# Genomic Study Analysis - Genomics Reporting Implementation Guide v4.0.0-cibuild

* [**Table of Contents**](toc.md)
* [**Artifact List**](artifacts.md)
* **Genomic Study Analysis**

## Resource Profile: Genomic Study Analysis 

| | | |
| :--- | :--- | :--- |
| *Official URL*:http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis | *Version*:4.0.0-cibuild | |
| *Standards status:*[Trial-use](http://hl7.org/fhir/R4/versions.html#std-process) | [Maturity Level](http://hl7.org/fhir/versions.html#maturity): 2 | *Computable Name*:GenomicStudyAnalysis |

 
A genomic study analysis is a component of a genomic study. 

> **STU Note:**This profile is only to be used as referenced by a genomic study instance. A Genomic Study Analysis makes no sense outside the context of a Genomic Study). Please refer to the[Genomic Study](StructureDefinition-genomic-study.md)profile for a description of genomic study and genomic study analysis."

**Usages:**

* Refer to this Profile: [Genomic Study Analysis Extension](StructureDefinition-genomic-study-analysis-ext.md)
* Examples for this Profile: [Procedure/PGXGenomicStudyAnalysis](Procedure-PGXGenomicStudyAnalysis.md), [Procedure/analysisTumorNormalDNA](Procedure-analysisTumorNormalDNA.md), [Procedure/analysisTumorRNA](Procedure-analysisTumorRNA.md), [Procedure/genomicstudyanalysis-trio2](Procedure-genomicstudyanalysis-trio2.md)...Show 2 more,[Procedure/lungMass-analysis1](Procedure-lungMass-analysis1.md)and[Procedure/lungMass-analysis2](Procedure-lungMass-analysis2.md)

You can also check for [usages in the FHIR IG Statistics](https://packages2.fhir.org/xig/hl7.fhir.uv.genomics-reporting|current/StructureDefinition/genomic-study-analysis)

### Formal Views of Profile Content

 [Description of Profiles, Differentials, Snapshots and how the different presentations work](http://build.fhir.org/ig/FHIR/ig-guidance/readingIgs.html#structure-definitions). 

 

Other representations of profile: [CSV](StructureDefinition-genomic-study-analysis.csv), [Excel](StructureDefinition-genomic-study-analysis.xlsx), [Schematron](StructureDefinition-genomic-study-analysis.sch) 



## Resource Content

```json
{
  "resourceType" : "StructureDefinition",
  "id" : "genomic-study-analysis",
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode" : "cg"
    },
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
      "valueInteger" : 2,
      "_valueInteger" : {
        "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/StructureDefinition/structuredefinition-standards-status",
      "valueCode" : "trial-use",
      "_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/StructureDefinition/genomic-study-analysis",
  "version" : "4.0.0-cibuild",
  "name" : "GenomicStudyAnalysis",
  "title" : "Genomic Study Analysis",
  "status" : "active",
  "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" : "A genomic study analysis is a component of a genomic study.",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code" : "001",
          "display" : "World"
        }
      ]
    }
  ],
  "fhirVersion" : "4.0.1",
  "mapping" : [
    {
      "identity" : "workflow",
      "uri" : "http://hl7.org/fhir/workflow",
      "name" : "Workflow Pattern"
    },
    {
      "identity" : "rim",
      "uri" : "http://hl7.org/v3",
      "name" : "RIM Mapping"
    },
    {
      "identity" : "w5",
      "uri" : "http://hl7.org/fhir/fivews",
      "name" : "FiveWs Pattern Mapping"
    },
    {
      "identity" : "v2",
      "uri" : "http://hl7.org/v2",
      "name" : "HL7 v2 Mapping"
    }
  ],
  "kind" : "resource",
  "abstract" : false,
  "type" : "Procedure",
  "baseDefinition" : "http://hl7.org/fhir/StructureDefinition/Procedure",
  "derivation" : "constraint",
  "differential" : {
    "element" : [
      {
        "id" : "Procedure",
        "path" : "Procedure"
      },
      {
        "id" : "Procedure.extension",
        "path" : "Procedure.extension",
        "slicing" : {
          "discriminator" : [
            {
              "type" : "value",
              "path" : "url"
            }
          ],
          "ordered" : false,
          "rules" : "open"
        }
      },
      {
        "id" : "Procedure.extension:method-type",
        "path" : "Procedure.extension",
        "sliceName" : "method-type",
        "short" : "GenomicStudy.analysis.methodType",
        "min" : 0,
        "max" : "*",
        "type" : [
          {
            "code" : "Extension",
            "profile" : [
              "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type"
            ]
          }
        ]
      },
      {
        "id" : "Procedure.extension:change-type",
        "path" : "Procedure.extension",
        "sliceName" : "change-type",
        "short" : "GenomicStudy.analysis.changeType",
        "min" : 0,
        "max" : "*",
        "type" : [
          {
            "code" : "Extension",
            "profile" : [
              "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-change-type"
            ]
          }
        ]
      },
      {
        "id" : "Procedure.extension:genome-build",
        "path" : "Procedure.extension",
        "sliceName" : "genome-build",
        "short" : "GenomicStudy.analysis.genomeBuild",
        "min" : 0,
        "max" : "1",
        "type" : [
          {
            "code" : "Extension",
            "profile" : [
              "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build"
            ]
          }
        ]
      },
      {
        "id" : "Procedure.extension:genomic-source-class",
        "path" : "Procedure.extension",
        "sliceName" : "genomic-source-class",
        "short" : "GenomicStudy.analysis.genomicSourceClass",
        "min" : 0,
        "max" : "1",
        "type" : [
          {
            "code" : "Extension",
            "profile" : [
              "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class"
            ]
          }
        ]
      },
      {
        "id" : "Procedure.extension:title",
        "path" : "Procedure.extension",
        "sliceName" : "title",
        "short" : "GenomicStudy.analysis.title",
        "min" : 0,
        "max" : "1",
        "type" : [
          {
            "code" : "Extension",
            "profile" : [
              "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-title"
            ]
          }
        ]
      },
      {
        "id" : "Procedure.extension:focus",
        "path" : "Procedure.extension",
        "sliceName" : "focus",
        "short" : "GenomicStudy.analysis.focus",
        "min" : 0,
        "max" : "*",
        "type" : [
          {
            "code" : "Extension",
            "profile" : [
              "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-focus"
            ]
          }
        ]
      },
      {
        "id" : "Procedure.extension:specimen",
        "path" : "Procedure.extension",
        "sliceName" : "specimen",
        "short" : "GenomicStudy.analysis.specimen",
        "min" : 0,
        "max" : "*",
        "type" : [
          {
            "code" : "Extension",
            "profile" : [
              "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen"
            ]
          }
        ]
      },
      {
        "id" : "Procedure.extension:metrics",
        "path" : "Procedure.extension",
        "sliceName" : "metrics",
        "short" : "Genomic Study Analysis Metrics",
        "min" : 0,
        "max" : "1",
        "type" : [
          {
            "code" : "Extension",
            "profile" : [
              "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-metrics"
            ]
          }
        ]
      },
      {
        "id" : "Procedure.extension:regions",
        "path" : "Procedure.extension",
        "sliceName" : "regions",
        "short" : "Genomic Study Analysis Regions",
        "min" : 0,
        "max" : "1",
        "type" : [
          {
            "code" : "Extension",
            "profile" : [
              "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions"
            ]
          }
        ]
      },
      {
        "id" : "Procedure.extension:device",
        "path" : "Procedure.extension",
        "sliceName" : "device",
        "short" : "GenomicStudy.analysis.device",
        "min" : 0,
        "max" : "*",
        "type" : [
          {
            "code" : "Extension",
            "profile" : [
              "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device"
            ]
          }
        ]
      },
      {
        "id" : "Procedure.extension:protocol-performed",
        "path" : "Procedure.extension",
        "sliceName" : "protocol-performed",
        "short" : "GenomicStudy.protocolPerformed",
        "min" : 0,
        "max" : "1",
        "type" : [
          {
            "code" : "Extension",
            "profile" : [
              "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-protocol-performed"
            ]
          }
        ]
      },
      {
        "id" : "Procedure.extension:input",
        "path" : "Procedure.extension",
        "sliceName" : "input",
        "short" : "GenomicStudy.analysis.input",
        "min" : 0,
        "max" : "*",
        "type" : [
          {
            "code" : "Extension",
            "profile" : [
              "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-input"
            ]
          }
        ]
      },
      {
        "id" : "Procedure.extension:output",
        "path" : "Procedure.extension",
        "sliceName" : "output",
        "short" : "GenomicStudy.analysis.output",
        "min" : 0,
        "max" : "*",
        "type" : [
          {
            "code" : "Extension",
            "profile" : [
              "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-output"
            ]
          }
        ]
      },
      {
        "id" : "Procedure.identifier",
        "path" : "Procedure.identifier",
        "short" : "GenomicStudy.analysis.identifier"
      },
      {
        "id" : "Procedure.instantiatesCanonical",
        "path" : "Procedure.instantiatesCanonical",
        "short" : "GenomicStudy.analysis.instantiatesCanonical",
        "type" : [
          {
            "code" : "canonical",
            "targetProfile" : [
              "http://hl7.org/fhir/StructureDefinition/PlanDefinition",
              "http://hl7.org/fhir/StructureDefinition/ActivityDefinition"
            ]
          }
        ]
      },
      {
        "id" : "Procedure.instantiatesUri",
        "path" : "Procedure.instantiatesUri",
        "short" : "GenomicStudy.analysis.instantiatesUri"
      },
      {
        "id" : "Procedure.basedOn",
        "path" : "Procedure.basedOn",
        "max" : "0"
      },
      {
        "id" : "Procedure.partOf",
        "path" : "Procedure.partOf",
        "max" : "0"
      },
      {
        "id" : "Procedure.status",
        "path" : "Procedure.status",
        "patternCode" : "completed"
      },
      {
        "id" : "Procedure.statusReason",
        "path" : "Procedure.statusReason",
        "max" : "0"
      },
      {
        "id" : "Procedure.category",
        "path" : "Procedure.category",
        "min" : 1
      },
      {
        "id" : "Procedure.category.coding",
        "path" : "Procedure.category.coding",
        "min" : 1,
        "max" : "1",
        "patternCoding" : {
          "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
          "code" : "laboratory"
        }
      },
      {
        "id" : "Procedure.code",
        "path" : "Procedure.code",
        "max" : "0"
      },
      {
        "id" : "Procedure.encounter",
        "path" : "Procedure.encounter",
        "max" : "0"
      },
      {
        "id" : "Procedure.performed[x]",
        "path" : "Procedure.performed[x]",
        "short" : "GenomicStudy.analysis.date",
        "type" : [
          {
            "code" : "dateTime"
          }
        ]
      },
      {
        "id" : "Procedure.recorder",
        "path" : "Procedure.recorder",
        "max" : "0"
      },
      {
        "id" : "Procedure.asserter",
        "path" : "Procedure.asserter",
        "max" : "0"
      },
      {
        "id" : "Procedure.performer.function",
        "path" : "Procedure.performer.function",
        "short" : "GenomicStudy.analysis.performer.role"
      },
      {
        "id" : "Procedure.performer.actor",
        "path" : "Procedure.performer.actor",
        "short" : "GenomicStudy.analysis.performer.actor",
        "type" : [
          {
            "code" : "Reference",
            "targetProfile" : [
              "http://hl7.org/fhir/StructureDefinition/Practitioner",
              "http://hl7.org/fhir/StructureDefinition/PractitionerRole",
              "http://hl7.org/fhir/StructureDefinition/Organization",
              "http://hl7.org/fhir/StructureDefinition/Device"
            ]
          }
        ]
      },
      {
        "id" : "Procedure.location",
        "path" : "Procedure.location",
        "max" : "0"
      },
      {
        "id" : "Procedure.reasonCode",
        "path" : "Procedure.reasonCode",
        "max" : "0"
      },
      {
        "id" : "Procedure.reasonReference",
        "path" : "Procedure.reasonReference",
        "max" : "0"
      },
      {
        "id" : "Procedure.bodySite",
        "path" : "Procedure.bodySite",
        "max" : "0"
      },
      {
        "id" : "Procedure.outcome",
        "path" : "Procedure.outcome",
        "max" : "0"
      },
      {
        "id" : "Procedure.report",
        "path" : "Procedure.report",
        "max" : "0"
      },
      {
        "id" : "Procedure.complication",
        "path" : "Procedure.complication",
        "max" : "0"
      },
      {
        "id" : "Procedure.complicationDetail",
        "path" : "Procedure.complicationDetail",
        "max" : "0"
      },
      {
        "id" : "Procedure.followUp",
        "path" : "Procedure.followUp",
        "max" : "0"
      },
      {
        "id" : "Procedure.note",
        "path" : "Procedure.note",
        "short" : "GenomicStudy.analysis.note"
      },
      {
        "id" : "Procedure.focalDevice",
        "path" : "Procedure.focalDevice",
        "max" : "0"
      },
      {
        "id" : "Procedure.usedReference",
        "path" : "Procedure.usedReference",
        "max" : "0"
      },
      {
        "id" : "Procedure.usedCode",
        "path" : "Procedure.usedCode",
        "max" : "0"
      }
    ]
  }
}

```
