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.
Tell us about yourself?
I’m a medical doctor with degrees in Human Genetics and an MBA. I previously founded and managed a number of tech, healthtech and biotech companies, many of which focused on scalable mechanisms for delivering stratified and personalised medicine.
I initially joined Mendelian as an investor and assisted the founders from an early stage, before stepping into my current role as company CEO in March 2022.
If you could go back in time a year or two, what piece of advice would you give yourself?
Plan for things to sometimes take longer than anticipated, especially when working with large organisations such as the NHS! But keep going, our mission to change the way medicine works and improve people’s lives is a good one!
What problem does your business solve?
Individually rare, but collectively common, rare diseases are estimated to affect 350 to 400 million – or around 1 in 17 – people globally.
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 rare diseases 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.
Therefore, through the use of our ‘MendelScan’ technology, we are able to accelerate the identification of rare and hard to diagnose diseases and enable faster, more targeted access to treatment.
What is the inspiration behind your business?
Our inspiration is to support clinicians, enabling them to become even better at what they do, and ultimately improve the lives of more patients.
Our MendelScan 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.
What is your magic sauce?
Our unique ‘MendelScan’ software 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 on the best approach to help each patient, by combining their clinical expertise with the novel insights from MendelScan.
What is the plan for the next 5 years? What do you want to achieve?
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.
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.
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.
What is the biggest challenge you’ve faced so far?
The last few years have been a challenge for so many people, businesses and services globally but we have continued to focus on streamlining our business model, which focuses on primary care in the UK.
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 impact.
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.
How do people get involved/buy into your vision?
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.
It’s vitally important that the medical and tech communities come together to continue to support this growth and this drive change forward.
To this end, our wider ambition is to be part of the technological drive to ensure clinicians receive the support and resources they need, which will enable increased efficiencies across the board and a growing focus on personalised care – when combined, this will ultimately improve and save more lives.