suppressed-warnings"
      }, {
        "url": "value",
        "valueString": "input/ignoreWarnings.txt"
      } ]
    }, {
      "url": "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter",
      "extension": [ {
        "url": "code",
        "valueString": "path-history"
      }, {
        "url": "value",
        "valueString": "http://hl7.org/fhir/uv/genomics-reporting/history.html"
      } ]
    }, {
      "url": "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter",
      "extension": [ {
        "url": "code",
        "valueString": "template-html"
      }, {
        "url": "value",
        "valueString": "template-page.html"
      } ]
    }, {
      "url": "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter",
      "extension": [ {
        "url": "code",
        "valueString": "template-md"
      }, {
        "url": "value",
        "valueString": "template-page-md.html"
      } ]
    }, {
      "url": "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter",
      "extension": [ {
        "url": "code",
        "valueString": "apply-contact"
      }, {
        "url": "value",
        "valueString": "true"
      } ]
    }, {
      "url": "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter",
      "extension": [ {
        "url": "code",
        "valueString": "apply-context"
      }, {
        "url": "value",
        "valueString": "true"
      } ]
    }, {
      "url": "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter",
      "extension": [ {
        "url": "code",
        "valueString": "apply-copyright"
      }, {
        "url": "value",
        "valueString": "true"
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    }, {
      "url": "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter",
      "extension": [ {
        "url": "code",
        "valueString": "apply-jurisdiction"
      }, {
        "url": "value",
        "valueString": "true"
      } ]
    }, {
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      "extension": [ {
        "url": "code",
        "valueString": "apply-license"
      }, {
        "url": "value",
        "valueString": "true"
      } ]
    }, {
      "url": "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter",
      "extension": [ {
        "url": "code",
        "valueString": "apply-publisher"
      }, {
        "url": "value",
        "valueString": "true"
      } ]
    }, {
      "url": "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter",
      "extension": [ {
        "url": "code",
        "valueString": "apply-version"
      }, {
        "url": "value",
        "valueString": "true"
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    }, {
      "url": "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter",
      "extension": [ {
        "url": "code",
        "valueString": "active-tables"
      }, {
        "url": "value",
        "valueString": "true"
      } ]
    } ],
    "parameter": [ {
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      "value": "input\\history"
    }, {
      "code": "path-resource",
      "value": "input/capabilities"
    }, {
      "code": "path-resource",
      "value": "input/examples"
    }, {
      "code": "path-resource",
      "value": "input/extensions"
    }, {
      "code": "path-resource",
      "value": "input/models"
    }, {
      "code": "path-resource",
      "value": "input/operations"
    }, {
      "code": "path-resource",
      "value": "input/profiles"
    }, {
      "code": "path-resource",
      "value": "input/resources"
    }, {
      "code": "path-resource",
      "value": "input/vocabulary"
    }, {
      "code": "path-resource",
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    }, {
      "code": "path-resource",
      "value": "input/history"
    }, {
      "code": "path-resource",
      "value": "fsh-generated/resources"
    }, {
      "code": "path-pages",
      "value": "template/config"
    }, {
      "code": "path-pages",
      "value": "input/images"
    }, {
      "code": "path-tx-cache",
      "value": "input-cache/txcache"
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  },
  "date": "2021-04-13T19:13:37+00:00",
  "publisher": "HL7 International Clinical Genomics Work Group",
  "fhirVersion": [ "4.0.1" ],
  "license": "CC0-1.0",
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      "system": "http://unstats.un.org/unsd/methods/m49/m49.htm"
    } ]
  } ],
  "name": "GenomicsReporting",
  "type": null,
  "experimental": "false",
  "resourceType": "ImplementationGuide",
  "title": "Genomics Reporting Implementation Guide",
  "package_version": "1.1.0",
  "status": "draft",
  "id": "18f986ce-4ec8-499c-aca8-a205d315f4d1",
  "kind": null,
  "url": "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/hl7.fhir.uv.genomics-reporting",
  "version": "1.1.0",
  "packageId": "hl7.fhir.uv.genomics-reporting",
  "contact": [ {
    "telecom": [ {
      "value": "http://www.hl7.org/Special/committees/clingenomics",
      "system": "url"
    } ]
  } ]
}