NHSDigital-FHIR-Genomics-ImplementationGuide/GraphDefinition/GraphDefinition-Genomics-TrioResultGrouping-Example.json at 7f5ca1f55cdeabcef731b6afaf945bcac7aa8434 · NHSDigital/NHSDigital-FHIR-Genomics-ImplementationGuide · GitHub

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{
 "resourceType": "GraphDefinition",
 "id": "GraphDefinition-Genomics-TrioResultGrouping-Example",
 "url": "https://fhir.nhs.uk/GraphDefinition/genomics-trio-result-grouping",
 "name": "GenomicsTrioResultGrouping",
 "version": "0.1.0",
 "status": "draft",
 "date": "2026-01-13",
 "publisher": "NHS England",
 "description": "GraphDefinition for retrieving all DiagnosticReports and related resources for a genomic trio test, starting from a RequestGroup that links the trio.",
 "start": "RequestGroup",
 "link": [
  {
   "path": "RequestGroup.action.resource",
   "description": "Link to ServiceRequests for each member of the trio",
   "min": 1,
   "max": "*",
   "target": [
    {
     "type": "ServiceRequest",
     "link": [
      {
       "description": "DiagnosticReport(s) generated from this ServiceRequest",
       "min": 0,
       "max": "*",
       "target": [
        {
         "type": "DiagnosticReport",
         "params": "basedOn={ref}",
         "link": [
          {
           "path": "DiagnosticReport.extension.valueReference",
           "sliceName": "recommended-action",
           "description": "Further actions recommended by the report",
           "min": 0,
           "max": "*",
           "target": [
            {
             "type": "Task"
            }
           ]
          },
          {
           "path": "DiagnosticReport.extension.valueReference",
           "sliceName": "genomic-study",
           "description": "The set of analyses performed to generate/analyse the genomic data",
           "min": 0,
           "max": "*",
           "target": [
            {
             "type": "Procedure",
             "link": [
              {
               "path": "Procedure.extension.valueReference",
               "sliceName": "genomic-study-analysis",
               "description": "Component of genomic study",
               "min": 0,
               "max": "*",
               "target": [
                {
                 "type": "Procedure"
                }
               ]
              }
             ]
            }
           ]
          },
          {
           "path": "DiagnosticReport.extension.valueReference",
           "sliceName": "supporting-info",
           "description": "Supporting Info references, used to capture clinical information and references to Genomic Data Files",
           "min": 0,
           "max": "*",
           "target": [
            {
             "type": "DocumentReference"
            },
            {
             "type": "Resource"
            }
           ]
          },
          {
           "path": "DiagnosticReport.subject",
           "description": "Link to the patient the report is concerning",
           "min": 1,
           "max": "1",
           "target": [
            {
             "type": "Patient"
            }
           ]
          },
          {
           "path": "DiagnosticReport.basedOn",
           "description": "ServiceRequest(s) that this report is based on",
           "min": 1,
           "max": "*",
           "target": [
            {
             "type": "ServiceRequest"
            }
           ]
          },
          {
           "path": "DiagnosticReport.specimen",
           "description": "Link to the specimens used during testing to generate the report",
           "min": 0,
           "max": "*",
           "target": [
            {
             "type": "Specimen",
             "link": [
              {
               "path": "Specimen.subject",
               "description": "Link to the patient the specimen is from",
               "min": 1,
               "max": "1",
               "target": [
                {
                 "type": "Patient"
                }
               ]
              },
              {
               "path": "Specimen.parent",
               "description": "Link to parent specimen resource",
               "min": 0,
               "max": "1",
               "target": [
                {
                 "type": "Specimen"
                }
               ]
              },
              {
               "path": "Specimen.collection.collector",
               "description": "Link to collector of the specimen",
               "min": 0,
               "max": "1",
               "target": [
                {
                 "type": "PractitionerRole"
                }
               ]
              },
              {
               "path": "Specimen.collection.bodySite.extension('http://hl7.org/fhir/5.0/StructureDefinition/extension-Specimen.collection.bodySite').valueReference",
               "sliceName": "ext-R5-Specimen.co.bodySite",
               "description": "Link to the body structure detailing the morphology and topography of the specimen",
               "min": 0,
               "max": "1",
               "target": [
                {
                 "type": "BodyStructure"
                }
               ]
              }
             ]
            }
           ]
          },
          {
           "path": "DiagnosticReport.result",
           "description": "Links to Observations forming the results reported in the DiagnosticReport",
           "min": 0,
           "max": "*",
           "target": [
            {
             "type": "Observation",
             "link": [
              {
               "path": "Observation.performer",
               "description": "Optional link to actor who performed the observation (could be Patient, PractitionerRole or RelatedPerson)",
               "min": 0,
               "max": "1",
               "target": [
                {
                 "type": "Resource"
                }
               ]
              },
              {
               "path": "Observation.hasMember",
               "description": "Optional link to observation if parent observation is a panel",
               "min": 0,
               "max": "*",
               "target": [
                {
                 "type": "Observation"
                }
               ]
              }
             ]
            }
           ]
          }
         ]
        }
       ]
      }
     ]
    }
   ]
  }
 ]
}