NHSDigital · KazeemHamzat · Feb 10, 2025 · Feb 10, 2025 · Feb 10, 2025 · Feb 10, 2025
diff --git a/Bundle/Bundle-EULabGenomicReport-Example.json b/Bundle/Bundle-EULabGenomicReport-Example.json
diff --git a/Composition/Composition-EULabGenomicReport-Example.json b/Composition/Composition-EULabGenomicReport-Example.json
@@ -0,0 +1,94 @@
+{
+  "resourceType": "Composition",
+  "id": "Composition-EULabGenomicReport-Example",
+  "meta": {
+    "profile": [
+      "http://hl7.eu/fhir/laboratory/StructureDefinition/Composition-eu-lab"
+    ]
+  },
+  "extension": [
+    {
+      "url": "http://hl7.eu/fhir/StructureDefinition/composition-basedOn-order-or-requisition",
+      "valueReference": {
+        "reference": "ServiceRequest/ServiceRequest-WGSTestOrderFormUpdated-TrioTesting-Example"
+      }
+    },
+    {
+      "url": "http://hl7.eu/fhir/StructureDefinition/information-recipient",
+      "valueReference": {
+        "reference": "PractitionerRole/PractitionerRole-EugeneSmith-Example"
+      }
+    },
+    {
+      "url": "http://hl7.eu/fhir/laboratory/StructureDefinition/composition-diagnosticReportReference",
+      "valueReference": {
+        "reference": "DiagnosticReport/DiagnosticReport-GenomicVariantAssessment-Example"
+      }
+    }
+  ],
+  "status": "final",
+  "type": {
+    "coding": [
+      {
+        "system": "http://loinc.org",
+        "code": "51969-4",
+        "display": "Genetic analysis report"
+      }
+    ]
+  },
+  "category": [
+    {
+      "coding": [
+        {
+          "system": "http://loinc.org",
+          "code": "26436-6",
+          "display": "Laboratory studies (set)"
+        }
+      ]
+    },
+    {
+      "coding": [
+        {
+          "system": "http://snomed.info/sct",
+          "code": "1236877003",
+          "display": "Genetic pathology"
+        }
+      ]
+    }
+  ],
+  "subject": {
+        "reference": "Patient/Patient-PheobeSmitham-Example"
+  },
+  "date": "2023-10-16T00:00:00-05:00",
+  "author": [
+    {
+      "identifier": {
+        "system": "https://fhir.nhs.uk/Id/ods-organization-code",
+        "value": "R0A"
+      }
+    }
+  ],
+  "title": "Example Genomic Laboratory (Single) Report",
+  "section": [
+    {
+      "title": "Results",
+      "code": {
+        "coding": [
+          {
+            "system": "http://loinc.org",
+            "code": "26436-6",
+            "display": "Laboratory studies (set)"
+          }
+        ]
+      },
+      "entry": [
+        {
+          "reference": "Observation/Observation-GenomicTherapeuticImplication-Example"
+        },
+        {
+          "reference": "Observation-GenomicsVariantSLC52A2-Example"
+        }
+      ]
+    }
+  ]
+}
diff --git a/DiagnosticReport/DiagnosticReport-GenomicVariantAssessment-Example.json b/DiagnosticReport/DiagnosticReport-GenomicVariantAssessment-Example.json
@@ -4,10 +4,17 @@
   "meta": {
     "profile": [
       "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report",
-      "https://fhir.hl7.org.uk/StructureDefinition/UKCore-DiagnosticReport"
+      "https://fhir.hl7.org.uk/StructureDefinition/UKCore-DiagnosticReport",
+      "http://hl7.eu/fhir/laboratory/StructureDefinition/DiagnosticReport-eu-lab"
     ]
   },
   "extension": [
+    {
+      "url": "http://hl7.org/fhir/5.0/StructureDefinition/extension-DiagnosticReport.composition",
+      "valueReference": {
+        "reference": "Composition/Composition-EULabGenomicReport-Example"
+      }
+    },
     {
       "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action",
       "valueReference": {
@@ -63,13 +70,23 @@
           "code": "GE"
         }
       ]
+    },
+    {
+      "coding": [
+        {
+          "system": "http://snomed.info/sct",
+          "code": "1236877003",
+          "display": "Genetic pathology"
+        }
+      ]
     }
   ],
   "code": {
     "coding": [
       {
         "system": "http://loinc.org",
-        "code": "51969-4"
+        "code": "51969-4",
+        "display": "Genetic analysis report"
       }
     ]
   },
@@ -86,6 +103,11 @@
       }
     }
   ],
+  "specimen": [
+    {
+      "reference": "Specimen/Specimen-PheobeSmitham-Example"
+    }
+  ],
   "media": [
     {
       "link": {
@@ -110,11 +132,11 @@
   ],
   "result": [
     {
-      "reference": "Observation/Observation-GenomicsVariant-SLC52A2",
+      "reference": "Observation/Observation-GenomicsVariantSLC52A2-Example",
       "display": "Brown-Vialetto-Van Laere syndrome type 2"
     },
     {
-      "reference": "Observation/Observation-GenomicImplication-Therapeutic"
+      "reference": "Observation/Observation-GenomicTherapeuticImplication-Example"
     }
   ],
   "conclusion": "Pheobe is homozygous for a pathogenic SLC52A2 missense variant (details below) previously reported by Johnson et al 2012 (PMID22740598). Biallelic pathogenic SLC52A2 variants cause autosomal recessive Brown-Vialetto-Van Laere syndrome type 2 (MIM614707).",

diff --git a/NamingSystem/NamingSystem-Genomics-report-number.json b/NamingSystem/NamingSystem-Genomics-report-number.json
@@ -0,0 +1,43 @@
+{
+  "resourceType": "NamingSystem",
+  "id": "genomics-report-number",
+  "name": "GenomicsReportNumber",
+  "status": "draft",
+  "kind": "identifier",
+  "date": "2025-02-10",
+  "publisher": "NHS England",
+  "contact": [
+    {
+      "name": "NHS England",
+      "telecom": [
+        {
+          "system": "email",
+          "value": "interoperabilityteam@nhs.net",
+          "use": "work",
+          "rank": 1
+        }
+      ]
+    },
+    {
+      "name": "NHS Genomic Medicine Service",
+      "telecom": [
+        {
+          "system": "email",
+          "value": "england.genomics@nhs.net",
+          "use": "work",
+          "rank": 1
+        }
+      ]
+    }
+  ],
+  "responsible": "NHS Genomic Interop Programme",
+  "description": "Genomic Medicine Service Unique Report Number",
+	"usage": "Assigned by central GMS system on receipt of a test report",
+  "uniqueId":  [
+    {
+      "type": "uri",
+      "value": "https://fhir.nhs.uk/Id/GMSReport",
+      "preferred": true
+    }
+  ]
+}
diff --git a/Observation/Observation-GenomicTherapeuticImplication-Example.json b/Observation/Observation-GenomicTherapeuticImplication-Example.json
@@ -3,7 +3,8 @@
   "id": "Observation-GenomicTherapeuticImplication-Example",
   "meta": {
     "profile": [
-      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication"
+      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication",
+      "http://hl7.eu/fhir/laboratory/StructureDefinition/Observation-resultslab-eu-lab"
     ]
   },
   "status": "final",
@@ -47,7 +48,7 @@
   ],
   "derivedFrom": [
     {
-      "reference": "Observation/Oservation-GenomicsVariant-SLC52A2"
+      "reference": "Observation/Observation-GenomicsVariantSLC52A2-Example"
     }
   ],
   "component": [
@@ -85,8 +86,8 @@
         "coding": [
           {
             "system": "http://snomed.info/sct",
-            "code": "777436008",
-            "display": "Riboflavin"
+            "code": "438481000124108",
+            "display": "Riboflavin supplement"
           }
         ]
       }

diff --git a/Observation/Observation-GenomicsVariantSLC52A2-Example.json b/Observation/Observation-GenomicsVariantSLC52A2-Example.json
@@ -3,7 +3,8 @@
   "id": "Observation-GenomicsVariantSLC52A2-Example",
   "meta": {
     "profile": [
-      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
+      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant",
+      "http://hl7.eu/fhir/laboratory/StructureDefinition/Observation-resultslab-eu-lab"
     ]
   },
   "status": "final",

diff --git a/Observation/Observation-NoTransfusionProbandFather-Example.json b/Observation/Observation-NoTransfusionProbandFather-Example.json
@@ -27,5 +27,5 @@
       "value": "9449307636"
     }
   },
-  "effectiveDateTime": "2023-09-15T15:00:00Z",
+  "effectiveDateTime": "2023-09-15T15:00:00Z"
 }
diff --git a/Patient/Patient-PheobeSmitham-Example.json b/Patient/Patient-PheobeSmitham-Example.json
@@ -1,6 +1,12 @@
 {
   "resourceType": "Patient",
   "id": "Patient-PheobeSmitham-Example",
+  "meta": {
+    "profile": [
+      "https://fhir.hl7.org.uk/StructureDefinition/UKCore-Patient",
+      "http://hl7.eu/fhir/laboratory/StructureDefinition/Patient-eu-lab"
+    ]
+  },
   "extension": [
     {
       "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex",

diff --git a/ServiceRequest/ServiceRequest-WGSTestOrderFormUpdated-TrioTesting-Example.json b/ServiceRequest/ServiceRequest-WGSTestOrderFormUpdated-TrioTesting-Example.json
@@ -19,6 +19,12 @@
       }
     }
   ],
+  "identifier": [
+    {
+      "system": "https://fhir.nhs.uk/Id/GMSOrder",
+      "value": "RR8F1792"
+    }
+  ],
   "requisition": {
     "assigner": {
       "identifier": {

diff --git a/Task/Task-FollowupRecommendationReport-Example.json b/Task/Task-FollowupRecommendationReport-Example.json
@@ -22,7 +22,7 @@
     "reference": "Patient/Patient-PheobeSmitham-Example"
   },
   "reasonReference": {
-    "reference": "Observation/Observation-GenomicImplication-Therapeutic"
+    "reference": "Observation/Observation-GenomicTherapeuticImplication-Example"
   },
   "input": [
     {

diff --git a/fhirpkg.lock.json b/fhirpkg.lock.json
@@ -1,11 +1,11 @@
 {
-  "updated": "2025-05-08T09:07:12.7767319+01:00",
+  "updated": "2025-09-05T16:14:34.8200964+01:00",
   "dependencies": {
-    "fhir.r4.ukcore.stu3.currentbuild": "0.0.18-pre-release",
+    "fhir.r4.ukcore.stu3.currentbuild": "0.24.0-pre-release",
     "hl7.fhir.r4.core": "4.0.1",
+    "hl7.fhir.r5.core": "5.0.0",
     "hl7.fhir.uv.genomics-reporting": "3.0.0-ballot",
-    "hl7.terminology.r4": "5.3.0",
-    "hl7.fhir.uv.extensions.r4": "1.0.0"
+    "hl7.fhir.eu.laboratory": "0.1.0-ballot"
   },
   "missing": {}
 }
diff --git a/package.json b/package.json
@@ -7,9 +7,11 @@
   ],
   "jurisdiction": "urn:iso:std:iso:3166:-2:GB-ENG",
   "dependencies": {
-    "fhir.r4.ukcore.stu3.currentbuild": "0.0.18-pre-release",
+    "fhir.r4.ukcore.stu3.currentbuild": "0.24.0-pre-release",
     "hl7.fhir.r4.core": "4.0.1",
-    "hl7.fhir.uv.genomics-reporting": "3.0.0-ballot"
+    "hl7.fhir.uv.genomics-reporting": "3.0.0-ballot",
+    "hl7.fhir.uv.ips": "1.1.0",
+    "hl7.fhir.eu.laboratory": "0.1.0-ballot"
   }
 }