NHS North West Genomics
2.2.0 - ci-build
NHS North West Genomics
2.2.0 - ci-build
NHS North West Genomics - Local Development build (v2.2.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
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{
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"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>"
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{
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"subject" : {
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"display" : "Theon SHEFFIELD"
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"date" : "2025-10-14T15:59:16+00:00",
"author" : [
{
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"system" : "https://fhir.nhs.uk/Id/ods-organization-code",
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"display" : "North West Genomics"
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"title" : "Composition Genomics Report ctDNA",
"section" : [
{
"title" : "Presented Format",
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"coding" : [
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"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>"
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{
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{
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{
"title" : "Findings",
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"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>"
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{
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"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><ul><li>Genomics Implications</li></ul>See PDF</div>"
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{
"fullUrl" : "urn:uuid:2160525b-0168-4f40-8ebf-9b053052a62c",
"resource" : {
"resourceType" : "Patient",
"id" : "Patient-Sheffield",
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"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\u00a0(use:\u00a0official,\u00a0)</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>"
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"system" : "https://fhir.nhs.uk/Id/nhs-number",
"value" : "9737873858"
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"code" : "PI"
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},
"value" : "336292",
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"name" : [
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"gender" : "male",
"birthDate" : "1986-09-12",
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"SPITAL STREET"
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"postalCode" : "S3 9LB"
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"generalPractitioner" : [
{
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"display" : "Sheffield Medical Centre"
}
]
}
},
{
"fullUrl" : "urn:uuid:6e26d6b3-490e-4348-9d6c-37281567d6ec",
"resource" : {
"resourceType" : "ServiceRequest",
"id" : "ServiceRequest-ctDNA",
"meta" : {
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"language" : "en",
"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 14 skipping)</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}\">Non-Small Cell Lung Cancer</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>"
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"value" : "T26-59XG",
"assigner" : {
"identifier" : {
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],
"requisition" : {
"type" : {
"coding" : [
{
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"code" : "PGN"
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]
},
"system" : "https://fhir.nwgenomics.nhs.uk/iGene/ReferralIdentifier",
"value" : "R26-15AY",
"assigner" : {
"identifier" : {
"system" : "https://fhir.nhs.uk/Id/ods-organization-code",
"value" : "699X0"
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},
"status" : "active",
"intent" : "order",
"category" : [
{
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "116148004",
"display" : "Molecular genetics procedure"
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]
}
],
"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" : [
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"specimen" : [
{
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}
},
{
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"resource" : {
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"id" : "4446ab81-35ef-49cb-b2fe-1d6f1a0dcc02",
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🔗 "https://fhir.nwgenomics.nhs.uk/StructureDefinition/PractitionerRole"
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},
"language" : "en",
"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"
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},
"specialty" : [
{
"coding" : [
{
"system" : "https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode",
"code" : "100"
}
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}
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}
},
{
"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"
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},
"language" : "en",
"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"
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},
"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"
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},
"language" : "en",
"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>"
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"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 83005-9}\">Variant category</span></p><p><b>value</b>: <span title=\"Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/IGeneVariantCategory SEQV}\">Sequence Variant</span></p></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 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>"
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"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."
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"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>"
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"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 14 skipping)</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 14 skipping)</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" : {
"event" : [
{
"coding" : [
{
"system" : "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
"code" : "M4.14"
}
]
}
],
"period" : {
"start" : "2025-10-14T15:59:16+00:00",
"end" : "2025-10-14T15:59:16+00:00"
},
"sourcePatientInfo" : {
"identifier" : {
"type" : {
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
"code" : "MR"
}
]
},
"value" : "RXR3302855",
"assigner" : {
"identifier" : {
"system" : "https://fhir.nhs.uk/Id/ods-organization-code",
"value" : "RHQ"
}
}
}
},
"related" : [
{
"reference" : "urn:uuid:0a6ad8ec-b069-4a65-8c65-c7569d8413e3",
"type" : "DiagnosticReport",
"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"
}
}
}
},
{
"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"
}
}
}
}
]
}
}
},
{
"fullUrl" : "urn:uuid:d6eeedd1-92d3-45b9-bf33-6401e804425f",
"resource" : {
"resourceType" : "Binary",
"id" : "Binary-Sample",
"meta" : {
"profile" : [
🔗 "https://fhir.nwgenomics.nhs.uk/StructureDefinition/Binary"
]
},
"language" : "en",
"contentType" : "application/pdf",
"data" : "JVBERi0xLjQKMSAwIG9iago8PC9UeXBlIC9DYXRhbG9nCi9QYWdlcyAyIDAgUgo+PgplbmRvYmoK MiAwIG9iago8PC9UeXBlIC9QYWdlcwovS2lkcyBbMyAwIFJdCi9Db3VudCAxCj4+CmVuZG9iagozIDAgb2JqCjw8L1R5cGUgL1BhZ2UKL1BhcmVudCAyIDAgUgovTWVkaWFCb3ggWzAgMCA1OTUgODQy XQovQ29udGVudHMgNSAwIFIKL1Jlc291cmNlcyA8PC9Qcm9jU2V0IFsvUERGIC9UZXh0XQovRm9udCA8PC9GMSA0IDAgUj4+Cj4+Cj4+CmVuZG9iago0IDAgb2JqCjw8L1R5cGUgL0ZvbnQKL1N1YnR5 cGUgL1R5cGUxCi9OYW1lIC9GMQovQmFzZUZvbnQgL0hlbHZldGljYQovRW5jb2RpbmcgL01hY1JvbWFuRW5jb2RpbmcKPj4KZW5kb2JqCjUgMCBvYmoKPDwvTGVuZ3RoIDUzCj4+CnN0cmVhbQpCVAov RjEgMjAgVGYKMjIwIDQwMCBUZAooRHVtbXkgUERGKSBUagpFVAplbmRzdHJlYW0KZW5kb2JqCnhyZWYKMCA2CjAwMDAwMDAwMDAgNjU1MzUgZgowMDAwMDAwMDA5IDAwMDAwIG4KMDAwMDAwMDA2MyAw MDAwMCBuCjAwMDAwMDAxMjQgMDAwMDAgbgowMDAwMDAwMjc3IDAwMDAwIG4KMDAwMDAwMDM5MiAwMDAwMCBuCnRyYWlsZXIKPDwvU2l6ZSA2Ci9Sb290IDEgMCBSCj4+CnN0YXJ0eHJlZgo0OTUKJSVFT0YK"
}
}
]
}