NHS North West Genomics
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Use Case: ctDNA NHS England Unified Genomic Record (UGR)

ctDNA reports to the NHS England Unified Genomic Record (UGR) - future integration.

References

  1. NHS England - ctDNA UGR Solution Design (internal NHS England document, not publicly linked)
  2. 06 - EU Laboratory Report: FHIR Messages to a FHIR Document - Phase 2 worked example
  3. Regional Shared Care Records - the existing wire-tap this reuses
  4. HIE - Sharing Laboratory Reports (Document) - the IHE ITI-105/MDM_T02 pattern Phase 1 resembles
  5. OMICS DSS Result Integration - source of the Reportable Variant Observations Phase 2 combines with the report
  6. nw-gmsa/Testing - ctdna9737383222-eulab-document.json - Phase 2 example

Clinical Pathway Overview

What is being tested

This page is about making a copy of an existing ctDNA report discoverable nationally - it isn't about the test itself. The underlying test is the same ctDNA (circulating tumour DNA) blood test used to select or monitor targeted cancer treatment (for example the M4.14 Non-Small Cell Lung Cancer panel) - see NE&Y Management Information (ctDNA) for the clinical detail of what that test looks for.

The end-to-end clinical journey

  1. ctDNA test carried out - a patient has ctDNA testing as part of cancer diagnosis, treatment selection or monitoring, following the same journey as any other ctDNA test.
  2. Report reaches the ordering clinician - NW Genomics reports the result as usual.
  3. Copy shared to the national UGR - a copy of the report is also shared to the NHS England Unified Genomic Record: as a PDF with a discovery pointer (Phase 1), or as a structured FHIR Document combining the report with its Reportable Variants (Phase 2).
  4. Discoverable elsewhere - if the patient is later seen at a different NHS organisation, an authorised clinician there - not just the original ordering team - can discover and view the report via the National Record Locator.
flowchart LR
    A[ctDNA test carried out] --> B[Report reaches<br/>ordering clinician]
    B --> C[Copy shared to<br/>national UGR]
    C --> D[Discoverable by other<br/>NHS organisations<br/>via NRL]

Why this matters for developers

  • This is a copy/sharing mechanism layered on top of the existing report - it doesn't change how the test is ordered or reported to the originating clinician.
  • Phase 1 shares only the PDF and minimal metadata; Phase 2 additionally shares the structured Reportable Variant data - see Future Process below for what that difference means for a receiving clinician.

Actors

IHE Actor Role
Order Filler iGene (NW Genomics master LIMS) - originates the LAB-3 report that is wire-tapped
Order Placer NHS Trust - the original recipient of the LAB-3 report
Intermediary / Document Publisher Regional Integration Engine (RIE) - wire-taps LAB-3/ORU_R01, builds the document and publishes it to the national solution
Resource Access Provider FHIR Repository - source of the Reportable Variant Observations Phase 2 combines with the report
Document Access Provider / Document Consumer NHS England Genomics Core Broker / Unified Genomic Record (UGR) / National Record Locator (NRL) - national solution: stores the report, indexes and registers a discovery pointer (Document Access Provider), and is itself the initial recipient of the RIE's published document (Document Consumer)

Transactions

Transaction Description Direction
Wire-tap on LAB-3/ORU_R01, similar to HL7 v2 MDM_T02 (could become IHE ITI-105 FHIR) RIE converts the wire-tapped report into a DiagnosticReport with an embedded PDF (Phase 1) RIE → NHS England Genomics Core Broker
FHIR Document (Bundle type document) RIE combines the wire-tapped report with Reportable Variant Observations and wraps the result in an HL7 Europe Laboratory Report FHIR Document (Phase 2) RIE → NHS England Genomics Core Broker
National processing (summarised only) The Core Broker stores the report/PDF in the UGR and registers a DocumentReference pointer with the National Record Locator (NRL) Core Broker → UGR / NRL
HL7 v2 ORU_R01 (future, proposed NW Genomics service) Converts a stored ctDNA report (Phase 1 or 2) back into an ORU_R01, reusing the established LAB-3 feed UGR → RIE → NHS Trust

Current Process

There is currently no integration with the NHS England Unified Genomic Record (UGR). ctDNA Laboratory Reports (LAB-3) are distributed to NHS Trusts as usual - see Regional Integration Engine (RIE) - Current Process. The same LAB-3 wire-tap used for Regional Shared Care Records does not yet extend to the UGR; this page describes the two planned phases for adding that feed.

Future Process

Phase 1: PDF Report + NRL Pointer

The RIE (also acting as Document Publisher here, the same role it plays on Regional Shared Care Records) wire-taps the LAB-3/ORU_R01 feed (the same wire-tap already used for Regional Shared Care Records - see that page for the existing filter/convert process this reuses) and converts it into a DiagnosticReport with the report PDF embedded as an attachment. This is sent to the NHS England Genomics Core Broker - at a high level this is similar to both HL7 v2 MDM_T02 and IHE ITI-105 (Simplified Publish); ITI-105, being FHIR-based, could in principle be used instead of a bespoke feed.

The Core Broker (a national component, summarised only - see References for the NHS England solution design) verifies the patient, stores the PDF and report metadata in the UGR, and converts the report into a DocumentReference pointer registered with the National Record Locator (NRL), making it discoverable by other care settings.

sequenceDiagram
    participant iGene as iGene<br/>Order Filler
    participant Trust as NHS Trust<br/>Order Placer
    participant RIE as RIE<br/>Intermediary / Document Publisher
    participant Broker as NHS England Genomics Core Broker<br/>Document Access Provider / Document Consumer
    participant UGR as UGR / NRL<br/>(national, summarised)

    iGene ->> RIE: LAB-3 Report (ORU_R01)
    RIE ->> Trust: LAB-3 Report (ORU_R01)
    RIE ->> RIE: Wire-tap ORU_R01,<br/>convert to DiagnosticReport + embedded PDF
    RIE ->> Broker: DiagnosticReport (PDF)<br/>similar to MDM_T02 / IHE ITI-105
    Broker ->> UGR: Store PDF + metadata,<br/>register NRL DocumentReference pointer

Phase 2: Structured FHIR Document (EU Laboratory Report)

Phase 2, elaborated in notebook 06 - EU Laboratory Report: FHIR Messages to a FHIR Document, again wire-taps the LAB-3/ORU_R01 feed, but this time the RIE also retrieves the linked Reportable Variant Observations (see OMICS DSS Result Integration) from the FHIR Repository and combines them with the report. The result is wrapped in an HL7 Europe Laboratory Report FHIR Document - a Composition-led Bundle of type document - and sent to the national solution, corresponding to the "Future Composition / Aggregated Laboratory Report" placeholder in overview.md.

sequenceDiagram
    participant iGene as iGene<br/>Order Filler
    participant Trust as NHS Trust<br/>Order Placer
    participant RIE as RIE<br/>Intermediary / Document Publisher
    participant FHIRRepo as FHIR Repository<br/>Resource Access Provider
    participant Broker as NHS England Genomics Core Broker<br/>Document Access Provider / Document Consumer
    participant UGR as UGR / NRL<br/>(national, summarised)

    iGene ->> RIE: LAB-3 Report (ORU_R01)
    RIE ->> Trust: LAB-3 Report (ORU_R01)
    RIE ->> RIE: Wire-tap ORU_R01
    RIE ->> FHIRRepo: Retrieve linked<br/>Reportable Variant Observations
    FHIRRepo -->> RIE: Reportable Variants
    RIE ->> RIE: Combine report + variants into<br/>HL7 Europe Laboratory Report FHIR Document
    RIE ->> Broker: FHIR Document (Bundle type=document)
    Broker ->> UGR: Store + register NRL pointer<br/>(national, summarised)

Future: Converting UGR Reports back to ORU_R01

It is likely that NHS Trusts' EPRs will continue to require ORU_R01 for the foreseeable future, so there is likely to be a need to convert ctDNA reports - from either phase - back into ORU_R01. This conversion, and delivery of the resulting LAB-3 report, is potentially a service NW Genomics could provide for NHS Trusts, reusing the established LAB-3 feed already used to distribute reports (see overview.md).

Data Models

The DocumentReference NRL pointer is a national NHS England resource, registered by the Core Broker - not a resource this IG defines or produces.

Examples

Phase Example Source
Phase 2 Bundle-ctdna9737383222-eulab-document ctdna9737383222-eulab-document.json

No Phase 1 example (DiagnosticReport with embedded PDF) is published yet for this scenario.

Security Considerations

Includes:

Developer Guides

See Developer Guides for the full notebook series.