Mendelian secures £500k to help diagnose rare disease patients

Mendelian has received a grant of over £500,000 from Innovate UK to help GPs to identify NHS patients who may have rare or hard-to-diagnose diseases.

The funding is to implement the company’s specialised screening system, which provides augmented intelligence and data analysis to deliver the fast, accurate and automated identification of patients who may have these conditions.

Once the technology has analysed a patient’s symptoms, they are flagged to the GP who has various options, including referring the patient to a specialist or recommending further analysis and testing.

The two-year project is being trialled in Hertfordshire, in partnership with Eastern Academic Health Science Network (AHSN) and NHS East and North Hertfordshire Clinical Commissioning Group. The aim is for the technology to  be rolled out to other areas in the UK.

Research has shown that in the UK it takes an average of 5.6 years, eight clinicians – including four specialists – and three misdiagnoses before the correct rare disease is identified. A further health economics report, commissioned and released by Mendelian in November, revealed that over the last decade, undiagnosed rare disease patients have cost the NHS in excess of £3.4bn.

Dr Peter Fish, Head of Clinical Partnerships at Mendelian, said: “ It’s clear that this ‘diagnostic odyssey’ is not only causing patients distress and emotional turmoil but is also extremely frustrating for clinicians, as well as costly for healthcare systems and ultimately taxpayers.

“To help solve this pressing issue we’re delighted to be providing a solution within the NHS, for not only rare disease patients, but also those with hard-to-diagnose conditions. Crucially, Mendelian’s technology is being implemented at the general practice stage, at the start of a patient’s journey, with the aim of identifying these conditions as early on as possible.”

Piers Ricketts, Chief Executive at Eastern Academic Health Science Network, said: “We are delighted to support Mendelian as part of our work into rare diseases. With over three million rare disease patients in the UK, innovative technologies using data analytics and machine learning like this are increasingly vital in ensuring that these conditions are diagnosed earlier to provide more targeted and personalised treatment for patients.”

The total budget for the project is £940,000 with more than £500,000 of this awarded to Mendelian by Innovate UK, a non-departmental public body and the UK’s innovation agency, in order to develop and implement the technology.


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