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CASE STUDY

Processing Clinical Data at Scale

Supporting Genomics England to sequence 100,000 genomes

The Client

The sequencing of the entire euchromatic human genome was a game changer for medical science, and the UK had a huge opportunity to combine genetic information with clinical data, having an integrated care system in the form of the NHS. To realise this impact at scale the UK Government launched the 100,000 Genome project.

Nowhere in the world had such a large sequencing project been undertaken. The UK's Department of Health founded Genomics England as a wholly-owned commercial partner to deliver this programme.

Genomics England was now faced with the challenge of recruiting 100,000 patients, sequencing their genomes and creating the world's largest repository of clinical and genomic research data.

THE CHALLENGE

Genomics England collected data from participants referred to one of the UK's Genomic Medicine Centres (GMCs). This created two key data streams. The first stream was genomic data - which needed to be collected at GMCs, sent to sequencers and then passed to bioinformaticians to analyse. The second stream - where Unai were able to add most value - concerned the clinical data, collected by sector specialists such as oncologists and rare disease experts.

The clinical data was often collected on disparate, specialised systems. The bioinformaticians required it in a consistent, structured and unified format. The scale of the project required an industrialised, robust process with no margin for error.

The bioinformaticians' challenge was then to combine the data-streams and produce reports for clinicians (with which they could inform the patients) and for researchers, accelerating their impact on the health of future generations.

What Unai Delivered

  • Data Pipeline. Unai established a data management pipeline that connected clinical sources to bioinformatics and case management systems. This pipeline controlled the flow of cases through the entire data management lifecycle and enabled interventions management on a case-by-case basis.

  • Rules Engine. Unai developed a clinical rules engine which enabled a detailed set of business rules for handling the workflow and quality checking of clinical cases. The software facilitated manual exception management by case managers, enabling them to control and reroute participants' cases through the system.

  • Management Information (MI) Portal. Unai developed an MI portal that enabled Genomics England to track its key goal: processing 100,000 genomes. Users could "drill down" into every stage of the process and into every case, identifying blockers and resolving 'exceptioned' cases.

The Result

Unai shared the weight of the responsibility to the patients, for whom genomic sequencing will become life changing. The team gave the clinicians transparency to the process and delivered on the trust given to us by Genomics England. By evolving the nascent systems that Genomics England had in place, Unai was were able develop an entire clinical data processing pathway, delivering a robust solution whilst ensuring continuity of service.

The 100,000 Genome project was completed in December 2018.

Following this success, Unai were selected by Genomics England to develop the software back-end for the National Genomics Testing Service - a new national infrastructure to enable oncologists and rare disease specialists to order genomic tests on any patient and to have the results delivered in short order, anywhere in England.

Unai took what was, arguably, one of the biggest challenges of deliving the 100k Genome Project and worked hand-in-hand with us to deliver a robust, bespoke system which enabled our bioinformatics teams to operate at scale.

Atul Hatwal, Programme Manager, Genomics England