North West Genomic Medicine Service Alliance
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DRAFT Implementation Guide

This is for collaboration and discussion purposes and is subject to change.

North West Genomic Medicine Service Alliance - Local Development build (v0.0.1) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

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Official URL: https://nw-gmsa.github.io/ImplementationGuide/nw-gmsa.github.io Version: 0.0.1
Draft as of 2025-06-19 Computable Name: NWGMSA_IHELTW

Introduction

This guide is to support Genomic Testing Workflow at a regional level and is designed to be compatible with:

Out of Area Communication (Future)Intermediary NHS England GemonicOrder Management ServiceOrder Placer e.g. EPR, Pathology LIMSOrder Filler External GLH LIMSOrder Result Tracker e.g. EPROrder Placer e.g. EPR, Pathology LIMSOrder Filler NW GLH LIMSOrder Result Tracker e.g. EPRIntermediary NW GLH Regional Integration EngineOrdersOrdersOrders andReportsReportsReportsOrders andReports

Regional Integration Engine Scope


This guide follows IHE Laboratory Testing Workflow, which describes how to use HL7 v2 orders and reports at an enterprise level. It will contain several modifications in order to support HL7 FHIR Messasging, these messages will be closely related to HL7 v2 Messages to help with adoption. For documentation purposes, HL7 v2 version used will be 2.5.1 (this also matches NHS England FHIR Genomics, HL7 International v2 standards around structured Genomic reporting and Digital Health and Care Wales standards around ORU_R01)

GLH Regional Integration Engine (GLH RIE)

This implementation guide will be supported by a Genomics Regional Integration Engine (RIE) which will:

  • Message Routing to deliver orders and reports to the regional GLH (and in the future national GLH’s).
  • Message Translation to
    • LAB-1 converts HL7 FHIR based orders to HL7 v2 Messages (for Order Placer (local GLH))
    • LAB-3 converts HL7 v2 based results (from Order Placer (local GLH)) to HL7 FHIR Messages
  • Message Bridge between regional Trust Integration Engines (TIE)/GLH Laboratory Information System (LIMS) and the national Genomic Order Management Service (LAB-4 and LAB-5)
  • May contain a Structured Reporting Message Translation to convert HL7 v2 ORU_R01 structured reports to a HL7 Europe Laboratory Report to replace the use of PDF reports.

Testing

This implementation guide will also enable use of FHIR Testing tools such as Command Line FHIR Validation and Online FHIR Validation

SNOMED CT

UK edition of SNOMED (83821000000107)

Dependencies

IGPackageFHIRComment
.. North West Genomic Medicine Service Alliancenw-gmsa.github.io#0.0.1R4
... HL7 Terminology (THO)hl7.terminology.r4#6.4.0R4Automatically added as a dependency - all IGs depend on HL7 Terminology
.... FHIR Extensions Packhl7.fhir.uv.extensions.r4#5.2.0R4
... fhir.r4.ukcore.stu3.currentbuildfhir.r4.ukcore.stu3.currentbuild#0.0.19-pre-releaseR4
... Genomics Reporting Implementation Guidehl7.fhir.uv.genomics-reporting#3.0.0R4
.... HL7 Terminology (THO)hl7.terminology.r4#6.1.0R4
.... FHIR Extensions Packhl7.fhir.uv.extensions.r4#5.1.0R4
... HL7 Europe Laboratory Reporthl7.fhir.eu.laboratory#0.1.1R4
.... HL7 Terminology (THO)hl7.terminology.r4#6.2.0R4
.... International Patient Summary Implementation Guidehl7.fhir.uv.ips#1.1.0R4
..... HL7 Terminology (THO)hl7.terminology.r4#5.0.0R4
..... fhir.dicomfhir.dicom#2022.4.20221006R4
... Structured Data Capturehl7.fhir.uv.sdc#3.0.0R4

Package hl7.fhir.uv.extensions.r4#5.2.0

This IG defines the global extensions - the ones defined for everyone. These extensions are always in scope wherever FHIR is being used (built Mon, Feb 10, 2025 21:45+1100+11:00)

Package fhir.r4.ukcore.stu3.currentbuild#0.0.19-pre-release

UK Core FHIR profiles and Assets

Package hl7.fhir.uv.extensions.r4#5.1.0

This IG defines the global extensions - the ones defined for everyone. These extensions are always in scope wherever FHIR is being used (built Sat, Apr 27, 2024 18:39+1000+10:00)

Package hl7.fhir.uv.genomics-reporting#3.0.0

Guidelines for reporting of clinical genomics results using HL7 FHIR. (built Thu, Dec 12, 2024 20:34+0000+00:00)

Package hl7.fhir.uv.ips#1.1.0

International Patient Summary (IPS) FHIR Implementation Guide (built Tue, Nov 22, 2022 03:24+0000+00:00)

Package hl7.fhir.eu.laboratory#0.1.1

This guide describes how the Laboratory Report can be represented in the European REALM. (built Tue, Mar 25, 2025 12:00+0100+01:00)

Package hl7.fhir.uv.sdc#3.0.0

The SDC specification provides an infrastructure to standardize the capture and expanded use of patient-level data collected within an EHR.
This includes two components:
* Support more sophisticated questionnaire/form use-cases such as those needed for research, oncology, pathology and other clinical domains.
*Support pre-population and auto-population of EHR data into forms/questionnaires for uses outside direct clinical care (patient safety, adverse event reporting, public health reporting, etc.). (built Tue, Mar 8, 2022 18:36+0000+00:00)

Credits

Role(s) Contributor(s)
  North West Genomic Medicine Service Alliance
  Alder Hey Children’s Hospital Trust
  Manchester University NHS Foundation Trust
  Liverpool Womens NHS Foundation Trust
  The Christie NHS Foundation Trust
  NHS England
Enterprise Architect Kevin Mayfield (Aire Logic/Mayfield IS)