NHS North West Genomics
0.1.0 - ci-build
NHS North West Genomics, published by NHS North West Genomics. This guide is not an authorized publication; it is the continuous build for version 0.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/nw-gmsa/nw-gmsa.github.com/ and changes regularly. See the Directory of published versions
| Official URL: https://fhir.nwgenomics.nhs.uk/ExampleScenario/ClinicalAndGenomicWorkflow | Version: 0.1.0 | |||
| Draft as of 2026-02-04 | Computable Name: Clinical And Genomic Workflow | |||
Not validated - elaboration use only for potential future use with Gen-O
graph TD;
DiagnosticTesting[fas:fa-stethoscope Diagnostic Testing] --> |Creates| DiagnosticReport[Diagnostic Report]
DiagnosticReport --> |Reads Variant and DiagnosticImplication| Consultant[fas:fa-user-md Consultant]
DiagnosticReport --> |Reads Variant and DiagnosticImplication| GP[fas:fa-user-md GP]
EPR --> |GC1. Reads Variant and DiagnosticImplication| GeneticCounseling[fas:fa-user-md Genetic Counseling]
DiagnosticReport --> |Reads Genomic Study and Variant| Oncologist[fas:fa-user-md Oncologist]
DiagnosticReport --> |Is Persisted| GenomicCDR[fas:fa-database Genomic Clinical Data Repository]
DiagnosticReport --> |"Reads DiagnosticImplication (Condition) and Variant (Gene)"| Patient[fas:fa-user Patient]
Consultant --> |"Records Condition (from Diagnostic Implication)"| EPR[fas:fa-database Electronic Patient Record]
GP--> |"Records Condition (Genomic Disorder) <br/>or Observation (Genomic Disorder Carrier) <br/>based on Diagnostic Implication"| GPEPR[fas:fa-database GP Electronic Patient Record]
GeneticCounseling --> |GC2. Obtains Family Structure and History| Patient
GeneticCounseling --> |GC3. Records FamilyMemberHistory| EPR
Consultant --> |Asks for Genetic Counseling on Genetic Condition?| GeneticCounseling
This step creates the Genomics Test Report
Pre-conditions:
Genomic Testing has Completed
| Step | Name | Description | Initiator | Receiver | Request | Response |
|---|---|---|---|---|---|---|
| 1 | Variant NTHL1 is added to Genomic CDR - create (Details: FHIR Restful Interactions code create) | This step is performed by middleware - RIE |
Genomic Diagnostic Testing | Regional - Genomic Data Repository | Variant | |
| 2 | Diagnostic Implication Lynch Syndrome is added to Genomic CDR - create (Details: FHIR Restful Interactions code create) | This step is performed by middleware - RIE |
Genomic Diagnostic Testing | Regional - Genomic Data Repository | Diagnostic Implication |
This step reviews the Genomics Test Report
Pre-conditions:
Genomic Testing Received has been received
| Step | Name | Description | Initiator | Receiver | Request | Response |
|---|---|---|---|---|---|---|
| 3 | Condition Lynch Syndrome is added to Acute or Primary Care EPR - create (Details: FHIR Restful Interactions code create) | This step is assumed to be a manual entry |
Consultant | Electronic Patient Record | Condition |
This step acts on the Genomics Test Report
Pre-conditions:
A Task has been received to perform Genomic Counselling
| Step | Name | Description | Initiator | Receiver | Request | Response |
|---|---|---|---|---|---|---|
| 4 | Family History for Son Leeds is added to Genomic CDR - create (Details: FHIR Restful Interactions code create) | Probably Gen-O |
Genomic counsellor | Regional - Genomic Data Repository | FamilyMemberHistory Son | |
| 5 | Family History for Mother Nottingham is added to Genomic CDR - create (Details: FHIR Restful Interactions code create) | Probably Gen-O |
Genomic counsellor | Regional - Genomic Data Repository | FamilyMemberHistory Mother |
| Name | Type | Content | Description |
|---|---|---|---|
| Variant | Observation | TODO | |
|
here | TODO | |
| Diagnostic Implication | Observation | TODO | |
|
here | TODO | |
| Condition | Condition | TODO | |
|
here | TODO | |
| FamilyMemberHistory Son | FamilyMemberHistory | TODO | |
|
here | TODO | |
| FamilyMemberHistory Mother | FamilyMemberHistory | TODO | |
|
here | TODO |