Rare disease digital health company, Mendelian, and Modality NHS Partnership, have announced the largest rare disease diagnosis programme in the UK to improve rare disease diagnosis and enable quicker access to better care.

WHY IT MATTERS

According to a 2020 European Commission study, 1 in 17 people affected by a rare disease during their lifetime and a path to a diagnosis that lasts on average five years.

This new partnership will enable earlier and more efficient rare disease care for people supported by the Modality NHS Partnership who may be living with an undiagnosed rare disease.

Beginning in January 2021, Mendelian’s NHS-integrated technology will support primary care diagnosis of rare disease, throughout Modality’s extensive GP practice network.

Supporting more than 450,000 people through over 45 GP practices, Modality is the largest GP super-partnership in the UK, covering eight regions from North Yorkshire to Mid Sussex.

Rare diseases is a category used to describe over 6,000 known conditions. Each of these conditions affects fewer than 1 in 2,000 people globally, which means that diagnosis, management and treatment is largely unknown, even in the clinical community.

THE LARGER CONTEXT

In September, a £50 million funding boost for AI was invested in speeding up the diagnosis of diseases and to ensure improvements in technology across the NHS.

Earlier this year, Michael Hund, CEO of EB Research Partnership, spoke to Healthcare IT News about a new platform for rare disease patients, powered by AWS.

ON THE RECORD

Dr Will Evans, clinical lead at Mendelian said: “Too many times I’ve heard the same story from patients, carers and parents - that their journey to diagnosis was long and painful - but once received, it opened many doors that led to improved quality of life. Getting a correct diagnosis isn’t easy and doctors do everything they can to help patients: to get them on the appropriate treatment pathway, to ease symptoms and slow disease progression.

"Often this involves ruling out more common conditions, trialling medications and consultations with multiple specialists related to their symptoms, all of which takes time. What we aim to do at Mendelian is use our specially developed technology that understands the signs and symptoms of potential rare diseases to help the clinicians looking after these patients to reach a correct diagnosis.”

Zishan Ali, national research lead at Modality NHS partnership said: “Modality is excited to be working with Mendelian on this project to identify patients with rare diseases earlier than the current standards. We believe in the long term this will benefit both patients and the NHS in ensuring that patients get the right level of care earlier on.”