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New programme aims to improve rare disease diagnosis

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Mendelian and Modality are helping the NHS diagnose rare diseases

Digital health company Mendelian and Modality NHS Partnership have launched a new programme which aims to improve rare disease diagnosis. The clinical lead at Mendelian spoke to Health Tech World about the importance of the new partnership.

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

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

Mendelian’s software MendelScan uses technology, data capture and the latest medical knowledge to enable and improve rare disease diagnosis. By supporting primary care physicians to quickly refer to the right specialist, it enables faster diagnosis and treatment for patients.

Clinical lead Dr Will Evans said: “One thing that’s often shared across all rare diseases, regardless of cause or what age they present with symptoms, is that patients frequently experience a long delay before they receive a diagnosis.

“During that time, they’re going backwards and forwards to doctors, having lots of different tests, getting referred off to hospitals, but not actually getting the correct diagnosis.

“We realised that one of the big issues is that often the information is there, it’s just not joined up; It’s sitting in different silos. You may be seeing different specialists with different aspects of this undiagnosed disease, but all that information is not brought together.

“What MendelScan does is it takes that information that is sitting there in the electronic health record and joins the dots up. It picks up on these different features that have occurred at different points and in different bits of an individual’s body.

“It identifies those things and flags up these patients as potentially having this condition and then generates a report that is sent back to the patient’s GP.”

Evans also spoke about the programme’s potential to relieve financial pressure on the NHS.

“We know that these patients are accessing healthcare an awful lot more than other patients. because they’re being moved around from one specialty to another.

“So, if we can remove a lot of those unnecessary investigations, unnecessary treatments and inappropriate treatments, which not only cause harm but obviously incur expense, then we can make it a far more efficient and cost-effective system.”

Zishan Ali, national research lead at Modality NHS partnership, added: “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 that this will benefit both patients and the NHS in ensuring that patients get the right level of care earlier on.”

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