Genomic Report Sharing Options

NHS North West Genomics
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Local/Regional Genomic Reports
Future? National Diagnostic Reports
Security Considerations

This section describes how genomic reports can be queried, retrieved, and distributed across regional and national systems. Reports may be available either as:

Unstructured documents (typically PDF)
Structured data using FHIR resources

The implementation patterns rely on FHIR RESTful APIs combined with HL7 v2 Events+Messages and IHE interoperability profiles.

Local/Regional Genomic Reports

Local or regional systems allow consumers to retrieve genomic reports from the NW Genomic Data Repository or regional care records (for example ICS/LHCRE repositories).

Reports can be accessed either as documents (PDF) or as structured data.

Query Genomic Report - Documents (PDF)

Pattern: IHE Mobile access to Health Documents (MHD)

sequenceDiagram
    participant Consumer As Document Consumer
    participant Repository As Document Registry and Repository

    Consumer ->> Repository: Query Document Metadata
    Repository -->> Consumer: List of DocumentReference
    Consumer ->> Consumer: Select Document entry
    Consumer ->> Repository: Retrieve Document (PDF)
    Repository -->> Consumer: PDF

This approach allows a consumer to:

Query available document metadata
Select a document
Retrieve the document content (typically a PDF)

Query Genomic Reports - Data

Pattern: IHE Query for Existing Data for Mobile (QEDm)

Also following HL7 Genomic Report

sequenceDiagram
    participant Consumer As Data Consumer
    participant Repository As Data Repository

    Consumer ->> Repository: Query Data (Diagnostic Report, Observation, etc)
    Repository -->> Consumer :FHIR Resources

Typical resources returned include:

DiagnosticReport
Observation
Specimen
ServiceRequest
supporting genomic profiles (Diganotic Implication and Variants)

Sending and Adding Genomic Report Documents to NHS Trusts, Regional and LHCRE/ICS Repositories

Within NW Genomics, reports are initially shared with the NW Genomic Data Repository.

Pattern: IHE Laboratory Testing Workflow (LTW) [LAB-3] for ORU_R01

Pattern: IHE MHD = Simplified Publish [ITI-105] for MDM_T02

The most common inbound format is:

HL7 v2 ORU_R01

This format is widely used within the NHS for laboratory results reporting.

For document sharing within Integrated Care Systems (ICS) or LHCRE platforms (e.g. Greater Manchester Care Record), the report is converted to:

HL7 v2 MDM_T02

This message type is used for clinical document distribution

Examples:

HL7 v2 ORU_R01
Converted to HL7 v2 MDM_T02

sequenceDiagram
    participant Producer As Document Producer<br/>via NW Regional Integration Engine
    participant Repository As Document Consumer<br/>NW Genomic Data Repository
    participant Trust As Document Consumer<br/>NHS Trust
    participant RepositoryICS As Document Consumer<br/>ICS e.g. GMCR

    Note over Producer,Repository: Adding Report to the NW Repository
    Producer ->> Repository: FHIR Message O21 or HL7 v2 ORU_R01 
    Note over Producer,Trust: Sending Report to a NHS Trust
    Producer ->> Trust: HL7 v2 ORU_R01 
    Note over Producer,RepositoryICS: Adding document to a NHS LHCRE/ICS Repository
    Producer ->> RepositoryICS: HL7 v2 MDM_T02

Future? National Diagnostic Reports

This is a collection of notes from a variety of sources - a current situation report. It does not represent a final decision.

At the national level, laboratory, genomics and imaging reports could be discoverable via the National Record Locator (NRL). The NRL stores document metadata only, while the documents themselves remain within the originating repositories.

Sending and Adding Diagnotic Report Documents to General Practice

Both the HL7 v2 ORU_R01 and HL7 v2 MDM_T02 messages are used in secondary, ICS and regional integrations. For integrations with General Practice these patterns are also followed with several variations including:

Kettering XML using MESH (this is related to HL7 v2 MDM_T02)
GP Connect Send Document (FHIR STU3) using MESH (this is related to HL7 v2 MDM_T02)
NHS England Pathology API's including EDIFACT, ASTM and FHIR Document using MESH. Note HL7 v2 ORU_R01 is also supported by primary care systems.

Note: On a practical level, the majority of these interactions start in HL7 v2 ORU_R01 format and are converted to GP formats within Order Comms software.

Query Diagnostic Report – National Record Locator Service (NRL)

Pattern: IHE Mobile Health Document Sharing (MHDS)

This is essentially the same as Query Genomic Report - Documents (PDF), but the registry is now a separate service.

This pattern is similar to the regional document query pattern but introduces a separate registry service. The registry provides document metadata and indicates where the document can be retrieved.

sequenceDiagram

    participant Consumer As Document Consumer
    participant Registry As Document Registry<br/>National Record Locator Service
    participant SSP As Spine Secure Proxy
    participant Repository As Document Repository<br/>NW Genomic Data Repository

    Note over Consumer,Repository: Retrieving documents from the Registry and Repository
    Consumer ->> Registry: Query Document Metadata
    Registry -->> Consumer: List of DocumentReference
    Consumer ->> Consumer: Select Document entry
    Consumer ->> SSP: Retrieve Document (PDF/FHIR Document)
    SSP ->> Repository: Retrieve Document (PDF/FHIR Document)
    Repository -->> SSP: PDF/FHIR Document
    SSP -->> Consumer: PDF/FHIR Document

Initially, genomic reports are expected to be shared as PDF documents.

Clinical Document Architecture (CDA) and FHIR Document

Pattern: IHE Sharing Laboratory Reports (XD-LAB)

However, this is likely to evolve toward FHIR Document format, which enables both:

human-readable rendering (HTML)
structured machine-readable content

FHIR Documents provide similar capabilities to Clinical Document Architecture (CDA), but use FHIR resources.

Possible future standards include:

FHIR Documents are also expected to align with the NHS England Single Patient Record strategy, as support already exists within the NHS England Pathology FHIR Implementation Guide. Note: The Unified Genomic Registry (UGR) has not yet selected a final document format.

Event Notifications and Adding Genomic Report Document Metadata to National Record Locator Service (NRL)

When a genomic report is generated, an event notification is produced so that document metadata can be registered with the NRL. This process is similar to the regional document distribution flow.

The existing HL7 v2 MDM_T02 message is transformed into:

an event notification e.g. HL7 v2 T01 or IHE DSUBm (FHIR)
a FHIR REST interaction

Pattern: IHE Document Subscription for Mobile (DSUBm)

sequenceDiagram
    participant Producer As Event Producer<br/>NW Genomic Data Repository
    participant Consumer As Event Consumer<br/>NW Regional Integration Engine
    participant Registry As Document Registry<br/>National Record Locator Service

   
    Note over Producer,Consumer: Event Notification (T01 Original document notification)
    Producer ->> Consumer: HL7 v2 MDM_T01 or IHE DSUBm (FHIR)
    Note over Consumer,Registry: Adding document Metadata to the Registry
    Consumer ->> Registry: FHIR RESTful POST /DocumentReference

NHS England also supports event notifications using the Multicast Notification Service API These notifications are delivered as CloudWatch-formatted JSON events.

sequenceDiagram
    participant Producer As Event Producer<br/>e.g. NW Genomic Data Repository
    participant Consumer As Event Subscriber
   
    Note over Producer,Consumer: Event Notification 
    Producer ->> Consumer: Cloudwatch Formatted JSON

Event Notifications and Retrieval of Genomic Report Document from NRL

This may be the replacement for HL7 v2 MDM_T02, NHS England Transfer of Care and GP Connect Send Document (FHIR STU3). It is a combination of the patterns above.

sequenceDiagram

    title IHE Mobile Health Document Sharing (MHDS)
    participant EventProducer As Event Producer<br/>(ICS/Regional) Diagnostic Service
    participant EventConsumer As Event Consumer<br/>Document Consumer
    participant Registry As Document Registry<br/>National Record Locator Service
    participant Repository As Document Repository<br/>(ICS/Regional) Repository
   
    
    alt NHS England Multicast Notification Service
        Note over EventProducer,EventConsumer: Event Notification 
        EventProducer ->> EventConsumer: Cloudwatch Formatted JSON
        Note over EventConsumer,Repository: Retrieve Document
        EventConsumer ->> Registry: Get Document Metadata [IHE MHD ITI-67]
        EventConsumer ->> Repository: Get Document [IHE MHD ITI-68]<br/>Current: PDF<br/>Future: NHS England Pathology Report (EU Laboratory Report)<br/>and EU Imaging Report 
    else HL7/IHE Event Notifications
        Note over EventProducer,EventConsumer: Event Notification 
        EventProducer ->> EventConsumer: HL7 v2 MDM_T01 or IHE DSUBm [ITI-112]
        Note over EventConsumer,Repository: Retrieve Document
        EventConsumer ->> Repository: Get Document [IHE MHD ITI-68]<br/>Current: PDF<br/>Future: NHS England Pathology Report (EU Laboratory Report)<br/>and EU Imaging Report 
    end

Security Considerations

Local and regional integrations typically use an OAuth2 authorization flow.

Authorisation (OAuth2)

All access to genomic reports should also be audited.

Recommended approach: IHE Basic Audit Log Patterns (BALP)

Auditing should capture:

user identity
system identity
patient identifier
accessed resource
timestamp
purpose of use

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