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
Cancer Background Information for Use Cases is a high-level page that pulls together several of this IG's other diagnostic testing and treatment-monitoring use cases - a genomics test following on from a pathology test order can often occur around cancer, and cancer referrals bring their own notification patterns. Rather than a single pathway, this page follows the same simple three-stage structure Macmillan Cancer Support uses on macmillan.org.uk/cancer-information-and-support - Diagnosis, Treatment, and After Treatment - and shows where genomic/genetic testing fits within each, using worked examples from the Cheshire and Merseyside Pathology and Haemato-Oncology Diagnostic Pathway use cases.
This page illustrates three separate clinical pathways, each showing where genomic/genetic testing fits within a patient's wider cancer journey - see Current Process below for the full Diagnosis/Treatment/After Treatment breakdown of each:
| IHE Actor | Role |
|---|---|
| Order Placer / Order Result Tracker | Primary Treatment Centre (PTC) - requests testing, acts on results |
| (no IHE actor defined for this role yet) | Community Nurse / POSCU - specimen collection, notification relay |
| Order Filler | Laboratory - performs testing, writes laboratory report |
This page is cross-cutting narrative rather than its own transaction set - see the
LAB-1/LAB-3/LAB-35/LAB-36 transactions on
Cheshire and Merseyside Pathology and
Haemato-Oncology Diagnostic Pathway for the
underlying genomics ordering transactions these cancer pathways occur within.
Genomic and genetic testing does not happen at just one point in a cancer pathway - it can help confirm a diagnosis, choose or adjust treatment, and watch for the cancer coming back afterwards. The three sections below follow Macmillan's own structure for cancer information and support, so a family carer or patient reading this alongside a Macmillan guide can see where the genomic/genetic testing fits in the wider picture.
flowchart LR
D["Diagnosis"] --> T["Treatment"] --> A["After Treatment"]
D -.-> D1["Colorectal Cancer<br/>diagnostic pathway"]
T -.-> T1["NHS North West<br/>Children Cancer"]
A -.-> A1["ctDNA monitoring<br/>pathway"]
classDef blue fill:#DAE8FC;
class T,A blue
Macmillan - Diagnosis covers what happens when cancer is suspected and how a diagnosis is confirmed. Genomic testing at this stage usually looks at the tumour sample itself, to help confirm the diagnosis and check for an inherited condition that could run in the family.
The details of this are beyond the scope of this guide, for more details see Getting It Right First Time (GIRFT) Best Practice Timed Diagnostic Cancer pathways . The diagram below is a simplified view of the same journey, in the style of a Macmillan cancer information guide:
flowchart LR
A["Symptoms or a<br/>screening result"] --> B["GP referral"]
B --> C["Colonoscopy<br/>and biopsy"]
C --> D["Pathology confirms<br/>colorectal cancer"]
D --> E["Genomic test on the<br/>tumour sample<br/>e.g. Lynch syndrome screening"]
E -->|"Inherited pattern found"| F["Genetic counselling for<br/>patient and family"]
E --> G["Result helps plan<br/>treatment"]
Underneath that simplified view, each step is really a closed-loop referral - a request goes out, and a report or result comes back to whoever made the request, before the next step begins:
REF_I12. The resulting hospital outpatient/clinic report is returned to the GP via MESH (in the "Kettering" EDT/XML format many GP systems still expect) or, increasingly, the NHS England Transfer of Care standard. Discharge summaries and hospital reports sent this way often use HL7 v2 MDM_T02 or ORU_R01.RAD-2, OMG^O19) and Imaging Report (RAD-28, ORU_R01).LAB-1) is placed with the pathology lab, and a Laboratory Report (LAB-3) is returned.LAB-1) is placed with the genomics lab, and a Laboratory Report (LAB-3) is returned.REF_I12), and may include orders for other family members (consultands), not just the patient (proband), as described in Distributed WGS (dWGS)'s Family Structure/Participant Type pattern. This referral cannot use eRS in the same way the initial GP referral does - eRS is only available to GPs, so a referral from Genomics/Genetic Counselling (a hospital-based service) to arrange counselling has to use a different mechanism.This still follows the generic clinical process (Assessment, Diagnosis, Plan, Implement, Evaluate - "ADPIE") described in LTW - Clinical Process, with diagnostic testing (colonoscopy, imaging, pathology, genomics) as the embedded supporting workflow each time more evidence is needed. The diagram below uses the same colour scheme as that ADPIE diagram, so the two can be read side by side:
flowchart LR
GP["GP"] -->|"Referral via NHS eRS<br/>(IHE 360X / REF_I12)"| Hosp["Hospital<br/>outpatient clinic"]
Hosp -->|"Hospital report<br/>(MESH/Kettering XML or<br/>NHS Transfer of Care -<br/>MDM_T02 / ORU_R01)"| GP
Hosp --> Colo["Colonoscopy"]
Colo -->|"Imaging Order (RAD-2)<br/>OMG^O19"| Img["Imaging"]
Img -->|"Imaging Report (RAD-28)<br/>ORU_R01"| Colo
Colo -->|"Laboratory Order (LAB-1)"| Path["Pathology"]
Path -->|"Laboratory Report (LAB-3)"| Colo
Path -->|"Laboratory Order (LAB-1)"| Gen["Genomics"]
Gen -->|"Laboratory Report (LAB-3)"| Path
Gen -->|"Referral, not via eRS<br/>(IHE 360X / REF_I12) -<br/>may include family/<br/>consultand orders"| Couns["Genetic Counselling"]
Path --> MDT["Multi-Disciplinary<br/>Team (MDT)"]
Gen --> MDT
MDT --> Plan["Care Plan"]
Hosp -.->|"ITI-105"| SCR["Shared Care Record<br/>e.g. GMCR, Lancashire<br/>and South Cumbria"]
Img -.->|"ITI-105"| SCR
Path -.->|"ITI-105"| SCR
Gen -.->|"ITI-105"| SCR
Couns -.->|"ITI-105"| SCR
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classDef yellow fill:#FFF2CC;
classDef pink fill:#F8CECC;
classDef green fill:#D5E8D4;
classDef blue fill:#DAE8FC;
classDef orange fill:#FFE6CC;
class GP,Hosp pink
class Colo,Img,Path,Gen purple
class Couns yellow
class MDT,Plan green
Each closed-loop referral above only shares its report with the two parties involved. Ideally, every report on this pathway - hospital/discharge reports, the report from genetic counselling, laboratory reports, and imaging reports - would instead be visible to all clinicians currently involved in the patient's care, and to any consultant who sees the patient in future. This is best achieved via shared care record systems, such as the Lancashire and South Cumbria Genomic Reports and Regional Shared Care Records feeds, and the National Record Locator (NRL) service - this group of shared care record systems is associated with the IHE XDS, MHD and MHDS profiles (see Health Data API (EURDICE)).
This elaboration also relates to Inherited MMR deficiency (Lynch syndrome) - R210, a genomic test that can be requested on this pathway - see that section for the full set of Genomics, Patient Care and Genetic Counseling examples (Diagnostic Implication, Condition, FamilyMemberHistory, etc.) built around it.
For information on Genomic Tests on the bowel cancer cells, see macmillan.org.uk and NICE DG27 Molecular testing strategies for Lynch syndrome in people with colorectal cancer
The genetic counselling referral above assumes the patient and their at-risk relatives (consultands) all live in the same catchment as the diagnosing genomics/genetics service. In practice a relative may live under a different regional clinical genetics service - for example, a patient diagnosed in Liverpool whose relatives live in Nottingham and Leeds. There is no national system linking clinical genetics services across regions for this, so the diagnosing service instead sends a family letter - a clinical letter summarising the variant, the inheritance pattern and the relatives thought to be at risk - to each relative's GP or directly to the regional genetics service covering them, inviting a local referral for cascade (predictive) testing. A relative within the diagnosing service's own catchment (e.g. another relative living locally in Liverpool) is typically seen directly by that service instead.
flowchart LR
LivG["Liverpool Clinical<br/>Genetics (diagnosing service)"] -->|"Family letter"| NottG["Nottingham Regional<br/>Genetics Service"]
NottG -->|"Cascade/predictive<br/>test arranged locally"| RelN["Mother<br/>(Nottingham)"]
LivG -->|"Family letter"| LeedsG["Leeds Regional<br/>Genetics Service"]
LeedsG -->|"Cascade/predictive<br/>test arranged locally"| RelL["Son<br/>(Leeds)"]
LivG -->|"Seen directly -<br/>same catchment"| RelLiv["Other relative<br/>(Liverpool)"]
This inter-service handoff is an informal clinical convention rather than a defined referral pathway or transaction: the family letter travels by NHS.net secure email or dictated hospital correspondence (the same generic mechanisms as any inter-trust referral), not via eRS or a genetics-specific message type, and it does not carry structured/coded variant data - the receiving service re-keys the details to order the relative's targeted single-variant test. It also falls outside the shared care record feeds described below, since those are regional/ICB-scoped and won't bridge two different clinical genetics services. See Genetic Referrals for an information/analysis-only look at what a more structured, closed-loop version of this referral (and its report back) could look like.
This is already the scenario modelled by the Inherited MMR deficiency (Lynch syndrome) - R210 worked example: Patient LIVERPOOL is diagnosed with Lynch syndrome from a genomic study, a diagnostic implication and an NTHL1 variant, recorded as a Condition. The same example already includes two FamilyMemberHistory resources for consultands under different regional genetics services - a mother in Nottingham and a son in Leeds
What happens after the genetic counselling referral (and any cascade testing) is not a separate genomics-specific process - it is the same generic clinical process described in LTW - Clinical Process: Assessment, Diagnosis, Plan, Implement/Interventions, Evaluate ("ADPIE"), cycling round again as needed. Diagnostic testing - including the colonoscopy, imaging, pathology and genomics steps above - is the supporting workflow embedded within that cycle whenever the clinical team needs more evidence.
graph TD;
A[Assessment]-->|Creates Observations| B;
A--> |"Orders (LAB-1)"| T;
T[Diagnostic Testing<br/>colonoscopy, imaging,<br/>pathology, genomics] --> |"Diagnostic Report (LAB-3)"| A
B[Diagnosis<br/>e.g. Lynch syndrome confirmed]-->|Creates Condition| C;
C[Plan<br/>MDT / Care Plan]-->|Creates Goals and Tasks| D;
D[Implement/Interventions<br/>e.g. surveillance, surgery]-->|Actions Tasks| E;
D --> |"Monitoring<br/>Orders (LAB-1)"| T;
T --> |"Monitoring<br/>Diagnostic Report (LAB-3)"| D
E[Evaluate]--> |Reviews Care| A;
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classDef yellow fill:#FFF2CC;
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classDef green fill:#D5E8D4;
classDef blue fill:#DAE8FC;
classDef orange fill:#FFE6CC;
class A pink
class B yellow
class C green
class D blue
class E orange
class T purple
Macmillan - Treatment covers the different types of cancer treatment and what to expect. During treatment, blood tests and other laboratory results are used regularly to check how a patient is responding and to guide medicine doses - keeping results flowing quickly and accurately between the hospital, community teams and the laboratory matters just as much as the test itself.
Note: This example is a pathology (blood test) example, not necessarily a genomic one - it is included as background information to illustrate the wider testing and notification processes a child on a cancer pathway goes through. The blood testing processes used for adults may not be as distributed as this example. The blood test itself may also link into ctDNA testing, which likewise starts with a blood sample - see the ctDNA Monitoring Pathway under After Treatment below.
The diagram below is a simplified view of the same as-is process, showing how a blood test result reaches everyone who needs to see it and act on it:
flowchart LR
PTC["Hospital treatment team<br/>(PTC)"] -->|"Requests blood test"| Nurse["Community nurse or<br/>POSCU"]
Nurse -->|"Takes blood sample"| Lab["Laboratory"]
Lab -->|"Sends result"| Nurse
Lab -->|"Sends result"| PTC
Nurse -->|"Confirms result received"| PTC
PTC -->|"May adjust<br/>treatment plan"| Child(("Child and family"))
PTC -->|"Tells local team about<br/>any change"| Nurse
(From North West Children Cancer. This is centred around laboratory tests, genomic tests will have similar notification systems)
Macmillan - After Treatment covers follow-up care once treatment finishes, including watching for signs the cancer may be coming back. One newer approach is testing a blood sample for tiny traces of tumour DNA circulating in the blood - often called "ctDNA" or a "liquid biopsy" - which can pick up early warning signs without needing a further scan or biopsy of the tumour itself.
This is a simplified view of the ctDNA NHS England Unified Genomic Record (UGR) use case, framed as a patient follow-up pathway rather than a system integration:
This follows the same ADPIE clinical process as the colorectal pathway above, using the same colour scheme:
flowchart LR
A["Treatment finishes"] --> B["Follow-up blood test<br/>('liquid biopsy')"]
B --> C["ctDNA test looks for<br/>trace tumour DNA"]
C -->|"None found"| D["Continue routine<br/>follow-up care"]
C -->|"Found"| E["Specialist review -<br/>possible early sign<br/>cancer is returning"]
E --> F["Further scans or<br/>tests arranged"]
E --> MDT["Multi-Disciplinary<br/>Team (MDT)"]
MDT --> Plan["Care Plan"]
classDef purple fill:#E1D5E7;
classDef pink fill:#F8CECC;
classDef green fill:#D5E8D4;
classDef orange fill:#FFE6CC;
class B,C,F purple
class E pink
class D orange
class MDT,Plan green
As with the colorectal pathway above, planning and monitoring of ongoing or follow-up treatment is often coordinated by a Multi-Disciplinary Team (MDT), who may produce a Care Plan in response to the ctDNA result.
The underlying test result is a genomic report produced by NW Genomics and shared nationally via the ctDNA NHS England Unified Genomic Record (UGR) use case, drawing on the discrete result values (variant Observations) described in OMICS DSS Result Integration.
No distinct future-state changes are currently defined for the Diagnosis or Treatment pathways above. The After Treatment ctDNA monitoring pathway is itself a future integration - see ctDNA NHS England Unified Genomic Record (UGR) for its planned phases.
ExampleScenario-BiopsyProcedure documents the specimen collection process (day case admission, biopsy procedure) for a real patient on this Colorectal Cancer pathway in the North Midlands - background information on how the specimen behind a genomic test order is actually obtained, not itself part of this genomic specification.
Includes:
No Developer Guides notebook covers this use case yet.