FHIR IG analytics| Package | fhir.nwgenomics.nhs.uk |
| Resource Type | Bundle |
| Id | Bundle-FHIRDocumentGeneticReportBundle-ctDNA.json |
| FHIR Version | R4 |
No resources found
No resources found
No narrative content found in resource
FHIR
FHIRsmith{
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"id": "FHIRDocumentGeneticReportBundle-ctDNA",
"meta": {
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"identifier": {
"system": "urn:oid:2.16.724.4.8.10.200.10",
"value": "088ce7a7-d6ca-44ac-b345-208866d4f496"
},
"type": "document",
"timestamp": "2024-10-13T10:33:00+00:00",
"entry": [
{
"fullUrl": "urn:uuid:4bc6be60-53d2-4143-8239-f3e2d257e61f",
"resource": {
"resourceType": "Composition",
"id": "Composition-GenomicsReport-ctDNA",
"meta": {
"profile": [
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"text": {
"status": "extensions",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Composition_Composition-GenomicsReport-ctDNA\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Composition Composition-GenomicsReport-ctDNA</b></p><a name=\"Composition-GenomicsReport-ctDNA\"> </a><a name=\"hcComposition-GenomicsReport-ctDNA\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-Composition-GenomicReport.html\">Composition Genomic Report</a></p></div><p><b>Document DiagnosticReport Reference</b>: <a href=\"Bundle-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-0a6ad8ec-b069-4a65-8c65-c7569d8413e3\">Diagnostic Report for 'Genetic report' for '->Theon SHEFFIELD'</a></p><p><b>identifier</b>: <code>https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier</code>/T26-59XG</p><p><b>status</b>: Final</p><p><b>type</b>: <span title=\"Codes:{https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory M4.14}, {http://snomed.info/sct 1054161000000101}\">Genetic report</span></p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>date</b>: 2025-10-14 15:59:16+0000</p><p><b>author</b>: North West Genomics (Identifier: <a href=\"NamingSystem-ods-organization-code-namingsystem.html\" title=\"The identifier system for an Organisation registered with the Organisation Data Service (ODS).\">ODS Organisation Code</a>/699X0)</p><p><b>title</b>: Composition Genomics Report ctDNA</p></div>"
},
"extension": [
{
"url": "http://hl7.eu/fhir/extensions/StructureDefinition/composition-diagnosticReportReference",
"valueReference": {
"reference": "urn:uuid:0a6ad8ec-b069-4a65-8c65-c7569d8413e3"
}
}
],
"identifier": {
"system": "https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier",
"value": "T26-59XG",
"assigner": {
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "699X0"
}
}
},
"status": "final",
"type": {
"coding": [
{
"system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
"code": "M4.14"
},
{
"system": "http://snomed.info/sct",
"code": "1054161000000101",
"display": "Genetic report"
}
]
},
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
"code": "GE",
"display": "Genetics"
}
]
}
],
"subject": {
"reference": "urn:uuid:2160525b-0168-4f40-8ebf-9b053052a62c",
"identifier": {
"system": "https://fhir.nhs.uk/Id/nhs-number",
"value": "9737873858"
},
"display": "Theon SHEFFIELD"
},
"date": "2025-10-14T15:59:16+00:00",
"author": [
{
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "699X0"
},
"display": "North West Genomics"
}
],
"title": "Composition Genomics Report ctDNA",
"section": [
{
"title": "Presented Format",
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "77599-9"
}
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><ul><li>Presented Form</li></ul>This is a PDF document which holds the narrative which ideally would be contained in this Composition resource.</div>"
},
"entry": [
{
"reference": "urn:uuid:13028359-6a38-4dff-8978-55a57dbdfb56"
},
{
"reference": "urn:uuid:d6eeedd1-92d3-45b9-bf33-6401e804425f"
}
]
},
{
"title": "Findings",
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "59776-5",
"display": "Findings"
}
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><ul><li>Genomics Findings</li></ul>TODO data from variant and regions studied to be rendered here. For now (phase 1) see PDF, the references to structured data should be ignored.</div>"
},
"entry": [
{
"reference": "urn:uuid:00c22e97-a226-4845-b17a-e24ec1f4f77a"
},
{
"reference": "urn:uuid:a151b1ed-5aef-4c36-af50-987cfbd5bad4"
}
]
},
{
"title": "Implications",
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "59768-2",
"display": "Procedure indications Imp"
}
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><ul><li>Genomics Implications</li></ul>See PDF</div>"
}
}
]
}
},
{
"fullUrl": "urn:uuid:2160525b-0168-4f40-8ebf-9b053052a62c",
"resource": {
"resourceType": "Patient",
"id": "Patient-Sheffield",
"meta": {
"profile": [
"https://fhir.nwgenomics.nhs.uk/StructureDefinition/Patient"
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Patient_Patient-Sheffield\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Patient Patient-Sheffield</b></p><a name=\"Patient-Sheffield\"> </a><a name=\"hcPatient-Sheffield\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-Patient.html\">Patient</a></p></div><p style=\"border: 1px #661aff solid; background-color: #e6e6ff; padding: 10px;\">Theon SHEFFIELD (official) Male, DoB: 1986-09-12 ( Patient internal identifier)</p><hr/><table class=\"grid\"><tr><td style=\"background-color: #f3f5da\" title=\"Record is active\">Active:</td><td colspan=\"3\">true</td></tr><tr><td style=\"background-color: #f3f5da\" title=\"Other Id (see the one above)\">Other Id:</td><td colspan=\"3\">National Health Plan Identifier/9737873858 (use: official, )</td></tr><tr><td style=\"background-color: #f3f5da\" title=\"Ways to contact the Patient\">Contact Detail</td><td colspan=\"3\">SPITAL STREET SHEFFIELD S3 9LB (home)</td></tr><tr><td style=\"background-color: #f3f5da\" title=\"Patient Links\">Links:</td><td colspan=\"3\"><ul><li>General Practitioner: Sheffield Medical Centre (Identifier: <a href=\"NamingSystem-ods-organization-code-namingsystem.html\" title=\"The identifier system for an Organisation registered with the Organisation Data Service (ODS).\">ODS Organisation Code</a>/C88622)</li></ul></td></tr></table></div>"
},
"identifier": [
{
"use": "official",
"type": {
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0203",
"code": "NH"
}
]
},
"system": "https://fhir.nhs.uk/Id/nhs-number",
"value": "9737873858"
},
{
"type": {
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0203",
"code": "PI"
}
]
},
"value": "336292",
"assigner": {
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "699X0"
}
}
}
],
"active": true,
"name": [
{
"use": "official",
"family": "SHEFFIELD",
"given": [
"Theon"
]
}
],
"gender": "male",
"birthDate": "1986-09-12",
"address": [
{
"use": "home",
"type": "both",
"line": [
"SPITAL STREET"
],
"city": "SHEFFIELD",
"postalCode": "S3 9LB"
}
],
"generalPractitioner": [
{
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "C88622"
},
"display": "Sheffield Medical Centre"
}
]
}
},
{
"fullUrl": "urn:uuid:6e26d6b3-490e-4348-9d6c-37281567d6ec",
"resource": {
"resourceType": "ServiceRequest",
"id": "ServiceRequest-ctDNA",
"meta": {
"versionId": "1.0",
"profile": [
"https://fhir.nwgenomics.nhs.uk/StructureDefinition/ServiceRequest"
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"ServiceRequest_ServiceRequest-ctDNA\"> </a><p class=\"res-header-id\"><b>Generated Narrative: ServiceRequest ServiceRequest-ctDNA</b></p><a name=\"ServiceRequest-ctDNA\"> </a><a name=\"hcServiceRequest-ctDNA\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">version: 1.0</p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-ServiceRequest.html\">ServiceRequest</a></p></div><p><b>identifier</b>: Filler Identifier/T26-59XG</p><p><b>requisition</b>: Placer Group Number/R26-15AY</p><p><b>status</b>: Active</p><p><b>intent</b>: Order</p><p><b>category</b>: <span title=\"Codes:{http://snomed.info/sct 116148004}\">Molecular genetics procedure</span></p><p><b>code</b>: <span title=\"Codes:{https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory M4.14}\">Non-Small Cell Lung Cancer, Multi-target ctDNA combined Multi-target NGS panel, small variant (EGFR, ALK, BRAF, KRAS, MET exon 14 skipping and copy number variations) and structural variant (ROS1, RET, ALK, NTRK1, NTRK2, NTRK3, MET exon</span></p><p><b>subject</b>: <a href=\"Bundle-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-2160525b-0168-4f40-8ebf-9b053052a62c\">Theon SHEFFIELD</a></p><p><b>requester</b>: <a href=\"Bundle-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-4446ab81-35ef-49cb-b2fe-1d6f1a0dcc02\">PractitionerRole: specialty = General Surgery</a></p><p><b>performer</b>: Identifier: <a href=\"NamingSystem-ods-organization-code-namingsystem.html\" title=\"The identifier system for an Organisation registered with the Organisation Data Service (ODS).\">ODS Organisation Code</a>/699X0</p><p><b>reasonCode</b>: <span title=\"Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication M4}\">M4</span></p><p><b>specimen</b>: <a href=\"Bundle-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-b930b4c4-327a-4728-8bb9-f90061914cc5\">Specimen: identifier = Filler Identifier; status = available; type = Blood specimen; receivedTime = 2026-06-30</a></p></div>"
},
"identifier": [
{
"type": {
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0203",
"code": "FILL"
}
]
},
"system": "https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier",
"value": "T26-59XG",
"assigner": {
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "699X0"
}
}
}
],
"requisition": {
"type": {
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0203",
"code": "PGN"
}
]
},
"system": "https://fhir.nwgenomics.nhs.uk/iGene/ReferralIdentifier",
"value": "R26-15AY",
"assigner": {
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "699X0"
}
}
},
"status": "active",
"intent": "order",
"category": [
{
"coding": [
{
"system": "http://snomed.info/sct",
"code": "116148004",
"display": "Molecular genetics procedure"
}
]
}
],
"code": {
"coding": [
{
"system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
"code": "M4.14"
}
]
},
"subject": {
"reference": "urn:uuid:2160525b-0168-4f40-8ebf-9b053052a62c",
"identifier": {
"system": "https://fhir.nhs.uk/Id/nhs-number",
"value": "9737873858"
},
"display": "Theon SHEFFIELD"
},
"requester": {
"reference": "urn:uuid:4446ab81-35ef-49cb-b2fe-1d6f1a0dcc02",
"type": "PractitionerRole",
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "RHQ"
}
},
"performer": [
{
"type": "Organization",
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "699X0"
}
}
],
"reasonCode": [
{
"coding": [
{
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication",
"code": "M4"
}
]
}
],
"specimen": [
{
"reference": "urn:uuid:b930b4c4-327a-4728-8bb9-f90061914cc5"
}
]
}
},
{
"fullUrl": "urn:uuid:4446ab81-35ef-49cb-b2fe-1d6f1a0dcc02",
"resource": {
"resourceType": "PractitionerRole",
"id": "4446ab81-35ef-49cb-b2fe-1d6f1a0dcc02",
"meta": {
"profile": [
"https://fhir.nwgenomics.nhs.uk/StructureDefinition/PractitionerRole"
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"PractitionerRole_4446ab81-35ef-49cb-b2fe-1d6f1a0dcc02\"> </a><p class=\"res-header-id\"><b>Generated Narrative: PractitionerRole 4446ab81-35ef-49cb-b2fe-1d6f1a0dcc02</b></p><a name=\"4446ab81-35ef-49cb-b2fe-1d6f1a0dcc02\"> </a><a name=\"hc4446ab81-35ef-49cb-b2fe-1d6f1a0dcc02\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-PractitionerRole.html\">PractitionerRole</a></p></div><p><b>practitioner</b>: Sheffield Lung Doctor (Identifier: <a href=\"NamingSystem-gmcnumber-namingsystem.html\" title=\"General Medical Council Consultant Code. For more details see: [NHS Data Model Dictionary](https://www.datadictionary.nhs.uk/attributes/general_medical_council_reference_number.html)\">GMC Number</a>/C9999998)</p><p><b>organization</b>: Identifier: <a href=\"NamingSystem-ods-organization-code-namingsystem.html\" title=\"The identifier system for an Organisation registered with the Organisation Data Service (ODS).\">ODS Organisation Code</a>/RHQ</p><p><b>specialty</b>: <span title=\"Codes:{https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode 100}\">General Surgery</span></p></div>"
},
"practitioner": {
"identifier": {
"system": "https://fhir.hl7.org.uk/Id/gmc-number",
"value": "C9999998"
},
"display": "Sheffield Lung Doctor"
},
"organization": {
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "RHQ"
}
},
"specialty": [
{
"coding": [
{
"system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode",
"code": "100"
}
]
}
]
}
},
{
"fullUrl": "urn:uuid:b930b4c4-327a-4728-8bb9-f90061914cc5",
"resource": {
"resourceType": "Specimen",
"id": "Specimen-ctDNA",
"meta": {
"versionId": "1.0",
"profile": [
"https://fhir.nwgenomics.nhs.uk/StructureDefinition/Specimen"
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Specimen_Specimen-ctDNA\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Specimen Specimen-ctDNA</b></p><a name=\"Specimen-ctDNA\"> </a><a name=\"hcSpecimen-ctDNA\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">version: 1.0</p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-Specimen.html\">Specimen</a></p></div><p><b>identifier</b>: Filler Identifier/S26-1K1Q</p><p><b>status</b>: Available</p><p><b>type</b>: <span title=\"Codes:{http://snomed.info/sct 119297000}\">Blood specimen</span></p><p><b>subject</b>: <a href=\"Bundle-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-2160525b-0168-4f40-8ebf-9b053052a62c\">Theon SHEFFIELD</a></p><p><b>receivedTime</b>: 2026-06-30</p><h3>Collections</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Collected[x]</b></td></tr><tr><td style=\"display: none\">*</td><td>2026-06-29</td></tr></table></div>"
},
"identifier": [
{
"type": {
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0203",
"code": "FILL"
}
]
},
"system": "https://fhir.nwgenomics.nhs.uk/iGene/SpecimenIdentifier",
"value": "S26-1K1Q",
"assigner": {
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "699X0"
}
}
}
],
"status": "available",
"type": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "119297000",
"display": "Blood specimen"
}
]
},
"subject": {
"reference": "urn:uuid:2160525b-0168-4f40-8ebf-9b053052a62c",
"identifier": {
"system": "https://fhir.nhs.uk/Id/nhs-number",
"value": "9737873858"
},
"display": "Theon SHEFFIELD"
},
"receivedTime": "2026-06-30",
"collection": {
"collectedDateTime": "2026-06-29"
}
}
},
{
"fullUrl": "urn:uuid:0a6ad8ec-b069-4a65-8c65-c7569d8413e3",
"resource": {
"resourceType": "DiagnosticReport",
"id": "DiagnosticReport-ctDNA",
"meta": {
"versionId": "1.0",
"profile": [
"https://fhir.nwgenomics.nhs.uk/StructureDefinition/DiagnosticReport"
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"DiagnosticReport_DiagnosticReport-ctDNA\"> </a><p class=\"res-header-id\"><b>Generated Narrative: DiagnosticReport DiagnosticReport-ctDNA</b></p><a name=\"DiagnosticReport-ctDNA\"> </a><a name=\"hcDiagnosticReport-ctDNA\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">version: 1.0</p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-DiagnosticReport.html\">Diagnostic Report</a></p></div><h2><span title=\"Codes:{https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory M4.14}, {http://snomed.info/sct 1054161000000101}\">Genetic report</span> (<span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span>) </h2><table class=\"grid\"><tr><td>Subject</td><td>Theon SHEFFIELD (official) Male, DoB: 1986-09-12 ( Patient internal identifier)</td></tr><tr><td>Relevant Time</td><td>2025-10-14 15:59:16+0000</td></tr><tr><td>Performer</td><td> NW GMSA (Identifier: <a href=\"NamingSystem-ods-organization-code-namingsystem.html\" title=\"The identifier system for an Organisation registered with the Organisation Data Service (ODS).\">ODS Organisation Code</a>/699X0)</td></tr><tr><td>Identifier</td><td> <code>https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier</code>/T26-59XG</td></tr><tr><td>Presented Form</td><td> application/pdf @ <a href=\"urn:uuid:d6eeedd1-92d3-45b9-bf33-6401e804425f\">urn:uuid:d6eeedd1-92d3-45b9-bf33-6401e804425f <img src=\"external.png\" alt=\"icon\" style=\"vertical-align: baseline\"/></a></td></tr></table><p><b>Report Details</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>Flags</b></td><td><b>Note</b></td><td><b>Relevant Time</b></td></tr><tr><td><a href=\"Bundle-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-00c22e97-a226-4845-b17a-e24ec1f4f77a\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></td><td>Final</td><td><blockquote><div><p>ILLUSTRATIVE VALUES ONLY. The allelic frequency component (81258-6) is the field of primary clinical interest for a dPCR ctDNA result: it carries the mutant-allele fraction quantified directly by the assay (droplet/bead-positive fraction, Poisson-corrected), which is what a clinician uses to gauge ctDNA burden and track it serially — analogous to how VAF is used from NGS, but here derived from a targeted few-plex assay rather than sequencing depth.</p>\n</div></blockquote></td><td>2026-07-13 10:37:26+0000</td></tr><tr><td><a href=\"Bundle-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-a151b1ed-5aef-4c36-af50-987cfbd5bad4\"><span title=\"Codes:{http://loinc.org 53041-0}\">DNA region of interest panel</span></a></td><td/><td>Final</td><td><blockquote><div><p>ILLUSTRATIVE: represents that the digital PCR assay interrogated only the EGFR exon 20 T790M hotspot position (and, in a multiplexed panel, a small number of other named hotspots such as exon 19 deletions / L858R) — not the full coding sequence of EGFR. Unlike NGS, a negative dPCR result only rules out variants at the specific positions named here; it should not be read as 'EGFR negative' more broadly. Coordinate/region detail (start/end, genome build) is omitted from this illustrative example and should be populated from the assay's validated target list in a real implementation.</p>\n</div></blockquote></td><td>2026-07-13 10:37:26+0000</td></tr></table><p><b>Coded Conclusions:</b></p><ul><li><span title=\"Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode 431}\">TARGET DETECTED AT A LEVEL REQUIRING CLINICAL ACTION</span></li></ul></div>"
},
"identifier": [
{
"system": "https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier",
"value": "T26-59XG",
"assigner": {
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "699X0"
}
}
}
],
"basedOn": [
{
"reference": "urn:uuid:6e26d6b3-490e-4348-9d6c-37281567d6ec",
"type": "ServiceRequest",
"identifier": {
"type": {
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0203",
"code": "FILL"
}
]
},
"system": "https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier",
"value": "T26-59XG",
"assigner": {
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "699X0"
}
}
}
}
],
"status": "final",
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
"code": "GE",
"display": "Genetics"
}
]
}
],
"code": {
"coding": [
{
"system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
"code": "M4.14"
},
{
"system": "http://snomed.info/sct",
"code": "1054161000000101",
"display": "Genetic report"
}
]
},
"subject": {
"reference": "urn:uuid:2160525b-0168-4f40-8ebf-9b053052a62c",
"identifier": {
"system": "https://fhir.nhs.uk/Id/nhs-number",
"value": "9737873858"
},
"display": "Theon SHEFFIELD"
},
"effectiveDateTime": "2025-10-14T15:59:16+00:00",
"performer": [
{
"type": "Organization",
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "699X0"
},
"display": "NW GMSA"
}
],
"resultsInterpreter": [
{
"display": "Jonathan Edgerley"
}
],
"result": [
{
"reference": "urn:uuid:00c22e97-a226-4845-b17a-e24ec1f4f77a"
},
{
"reference": "urn:uuid:a151b1ed-5aef-4c36-af50-987cfbd5bad4"
}
],
"conclusionCode": [
{
"coding": [
{
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode",
"code": "431",
"display": "TARGET DETECTED AT A LEVEL REQUIRING CLINICAL ACTION"
}
]
}
],
"presentedForm": [
{
"contentType": "application/pdf",
"language": "en-GB",
"url": "urn:uuid:d6eeedd1-92d3-45b9-bf33-6401e804425f",
"title": "ctDNA Genomic Report for Theon Sheffield"
}
]
}
},
{
"fullUrl": "urn:uuid:00c22e97-a226-4845-b17a-e24ec1f4f77a",
"resource": {
"resourceType": "Observation",
"id": "variant-egfr",
"meta": {
"profile": [
"https://fhir.nwgenomics.nhs.uk/StructureDefinition/Variant"
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_variant-egfr\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation variant-egfr</b></p><a name=\"variant-egfr\"> </a><a name=\"hcvariant-egfr\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-Variant.html\">Variant (Observation)</a></p></div><p><b>identifier</b>: 00c22e97-a226-4845-b17a-e24ec1f4f77a</p><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Bundle-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-2160525b-0168-4f40-8ebf-9b053052a62c\">Theon SHEFFIELD</a></p><p><b>effective</b>: 2026-07-13 10:37:26+0000</p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><p><b>note</b>: </p><blockquote><div><p>ILLUSTRATIVE VALUES ONLY. The allelic frequency component (81258-6) is the field of primary clinical interest for a dPCR ctDNA result: it carries the mutant-allele fraction quantified directly by the assay (droplet/bead-positive fraction, Poisson-corrected), which is what a clinician uses to gauge ctDNA burden and track it serially — analogous to how VAF is used from NGS, but here derived from a targeted few-plex assay rather than sequencing depth.</p>\n</div></blockquote><p><b>method</b>: <span title=\"Codes:\">Digital PCR (BEAMing / OncoBEAM platform). NOTE: unlike 'Sequencing' (LOINC LA26398-0), the standard LOINC/SNOMED CT answer lists referenced by this IG do not currently include a dedicated coded answer for 'digital PCR' — captured here as free text pending a suitable coded term (e.g. a local or SNOMED CT extension) being agreed with your terminology team.</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org HGNC:3236}\">EGFR</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NM_005228.5:c.2369C>T}\">NM_005228.5:c.2369C>T</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes:{http://www.sequenceontology.org SO:1000002}\">substitution</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48002-0}\">Genomic source class [Type]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6684-0}\">Somatic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81258-6}\">Sample variant allelic frequency [NFr]</span></p><p><b>value</b>: 0.42 %<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM code% = '%')</span></p></blockquote></div>"
},
"identifier": [
{
"value": "00c22e97-a226-4845-b17a-e24ec1f4f77a"
}
],
"status": "final",
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
"code": "GE",
"display": "Genetics"
}
]
},
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/observation-category",
"code": "laboratory"
}
]
}
],
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "69548-6",
"display": "Genetic variant assessment"
}
]
},
"subject": {
"reference": "urn:uuid:2160525b-0168-4f40-8ebf-9b053052a62c",
"display": "Theon SHEFFIELD"
},
"effectiveDateTime": "2026-07-13T10:37:26+00:00",
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA9633-4",
"display": "Present"
}
]
},
"note": [
{
"text": "ILLUSTRATIVE VALUES ONLY. The allelic frequency component (81258-6) is the field of primary clinical interest for a dPCR ctDNA result: it carries the mutant-allele fraction quantified directly by the assay (droplet/bead-positive fraction, Poisson-corrected), which is what a clinician uses to gauge ctDNA burden and track it serially — analogous to how VAF is used from NGS, but here derived from a targeted few-plex assay rather than sequencing depth."
}
],
"method": {
"text": "Digital PCR (BEAMing / OncoBEAM platform). NOTE: unlike 'Sequencing' (LOINC LA26398-0), the standard LOINC/SNOMED CT answer lists referenced by this IG do not currently include a dedicated coded answer for 'digital PCR' — captured here as free text pending a suitable coded term (e.g. a local or SNOMED CT extension) being agreed with your terminology team."
},
"component": [
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:3236",
"display": "EGFR"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48004-6",
"display": "DNA change (c.HGVS)"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://varnomen.hgvs.org",
"code": "NM_005228.5:c.2369C>T"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48019-4",
"display": "DNA change type"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.sequenceontology.org",
"code": "SO:1000002",
"display": "substitution"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48002-0",
"display": "Genomic source class [Type]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA6684-0",
"display": "Somatic"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "81258-6",
"display": "Sample variant allelic frequency [NFr]"
}
]
},
"valueQuantity": {
"value": 0.42,
"unit": "%",
"system": "http://unitsofmeasure.org",
"code": "%"
}
}
]
}
},
{
"fullUrl": "urn:uuid:a151b1ed-5aef-4c36-af50-987cfbd5bad4",
"resource": {
"resourceType": "Observation",
"id": "region-studied-egfr-dpcr",
"meta": {
"profile": [
"https://fhir.nwgenomics.nhs.uk/StructureDefinition/GenomicObservation"
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_region-studied-egfr-dpcr\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation region-studied-egfr-dpcr</b></p><a name=\"region-studied-egfr-dpcr\"> </a><a name=\"hcregion-studied-egfr-dpcr\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-GenomicObservation.html\">Genomic Observation</a></p></div><p><b>identifier</b>: a151b1ed-5aef-4c36-af50-987cfbd5bad4</p><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53041-0}\">DNA region of interest panel</span></p><p><b>subject</b>: <a href=\"Bundle-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-2160525b-0168-4f40-8ebf-9b053052a62c\">Theon SHEFFIELD</a></p><p><b>effective</b>: 2026-07-13 10:37:26+0000</p><p><b>note</b>: </p><blockquote><div><p>ILLUSTRATIVE: represents that the digital PCR assay interrogated only the EGFR exon 20 T790M hotspot position (and, in a multiplexed panel, a small number of other named hotspots such as exon 19 deletions / L858R) — not the full coding sequence of EGFR. Unlike NGS, a negative dPCR result only rules out variants at the specific positions named here; it should not be read as 'EGFR negative' more broadly. Coordinate/region detail (start/end, genome build) is omitted from this illustrative example and should be populated from the assay's validated target list in a real implementation.</p>\n</div></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org HGNC:3236}\">EGFR</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/nuccore NM_005228.5}\">EGFR transcript NM_005228.5</span></p></blockquote></div>"
},
"identifier": [
{
"value": "a151b1ed-5aef-4c36-af50-987cfbd5bad4"
}
],
"status": "final",
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
"code": "GE",
"display": "Genetics"
}
]
}
],
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "53041-0",
"display": "DNA region of interest panel"
}
]
},
"subject": {
"reference": "urn:uuid:2160525b-0168-4f40-8ebf-9b053052a62c",
"display": "Theon SHEFFIELD"
},
"effectiveDateTime": "2026-07-13T10:37:26+00:00",
"note": [
{
"text": "ILLUSTRATIVE: represents that the digital PCR assay interrogated only the EGFR exon 20 T790M hotspot position (and, in a multiplexed panel, a small number of other named hotspots such as exon 19 deletions / L858R) — not the full coding sequence of EGFR. Unlike NGS, a negative dPCR result only rules out variants at the specific positions named here; it should not be read as 'EGFR negative' more broadly. Coordinate/region detail (start/end, genome build) is omitted from this illustrative example and should be populated from the assay's validated target list in a real implementation."
}
],
"component": [
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:3236",
"display": "EGFR"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "51958-7",
"display": "Transcript reference sequence [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.ncbi.nlm.nih.gov/nuccore",
"code": "NM_005228.5",
"display": "EGFR transcript NM_005228.5"
}
]
}
}
]
}
},
{
"fullUrl": "urn:uuid:13028359-6a38-4dff-8978-55a57dbdfb56",
"resource": {
"resourceType": "DocumentReference",
"id": "DocumentReference-ctDNA",
"meta": {
"profile": [
"https://fhir.nwgenomics.nhs.uk/StructureDefinition/DocumentReference"
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"DocumentReference_DocumentReference-ctDNA\"> </a><p class=\"res-header-id\"><b>Generated Narrative: DocumentReference DocumentReference-ctDNA</b></p><a name=\"DocumentReference-ctDNA\"> </a><a name=\"hcDocumentReference-ctDNA\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-DocumentReference.html\">DocumentReference</a></p></div><p><b>identifier</b>: <code>http://www.example.org/documentreference/identifier</code>/94bf65ba-cd6c-4601-b339-6d547f424646</p><p><b>status</b>: Current</p><p><b>type</b>: <span title=\"Codes:{http://snomed.info/sct 1054161000000101}\">Genetic report</span></p><p><b>subject</b>: <a href=\"Bundle-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-2160525b-0168-4f40-8ebf-9b053052a62c\">Theon SHEFFIELD</a></p><p><b>date</b>: 2025-10-14 15:59:16+0000</p><p><b>custodian</b>: NW GMSA (Identifier: <a href=\"NamingSystem-ods-organization-code-namingsystem.html\" title=\"The identifier system for an Organisation registered with the Organisation Data Service (ODS).\">ODS Organisation Code</a>/699X0)</p><blockquote><p><b>content</b></p><h3>Attachments</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ContentType</b></td><td><b>Url</b></td></tr><tr><td style=\"display: none\">*</td><td>application/pdf</td><td><a href=\"Bundle-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-d6eeedd1-92d3-45b9-bf33-6401e804425f\">Binary: application/pdf (845 bytes base64)</a></td></tr></table></blockquote><blockquote><p><b>context</b></p><p><b>event</b>: <span title=\"Codes:{https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory M4.14}\">Non-Small Cell Lung Cancer, Multi-target ctDNA combined Multi-target NGS panel, small variant (EGFR, ALK, BRAF, KRAS, MET exon 14 skipping and copy number variations) and structural variant (ROS1, RET, ALK, NTRK1, NTRK2, NTRK3, MET exon</span></p><p><b>period</b>: 2025-10-14 15:59:16+0000 --> 2025-10-14 15:59:16+0000</p><p><b>sourcePatientInfo</b>: Identifier: Medical record number/RXR3302855</p><p><b>related</b>: </p><ul><li><a href=\"Bundle-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-0a6ad8ec-b069-4a65-8c65-c7569d8413e3\">Diagnostic Report for 'Genetic report' for '->Theon SHEFFIELD'</a></li><li><a href=\"Bundle-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-6e26d6b3-490e-4348-9d6c-37281567d6ec\">ServiceRequest Non-Small Cell Lung Cancer, Multi-target ctDNA combined Multi-target NGS panel, small variant (EGFR, ALK, BRAF, KRAS, MET exon 14 skipping and copy number variations) and structural variant (ROS1, RET, ALK, NTRK1, NTRK2, NTRK3, MET exon</a></li></ul></blockquote></div>"
},
"identifier": [
{
"system": "http://www.example.org/documentreference/identifier",
"value": "94bf65ba-cd6c-4601-b339-6d547f424646",
"assigner": {
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "699X0"
}
}
}
],
"status": "current",
"type": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "1054161000000101",
"display": "Genetic report"
}
]
},
"subject": {
"reference": "urn:uuid:2160525b-0168-4f40-8ebf-9b053052a62c",
"identifier": {
"system": "https://fhir.nhs.uk/Id/nhs-number",
"value": "9737873858"
},
"display": "Theon SHEFFIELD"
},
"date": "2025-10-14T15:59:16+00:00",
"custodian": {
"type": "Organization",
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "699X0"
},
"display": "NW GMSA"
},
"content": [
{
"attachment": {
"contentType": "application/pdf",
"url": "urn:uuid:d6eeedd1-92d3-45b9-bf33-6401e804425f"
}
}
],
"context": {
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{
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