Mendelian helps NHS to speed up rare disease diagnosis

By Piers Ford
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Doctor talking to patient

Mendelian, a UK healthtech startup, has received a £500,000 grant from Innovate UK to build platforms that will help GPs to identify NHS patients with potentially rare or hard-to-diagnose conditions and diseases more quickly.

The two-year £940,000 project is based on Mendelian’s specialised screening system, which provides augmented and automated data analysis to assist with the accurate identification of patients who may fit these categories at general practice level – the start of the diagnostic odyssey. Once the technology has analysed symptoms, they are flagged to the GP with various options, including specialist referral and recommendation for further tests and analysis.

The first trial is already underway in partnership with the Eastern Academic Health Science Network (EAHSN) and NHS East and North Hertfordshire Clinical Commissioning Group.

Mendelian aims to make significant inroads in the time taken to diagnose rare conditions. In the UK, this takes an average of 5.6 years, can involve as many as eight doctors (including four specialists), and may result in a number of misdiagnoses with the patient accordingly prescribed the wrong treatments. According to Mendelian’s own research, undiagnosed rare disease patients have cost the NHS more than £3.4bn during the last decade:

“It’s a journey that is strewn with obstacles – and the worst thing for the patient is that they feel not only that there is no treatment for their condition, but there is no hope for a treatment,” said Mendelian co-founder Rudy Benfredj. “It might take a long while to identify a genetic cause, for example, leaving doctors at a loss when it comes to treatment.”

While it is too early to report on the findings of the first trial and what they will mean for clinical practice, Benfredj said the technology and solutions are ready. Now it is a matter of making sure the system delivers results in the right way.

Essentially, it is a database that will aggregate and gather as much information as possible about the biology of rare diseases. It will send practices frequent reports about those patients most likely to have particular conditions, based on their records – alerting doctors to the possibility and helping them to create more streamlined care pathways.

He said the NHS is a particularly strong environment in which to build a system that depends on digitalised patient records, and where there is already a high awareness of the value of aggregated data to diagnosis thanks to major projects such as Genomics England.

“There is so much happening in the UK – we know it’s the right place to start,” said Benfredj. “And the NHS brand is the gateway for other markets and European countries.”

MobiHealthNews is a HIMSS Media publication.