A Chat with Dr Peter Fish, CEO at HealthTech Company: Mendelian

Mendelian is a healthtech company on a mission to improve patients’ lives by accelerating the identification of rare and hard to diagnose diseases and enabling faster, more targeted access to treatment. Individually rare but collectively common, rare diseases are estimated to affect 350 to 400 million people globally – or around 1 in 17. Sadly, children are disproportionately affected, accounting for around 50% of those living with these diseases. Furthermore, there are now thought to be as many as 11,000 known rare diseases – and five to ten new conditions are described in medical literature every week.

Often these illnesses present with a range of complex and seemingly disconnected symptoms and the route to diagnosis and treatment can be long and frustrating for all involved. These difficulties combined create a huge burden on patients, their families, clinicians and healthcare systems. In the UK, for example, undiagnosed rare diseases have previously cost the NHS in excess of £3.4 billion and it’s this diagnostic odyssey that Mendelian is working to solve.

What do you think makes this company unique?

We believe the key to solving the diagnostic odyssey is through technology and our ‘MendelScan’ software enables the identification of patients who may have unrecognised rare and hard to diagnose diseases. MendelScan quickly and seamlessly integrates with existing primary care clinical systems, scanning patient health records against validated detection algorithms for rare disease symptoms.

Once a potential rare disease is detected, patient cases are validated by Mendelian and then flagged to the GP, with a detailed report explaining the condition and recommending treatment pathways. GPs can then decide the best way to help each patient by combining their clinical expertise with the novel insights from MendelScan. The technology actively works in the background of existing NHS systems, meaning there is no additional software for clinicians to learn or use – it helps them make more informed decisions and raises potential conditions they may not have considered otherwise, or may not have even heard of before.

In the UK generally speaking, it still takes nearly six years, eight clinicians (including four specialists) and four misdiagnoses before a rare disease is identified – but on average, MendelScan can identify rare disease patients 4.4 years earlier than standard care.

How has the Mendelian evolved over the last couple of years?

Initially Mendelain’s solution was focused on providing support to specialist clinicians but we soon pivoted to our current model, which now focuses on primary care. As the local GP practice is where the majority of rare disease patients begin their journey, this is where we feel our technology can make the biggest difference.

For example, if rare or hard to diagnose disease patients can be identified early on at this stage and referred to relevant specialists for further testing and possible treatment, not only is this optimal for the patients involved, but cumulatively it will have a sizable knock-on effect on the wider efficiency of the entire healthcare service. Currently MendelScan is implemented in over 45 NHS GP practices across the UK, benefiting an estimated 450,000 patients and with a significant further roll-out planned for this year.

What can we hope to see from Mendelian in the future?

In the near future, we aim to implement our technology into more clinics and GP practices across the UK, as well as work more closely with pharma companies and relevant partners. At Mendelian, we believe that everyone should have access to life-changing care and treatment – and the sooner patients can receive this, the better. Our technology is a critical first step in helping to set rare and hard to diagnose disease patients on the right path, creating lasting positive change, not only for targeted patient populations, but for the NHS and wider society.

To this end, we see our technology as a key part of the ongoing digital transformation our healthcare system will experience over the coming years, as cutting-edge advances – including big data, AI and machine learning become part of the fabric of the NHS. As this continues to drive change forward, we will see clinicians receive the support and resources they need, increased efficiencies across the board, and a growing focus on personalised care – which when combined, will ultimately improve and save more lives.

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