Rare disease diagnosis programme launched across 45 GP practices

Health tech company Mendelian has partnered with Modality NHS Partnership to launch a programme to provide support for rare disease diagnosis for over 450,000 patients across 45 GP practices.
Due to start in January 2021, Mendelian’s technology will support primary care diagnosis of rare disease, throughout Modality’s GP practice network.
The technology uses an algorithm to capture disease features from electronic health records across a patient population and patients are matched to published diagnostic criteria for up to 6000 rare conditions.
Dr Will Evans, Clinical Lead at Mendelian explains: “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, trialing 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, added: “Modality is excited to be working 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.”

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