The Rare Diseases Sprint Project was a remarkable partnership between multiple organisations from the NHS, academia and industry which made health data from patients with rare diseases from across five NHS Trusts, available for research to better diagnose, develop treatments or cures, and to deepen our understanding of these conditions. Although uncommon, there are many different rare diseases and collectively, they affect one in 17 people in the UK – about 3.5 million individuals.

The overall aim of the HDR UK Sprint Exemplar Innovation Projects was to develop research services and infrastructure across NHS, academia and industry to enable the utilisation of high-value, linked datasets for health data research at scale in the UK. This team delivered on its ambitious plan to do this in the field of rare disease research, in record time, and demonstrated exemplary team-working characteristics in doing so, and our Award Committee deemed them Team of the Year as a result.

This project team has exemplified how diverse teams across a variety of private and public stakeholders can deliver innovative and best-practice solutions. Together, they delivered what may well be a world first – cloud integration of information captured over patients’ lifetimes, including healthcare data, research and lifestyle data, and genomics data.

How this team met the criteria for Team of the Year

This team made outstanding achievements relating to the HDR UK mission of uniting health data to improve people’s lives. In just ten months, under the direction of Professor John Bradley, at Cambridge University Hospitals, data relating to three cohorts patients with a rare disease; bleeding and platelet disorders, primary immunodeficiency disorders, and pulmonary arterial hyper-tension, has been de-identified, and linked for an approved study in a secure cloud-based digital research environment where de-identified phenotype and genotype data can be integrated and made available for approved research studies. The combined data resource was accessed by a researcher for the first time in early December 2019 and used in a study that ‘Improved Diagnostics by application of Artificial Intelligence and Machine Learning to Full Blood Count data to provide Clinical Decision Support’. We should not underestimate the great technical challenge that this ‘proof of concept’ work overcame in designing and delivering end-to-end technical architecture to achieve Cloud-based integration of phenotype and genotype data for rare disease research.

The team channelled HDR UK’s values of transparency, optimism, respect, courage and humility. For example, the project was only made possible through the optimism and energetic advocacy and support of the lead investigators of all five NHS Trusts involved: Cambridge University Hospitals, Leeds Teaching Hospital, Royal Liverpool and Broadgreen University Hospitals, Newcastle upon Tyne Hospitals and The Royal Papworth Hospital. Throughout the project they were highly transparent about the use of patient data and the role of each partner organisation within the team, to build and maintain public trust. The high standards of information security and governance the public expect for NHS data were observed throughout, and the privacy of individuals protected, through the partnerships with Privitar and AIMES. The team respected that this work was only made possible because of the generous and public-spirited patients and volunteers enrolled in the NIHR BioResource who had given their consent for their healthcare data to be used for clinical research. It is widely viewed that to achieve what this team has done between just two NHS Trusts would have been challenging, so their courageous plans to bring together datasets from five Trusts was optimistic – but that optimism was very well placed.

John Bradley and Cambridge University Hospitals provided innovative and inclusive leadership, as well as information governance and risk management. They brought together a highly-functional, interdisciplinary and intersectoral team, with members form a range of career stages. As well as those already mentioned, partners in this project included the NIHR BioResource, Cambridge University Health Partners, Eastern Academic Health Science Network, Public Health England National Diseases Registries, Microsoft Research Lab – Cambridge, and the Wellcome Sanger Institute. Together this team was inter-sectoral – with NHS, academia and industry all represented – and brought together several regions of the country, from the south-east to the north of England.

Onwards and upwards

This project provided the basis for development of ‘Gut Reaction’, the Health Data Research Hub for Inflammatory Bowel Disease, which already has more than 30,000 participants and over 100 NHS Trusts UK-wide. It has also primed other research and development projects involving integration of data and new technologies, including a high-profile COVID-19 study.

To read more about the Rare Disease Sprint Exemplar, see this case study.

To read more about Gut Reaction’, the Health Data Research Hub for Inflammatory Bowel Disease, see its webpage and introductory video.