Digitalising disease data

The challenge

Across the country, thousands of genomic and complex health data sets are stored. To harness the power of these records in designing new treatments, the first task was to co-ordinate them, to allow efficient tracking and analysing of samples.

The solution

As a Global Digital Exemplar, BHP founder member University Hospitals Birmingham NHS Foundation Trust is renowned for its expertise in using informatics to improve patient care. And, with one of the most advanced Electronic Health Record systems in the world, the trust undoubtedly had the technological capability to design a management system. Alongside these skills, the trust possesses in-depth clinical knowledge of genomic study through its co-ordination of the UK’s largest Genomic Medicine Centre – the regional home of the 100,000 Genomes Project which aims to sequence genomes from patients with cancer and rare diseases.

All this expertise was integrated within a team led by Professor Simon Ball, the trust’s Director of Digital Healthcare. The end result was GeNIE – the Genomics Networked Information Exchange platform – which seamlessly links clinical data (including radiology and other imagery) and sample tracking for recruited patients.

Combining genomic sequence data with this scale of diverse medical records is a ground-breaking resource, with the potential to increase our understanding of disease and its causes – leading to better diagnoses and more effective treatments.

The outcome

GeNIE is currently being rolled out to the 16 regional NHS Trusts which make up the West Midlands Genomic Medicine Centre. However, its reach is now nationwide: with GeNIE’s functionality far exceeding that of other national solutions, it has been effectively implemented at Great Ormond Street Hospital, Imperial College London, Royal Devon & Exeter, and Newcastle Hospitals.

The wide-ranging uptake of GeNIE means that it makes more than half of all rare disease referrals to the 100,000 Genomes Project, making a significant contribution to its success. It will also form the basis of a regional, multidisciplinary NHS platform for the West Midlands Cancer Alliance – as well as the order communications arm of the National Genomics Informatics Infrastructure for NHS England.

Overall, it’s expected that GeNIE could soon be in use across more than 250 NHS sites nationwide.