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Official URL: https://fhir.nwgenomics.nhs.uk/ImplementationGuide/fhir.nwgenomics.nhs.uk				Version: 0.0.8
Draft as of 2025-10-16				Computable Name: NWGMSA

Introduction

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

• NHS England - FHIR Genomics Implementation Guide which defines the conformance requirements for Genomics in England
• NHS England - Genomic Order Management Service FHIR API a FHIR Workflow based service for managing orders and results at a national level.

The general workflow is based on IHE LTW profiles and HL7 v2 OML and ORU.

Clinical Process

Genomic Testing Workflow is part of Diagnostic Testing, which is also part of the general clinical process.

graph TD;

    A[Assessment]-->|Observation| B;
    A--> O;
    B[Diagnosis]-->|Condition| C;
    O[Diagnostic Testing]--> T;
    T[Ordering Tests]--> |laboratory or imaging order| S;
    S[Specimen Collection] --> AN;
    AN[Analyzing results] --> |further tests <br/> reflex order| T;
    AN --> |laboratory or imaging report| A;
    AN --> |laboratory or imaging report| B;
    C[Plan]-->|Goal| D;
    D[Implement/Interventions]-->|Task| E;
    E[Evaluate]-->A;

    classDef purple fill:#E1D5E7;

    classDef yellow fill:#FFF2CC;
    classDef pink fill:#F8CECC
    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 O,S,T,AN purple

Diagnostic Testing Workflow

Genomic diagnostic testing follows the same standardized process defined by the IHE Laboratory Testing Workflow used in traditional laboratory testing. This workflow has been enhanced to support the sharing of laboratory reports (documents) through Integrated Care Systems (ICS). In addition, a new mechanism for sharing laboratory reports has been introduced to establish a regional genomic data repository.

Diagnostic Testing Workflow

Together, the ICS document sharing and regional data repositories represent new methods of exchanging genomic data, building upon the traditional HL7 v2 messaging approach.

graph TD;
    Read[Read Genomic Laboratory Report]-->O
    O{options} --> |"FHIR REST (US Core) or bespoke API"| EHR[NHS Trust<br/>EHR] 
    O --> |"FHIR REST (CareConnectAPI)<br/>or IHE XDS"| ICS[Integrated Care System <br/> Document Repository]
    O --> |"FHIR REST<br/>(IHE QEDm and MHD)"| CDR[Regional Genomic<br/> Clinical Data Repository]

    Receive[Receive Genomic Laboratory Report] --> OR{Options}
    OR --> |"HL7 v2 ORU_R01<br/>(IHE LTW)"| RIE[Acute Hospitals<br/>Regional Genomic Integration Engine] 
    RIE--> |"HL7 v2 ORU_R01<br/>(IHE LTW)"| EHRTIE[North West<br/>NHS Trust<br/>EHR] 
    RIE--> |"HL7 v2 ORU_R01<br/>(IHE LTW)"| BOARD["NHS Wales<br/>Health Board<br/> (future?)"]
    RIE --> |"FHIR Transaction<br/>via NHS England Genomic Order Management Service"| GOMS["NHS England<br/>NHS Trust<br/>EHR (Future)"] 
    OR --> |HL7 v2 MDM_T02 or IHE XDS| ICSTIE[Integrated Care System <br/> Document Repository]
    OR --> |FHIR Subscription <br/> and Event Notification| Any["Any <br/>(future)"]

Read Genomic Laboratory Report

The APIs for accessing genomic laboratory reports from EHR using FHIR REST are outside the scope of this Implementation Guide and are detailed in supplier-specific implementation guides, such as:

• EPIC on FHIR
• Meditech FHIR
• FHIR R4 APIs for Oracle Health Millennium Platform

The Regional Clinical Data Repository (CDR) will adopt a similar FHIR RESTful approach to that used by Electronic Health Records (EHRs), and will also conform to IHE Query for Existing Data for Mobile (QEDm) and IHE Mobile access to Health Documents (MHD)

Receive Genomic Laboratory Report

To enable viewing of Genomic Laboratory Reports within an NHS Trust EHR or an ICS Document Repository, the report must first be received through HL7 v2 ORU or MDM messaging.

In the future, an alternative messaging approach using FHIR Subscription and Event Notifications is expected to be supported. Details of this approach will be provided in a later version of this Implementation Guide.

Read and Send Laboratory Order

graph TD;
    Read[Read Genomic Laboratory Order]-->O
    O{options} --> |"FHIR REST<br/>(IHE QEDm and MHD)"| CDR[Regional Genomic<br/> Clinical Data Repository]

    Receive[Send Genomic Laboratory Order] --> OR{Options}
   
    OR --> |"HL7 FHIR Message O21<br/>(IHE LTW)"| RIE[Acute Hospitals<br/>Regional Genomic Integration Engine] 
    OR --> |FHIR Subscription <br/> and Event Notification| Any["Any <br/>(future)"]
    RIE --> |"HL7 v2 OML_O21<br/>(IHE LTW)"| EHRTIE[NW Genomics<br/>Laboratory Information Management System] 
    RIE --> |"FHIR Transaction<br/>via NHS England Genomic Order Management Service"| GOMS["External<br/>Laboratory Information Management System<br/>(Future)"] 

How to Read this IG

	Menu Item	Description	Audience
	Analysis and Design (Volume 1)	Description of the processes and corresponding technical frameworks	General
	Interfaces (Volume 2)	Description of the processes and corresponding technical frameworks (HL7 v2 and FHIR Interactions)	Detailed Technical (Integration Developer)
	Domain Archetype (Volume 3)	NHS North West Forms, Templates, Reports and Compositions	Detailed Technical (Data Modelling)
	Artefacts (Volume 4)	NHS North West Common Data Models	Detailed Technical
	Development	Testing, Suppport and Architecture	Detailed Technical (Developer)

Technical Overview

This Implementation Guide is implemented in the Regional Integration Engine (RIE)

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)

It also brings in both data and workflow requirements from a variety of other guides.

North West GMSA IG

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

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)

Package hl7.fhir.uv.tools.r4#0.8.0 This IG defines the extensions that the tools use internally. Some of these extensions are content that are being evaluated for elevation into the main spec, and others are tooling concerns (built Tue, Aug 5, 2025 20:09+1000+10:00)

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)