Event round-up | NHS Genomic Medicine: Advancing Order Management and Test Directory Standards

Please access the day's presentation slides here.

This techUK session, held on June 27, 2025, brought together NHS England's Genomics Informatics Programme team with industry stakeholders to provide comprehensive updates on three critical digital transformation projects supporting the NHS Genomic Strategy. The event demonstrated significant progress across digital order management, test directory modernization, and unified genomic records, with clear implications for healthcare technology suppliers.

Strategic Foundation

The session was anchored in the NHS's ambitious 5-year genomic strategy "Accelerating Genomic Medicine in the NHS" (2022), which envisions making genomics accessible as part of routine NHS care. This strategy encompasses embedding genomics through innovative service models, delivering equitable testing for precision medicine, positioning genomics at the forefront of digital revolution, and evolving services through cutting-edge science and innovation.

Digital Order Management: From Paper to Digital Integration

The Digital Order Management (DOM) project has successfully completed its Alpha phase and is transitioning to Private Beta. The programme achieved a significant milestone through successful Alpha integration with North Thames GLH, encompassing Imperial College Healthcare, Great Ormond Street Hospital, and Royal Marsden. This integration involved approximately 60 industry participants across two connectathons (held at techUK), demonstrating the collaborative approach NHS England is taking with technology suppliers.

The system architecture centers on a FHIR-based central broker that facilitates standardized messaging between organizational boundaries while providing workflow task management capabilities. The current implementation offers three connection methods: native interoperability with EPRs and LIMS as the strategic end goal, EPR and LIMS integrations through Trust Integration Engines as an interim solution, and a National Web Portal for immediate access.

Industry suppliers should prepare for fundamental changes in genomic test ordering processes. The shift from paper-based to digital ordering will require system updates to integrate with the central broker, while the move toward native FHIR interoperability represents a significant opportunity for vendors to enhance their offerings. The Private Beta development phase, running through 2026-2027, will provide structured opportunities for supplier engagement and system testing.

Digital Genomic Test Service: Revolutionizing Test Directory Management

The Digital Genomic Test Service (DGTS) represents perhaps the most transformative change, moving from the current Excel and PDF-based test directory to a sophisticated, structured data platform. The MVP launch scheduled for Autumn 2025 will introduce a "Wikipedia for genomic testing" interface alongside comprehensive API access for system integration.

The new data model fundamentally restructures how genomic tests are organized, introducing test packages as collections of related genomic tests rather than maintaining individual test duplications. This change will impact how suppliers structure their systems and how organizations order genomic testing. The DGTS integrates with external reference sources including PanelApp, HGNC gene data, ClinGen ISCA regions, and SNOMED CT, providing enriched test information and standardized terminology.

For technology suppliers, the DGTS transition presents both challenges and opportunities. Test identifiers may change from the current R and M codes to a unified system, potentially requiring significant system updates. However, the API layer will enable real-time access to test information, version control, and status management, allowing for more sophisticated integration than the current static file approach. The new Excel and PDF exports will maintain backward compatibility while providing enhanced data quality and additional information columns.

Unified Genomic Record: Lifetime Value of Genomic Data

The Unified Genomic Record (UGR) project, currently in Alpha development, aims to provide a single point of administration and access to genomic data for each patient throughout their lifetime. The Discovery phase focuses on three priority use cases that demonstrate clear, realizable benefits: pharmacogenomics for "test once, use many" drug prescribing optimization, cancer clinical trials for GMS-wide patient identification, and inherited cardiovascular conditions for family member linkage and cascade testing.

The UGR represents a significant departure from current siloed approaches to genomic data management. The Alpha wireframes demonstrate integration potential with the National Care Record Service, research platforms, and patient-facing applications like the NHS App. For suppliers, this creates opportunities to develop complementary services and integrate with a national genomic data infrastructure, while also requiring consideration of structured reporting standards and family linkage capabilities.

Standards Development and Industry Alignment

The programme's standards initiative builds comprehensively on existing frameworks including HL7 FHIR workflows, UK Core profiles, and international standards from organizations like IHE, GA4GH, and HL7 Europe. The team has developed detailed implementation guidance that addresses the practical challenges of transitioning from HL7v2 messaging to FHIR-based interactions while maintaining compatibility with existing laboratory and clinical systems.

The standards work extends beyond technical specifications to encompass terminology alignment with NHS Data Dictionary concepts, integration with NHS England core services, and cross-border sharing capabilities. For suppliers, this represents an opportunity to align development efforts with established standards while contributing to the evolution of genomic data exchange protocols.

Industry Engagement and Future Opportunities

NHS England's approach emphasises collaborative development with industry partners through structured engagement mechanisms. The connectathon model has proven successful, with high satisfaction ratings and clear technical outcomes. Future connectathons will provide ongoing opportunities for suppliers to test integration approaches and influence standard development.

The transition timeline spans from the current Alpha completion phases through Private Beta development in 2025 and full rollout extending into 2027. This provides a structured pathway for supplier engagement, with clear milestones for system development and integration testing. The programme's emphasis on maintaining backward compatibility while introducing advanced capabilities creates opportunities for both incremental system updates and comprehensive platform modernization.

Strategic Implications and Next Steps

These three interconnected projects represent the most significant modernisation of genomic medicine infrastructure in the NHS's history. The move from paper-based processes to fully integrated digital workflows will create new market opportunities while requiring substantial adaptation from existing suppliers. The emphasis on standards, interoperability, and collaborative development positions the programme as a model for digital health transformation globally.

For industry stakeholders, the key opportunity lies in early engagement with the Private Beta phases, contribution to standards development, and preparation for the fundamental changes in genomic test ordering, directory management, and patient record integration. The programme's success will depend significantly on industry collaboration and the development of robust, interoperable solutions that support the NHS's vision of genomics as routine healthcare.

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