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
Language: en
Profile: Bundle - FHIR Messaging
Bundle GenomicsReportMessage-ctDNA of type message
Entry 1 - fullUrl = urn:uuid:d63688c2-cd33-4cf1-8189-5cc2020333a3
Resource MessageHeader:
Last updated: 2026-07-13 10:39:26+0000; Language: en
Profile: Document Message (MessageHeader)
event: event: R01 (ORU/ACK - Unsolicited transmission of an observation message)
Destinations
Receiver NEY GMSA (Identifier: ODS Organisation Code/699N0) sender: Identifier: ODS Organisation Code/699X0
Sources
Software NW GMSA focus: Diagnostic Report for 'Genetic report' for '->Theon SHEFFIELD'
Entry 2 - fullUrl = urn:uuid:2160525b-0168-4f40-8ebf-9b053052a62c
Resource Patient:
Language: en
Profile: Patient
Theon SHEFFIELD (official) Male, DoB: 1986-09-12 ( Patient internal identifier)
Active: true Other Id: National Health Plan Identifier/9737873858 (use: official, ) Contact Detail SPITAL STREET SHEFFIELD S3 9LB (home) Links:
- General Practitioner: Sheffield Medical Centre (Identifier: ODS Organisation Code/C88622)
Entry 3 - fullUrl = urn:uuid:0a6ad8ec-b069-4a65-8c65-c7569d8413e3
Resource DiagnosticReport:
version: 1.0; Language: en
Profile: Diagnostic Report
Genetic report (Genetics)
Subject Theon SHEFFIELD (official) Male, DoB: 1986-09-12 ( Patient internal identifier) Relevant Time 2025-10-14 15:59:16+0000 Performer NW GMSA (Identifier: ODS Organisation Code/699X0) Identifier https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier/T26-59XGPresented Form application/pdf @ urn:uuid:d6eeedd1-92d3-45b9-bf33-6401e804425f Report Details
Code Value Flags Note Relevant Time Genetic variant assessment Present Final 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.
2026-07-13 10:37:26+0000 DNA region of interest panel Final 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.
2026-07-13 10:37:26+0000 Coded Conclusions:
- TARGET DETECTED AT A LEVEL REQUIRING CLINICAL ACTION
Entry 4 - fullUrl = urn:uuid:6e26d6b3-490e-4348-9d6c-37281567d6ec
Resource ServiceRequest:
version: 1.0; Language: en
Profile: ServiceRequest
identifier: Filler Identifier/T26-59XG
requisition: Placer Group Number/R26-15AY
status: Active
intent: Order
category: Molecular genetics procedure
code: No display for ServiceRequest.code (concept: 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))
subject: Theon SHEFFIELD
requester: PractitionerRole: specialty = General Surgery
performer: Identifier: ODS Organisation Code/699X0
Entry 5 - fullUrl = urn:uuid:4446ab81-35ef-49cb-b2fe-1d6f1a0dcc02
Resource PractitionerRole:
Language: en
Profile: PractitionerRole
practitioner: Sheffield Lung Doctor (Identifier: GMC Number/C9999998)
organization: Identifier: ODS Organisation Code/RHQ
specialty: General Surgery