NHS North West Genomics
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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

Example Bundle: Bundle 'Message' - Genomics Report ctDNA R01

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 DetailSPITAL STREET SHEFFIELD S3 9LB (home)
Links:

Entry 3 - fullUrl = urn:uuid:0a6ad8ec-b069-4a65-8c65-c7569d8413e3

Resource DiagnosticReport:

version: 1.0; Language: en

Profile: Diagnostic Report

Genetic report (Genetics)

SubjectTheon SHEFFIELD (official) Male, DoB: 1986-09-12 ( Patient internal identifier)
Relevant Time2025-10-14 15:59:16+0000
Performer NW GMSA (Identifier: ODS Organisation Code/699X0)
Identifier https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier/T26-59XG
Presented Form application/pdf @ urn:uuid:d6eeedd1-92d3-45b9-bf33-6401e804425f icon

Report Details

CodeValueFlagsNoteRelevant Time
Genetic variant assessmentPresentFinal

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 panelFinal

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

specimen: Specimen: identifier = Filler Identifier; status = available; type = Blood specimen; receivedTime = 2026-06-30


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