Notice
- Important: This guidance is under active development by NHS England and content may be added or updated on a regular basis.
- This Implementation Guide is currently in Draft and SHOULD NOT be used for development or active implementation without express direction from the NHS England Genomics Unit.
Scope
- Order Management: The UGR will surface all test order requests and reports, and associated meta data provided by the order management services.
- Digital Genomics Test Directory Services: The UGR may reference this service for data validation of storing test order requests and reports.
- Specimen Data: The UGR will record sample metadata and reference any sample storage resources used as part of genomic diagnostics.
- Sequence Data: The UGR will record and provide access to all data created from the DNA sequencing process. This applies to all genomic diagnostic modalities, including whole genome sequencing (WGS).
- Family Linking: Linking UGR records is a key requirement and is within scope to support inherited disease diagnostics.
- Purpose Based Access Control (PBAC): The UGR implements purpose-based access control at the data layer. Storing the access control policies and enforcement via data sharing processes are in scope.
- Secondary uses: Storage and sharing of UGR data for population health management, management information and research.
- National Genomic Research Library: Providing the structured data and transport into the NGRL from the UGR is in scope. Specific implementations must honour appropriate information governance.
The data output formats in scope are:
- OMOP
- FHIR
- PLCM (TBC)
- GA4GH
The data transports used to share data, which are in scope, are:
- API Management (APIM)
- Multicast Notification Service (MNS)
- Genomic Order Management Service (GOMS) API
- Global Alliance for Genomic Health (GA4GH) Data Repository Service (DRS)
- GA4GH High-throughput sequencing GET (htsget)