NHS North West Genomics
0.0.8 - ci-build United Kingdom flag

NHS North West Genomics, published by NHS North West Genomics. This guide is not an authorized publication; it is the continuous build for version 0.0.8 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

ExampleScenario: Clinical and Genomic Workflow

Official URL: https://fhir.nwgenomics.nhs.uk/ExampleScenario/ClinicalAndGenomicWorkflow Version: 0.0.8
Draft as of 2025-10-30 Computable Name: Clinical And Genomic Workflow

Actors

NameTypeDescription
Genomic Diagnostic Testing System

TODO

Genomic counsellor System

TODO

Regional - Genomic Data Repository System

Clinical Data Repository

Consultant System

Primary Care doctor or Secondary Care Consultant

Electronic Patient Record System

Diagram

​Clinical And Genomic WorkflowGenomic Diagnostic TestingGenomic Diagnostic TestingGenomic counsellorGenomic counsellorRegional - Genomic Data RepositoryRegional - Genomic Data RepositoryConsultantConsultantElectronic Patient RecordElectronic Patient RecordCreate Diagnostic Testing ReportdetailsVariant NTHL1 is added to Genomic CDR(payload)Diagnostic Implication Lynch Syndrome is added to Genomic CDR(payload)Review Diagnostic Testing ReportdetailsCondition Lynch Syndrome is added to Acute or Primary Care EPR(payload)Perform Genomic CounsellingdetailsFamily History for Son Leeds is added to Genomic CDR(payload)Family History for Mother Nottingham is added to Genomic CDR(payload)

Processes

Process: Create Diagnostic Testing Report

This step creates the Genomics Test Report

Pre-conditions:

Genomic Testing has Completed

StepNameDescriptionInitiatorReceiverRequestResponse
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
Process: Review Diagnostic Testing Report

This step reviews the Genomics Test Report

Pre-conditions:

Genomic Testing Received has been received

StepNameDescriptionInitiatorReceiverRequestResponse
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
Process: Perform Genomic Counselling

This step acts on the Genomics Test Report

Pre-conditions:

A Task has been received to perform Genomic Counselling

StepNameDescriptionInitiatorReceiverRequestResponse
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

Instances

NameTypeContentDescription
Variant Observation

TODO

  • Variant NTHL1
 here

TODO

Diagnostic Implication Observation

TODO

  • Diagnostic Implication Lynch syndrome
 here

TODO

Condition Condition

TODO

  • Condition Lynch syndrome
 here

TODO

FamilyMemberHistory Son FamilyMemberHistory

TODO

  • FamilyMemberHistory Ricky LEEDS
 here

TODO

FamilyMemberHistory Mother FamilyMemberHistory

TODO

  • FamilyMemberHistory Sarah-Jane NOTTINGHAM
 here

TODO