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.
Background
The NHS England Digital Genomic Test Service provides a reference infrastructure intended to replace the legacy National Genomic Test Directory (NGTD). The DGTS is not only a digital replacement for the Excel and PDF files that previously defined genomic test availability, but also enhances the test directory with a richer data model and metadata, and web app that supports an enhanced test authoring process.
The Federated Data Platform has been selected as underlying technological implementation. The DGTS is underpinned by a new data model that describes more detailed aspects of genomic tests in a consistent and structured manner:
- The DGTS represents a move away from current Excel-based authoring of the portfolio, with all tests, test packages, genomic targets all created and administrated within an audited platform.
- The new formal data model expresses formal relationships between entities, enriches tests with data such as turnaround times and sample types, and encapsulates new data concepts like packages.
- Data is now version controlled with tests and packages having a status indicating whether they can be ordered and at what stage they are at in their lifecycle.
- Integration with authoritative ontologies HGNC (gene nomenclature) and WHO Blue Books (tumour classification).
DGTS data is exposed via:
- A web application hosted within the FDP that allows users to search and browse the comprehensive portfolio of genomic tests and packages and:
- View genomic tests and test packages and see new information such as full structured lists of test targets, turnaround times, PLCM payment rules, PanelApp data (information presented to users defined by user types/ Role-Based Access Control (RBAC)).
- Search via a comprehensive and flexible search engine via various parameters, fuzzy matching, synonyms. Users can filter results by test name, package, gene, disease and tumour classification
- A navigable interface to move between associated tests, packages, genes etc.
- Export files containing the test portfolio available in .xls and .csv formats. The NGTD spreadsheet has been reformatted with merged cells removed to improve usability.
- Machine-readable APIs for integration with Electronic Patient Records. (EPRs), Laboratory Information Management Systems (LIMS), and Order Management Systems.
The MVP delivery in 2025 focuses on the core data model, data migration and enrichment, foundational APIs, and a web-accessible application for NHS staff. Subsequent phases will extend the DGTS with structured eligibility criteria, submission workflows, FHIR alignment, and patient-facing access.