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CASE STUDY

A National Service for Genomic Testing

Helping Genomics England deliver the NHS's Genomic Medicine Service.

The Client

The UK's Department of Health originally founded Genomics England as a wholly-owned commercial partner to deliver the 100,000 Genome programme. Following the programme's completion in 2018, Genomics England was tasked with delivering the technology that would power the NHS's new Genomic Medicine Service. This would be new national infrastructure, enabling oncologists and rare disease specialists to order genomic tests on any patient and to have the results delivered in short order, anywhere in England.

At the heart of the new service was the National Genomics Test Directory and Test Ordering Service. This would be the system that clinicians used to order the tests and receive the results.

THE CHALLENGE

This was going to be a significant software platform, integrating web applications, bioinformatics pipelines and a complex software back-end that orchestrated the flow of thousands of concurrent tests.

The range of stakeholders involved was similarly diverse: clinicians, bioinformaticians, NHS England service managers and genomic specialists who would provide interpretation services. Each would need to access the system with different needs.

Following its successful partnership to deliver data infrastructure for 100,000 Genome programme, Unai were awarded the contract to develop the back-end system for the new Test Ordering Service.

What Unai Delivered

  • Microservices Architecture. Unai's approach to the complexity of the Test Ordering Service was to divide its many functions up into microservices, each handling a single, well-defined task. Careful orchestration of these services enabled complex, system-wide functionality.

  • Deployable Infrastructure. As requirements evolved over time, Unai had to routinely deploy new versions of the service for User Testing. To achieve this, Unai developed a full deployment, Continuous Integration and DevOps process to support the service.

  • FHIR Service. The Test Ordering Service had to interface with a large number of different systems. It was vital that messages were exchanged in a consistent, error-free way. Unai's solution was to architect the system to use the FHIR messaging standard throughout.

The Result

The National Genomic Medicine Service went live in 2021, offering clinicians over 2,000 genetic tests for cancers and rare deseases from the National Genomic Test Directory. The service runs on technology built by Unai.

During the project the value of genomic testing was highlighted again by the COVID-19 pandemic. Unai were able to support Genomics England - and other delivery partners - in the rapid delivery of a new genomics research platform aimed specifically at supporting analysis of the SARSCOV2 virus and populated with the genomic data from 35,000 NHS in-patients.

I am immensely proud of what our team achieved, in what was the largest and most complex project we had ever taken on. The National Genomic Medicine Service brings equitable access to genomic medicine to over 55 million people across England and will improve health outcomes for years to come.

James Baldwin. CEO, Unai