Using data to speed up diagnosis of rare diseases

In a new collaboration with Barts Health’s Clinical Haematology team and Sanofi, Barts Life Sciences (BLS) aims to speed up diagnosis – and in turn treatment – of rare diseases.

Rare diseases aren’t as rare as you might think. In fact, 1 in 17 people in Europe will be diagnosed with one. But despite being more common than originally imagined, unfortunately, on average, it takes 4 years for a rare disease to be diagnosed.

This isn’t good for several reasons. For the patient, it can be a very stressful time. They will often have to see many doctors, explaining their symptoms repeatedly, which can be distressing. This also impacts on treatment – either delaying it or, in some instances, patients might be misdiagnosed and treated for another condition.

In this new collaboration, BLS, which through its’ Precision Medicine Programme has access to one of the largest data sources in the NHS, is joining forces with Sanofi UK, a leading global healthcare company, and a team of clinical haematologists to speed up diagnosis for Gaucher Disease.

Gaucher disease is a rare blood disorder, (a lysosomal storage disorder). Symptoms of the disease – which include low platelet count, an enlarged spleen and fatigue – often look like and are mistaken for other blood haematological conditions like inherited or acquired thrombocytopenia (low platelet count). This means that correct treatment is often delayed.

Part of the reason for this is that currently, doctors don’t have a clear framework that helps them identify quickly and more accurately patients who have this condition

Through this collaboration, BLS and partners aim to develop a new automated search query to identify patients with symptoms of Gaucher Disease, who will then be reviewed by doctors to confirm if the diagnosis is accurate.

“It’s early days in this collaboration, but we’re really excited about it,” says Suthesh Sivapalaratnam a group lead at the Precision Health University Research Institute and an honorary consultant haematologist at Barts Health. “By securely harnessing the power of patient data and combining it with our medical knowledge and expertise in data science, we’ll work with our partners, including Sanofi UK to make a difference to patients.

“Ultimately, we want to see if our approach works in Gaucher Disease, before then testing and trialling it with other rare conditions. If we can diagnose these faster, it will not only improve patients’ interactions and experiences with doctors but also ensure patients are treated sooner by the right team of experts.”