With the NHS marking its 74th anniversary this month and the UK government recently allocating £2 billion to further digitise the sector, it’s a time to celebrate progress, but more importantly, an opportunity to look forward to future innovation in our healthcare service.
The NHS must be applauded for standing strong and adapting to the challenges the past few years have brought, yet we now need to start positioning ourselves to tackle deeper medical complexity.
Pioneering technology will play a major role in this, but how it is implemented is the key to building a thriving – rather than simply surviving – healthcare service.
One such challenge is how to accelerate the identification of rare and hard-to-diagnose diseases. An issue, which due to the incorrect assumption that these conditions are collectively uncommon, has a hugely underestimated impact.
Although each rare disease can indeed be classified as ‘rare’, these diseases as a group are definitely far more ‘collectively common’ than many people imagine.
In reality, rare diseases are estimated to affect 350 to 400 million people globally – or around one in 17.
Sadly, children are disproportionately affected, accounting for around 50 per cent of those living with these diseases.
Recent research from Rare-X suggests that there may be as many as nearly 11,000 rare diseases – over 2,000 more than previously thought. On top of this, 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.
The route to diagnosis and treatment can be long, highly inefficient, and, sadly, detrimental for patients and their families.
In the UK on average, it still takes nearly six years, eight clinicians (including four specialists) and four misdiagnoses before a rare disease is identified.
This ‘diagnostic odyssey ’puts an unnecessary burden on clinicians, our healthcare system and, most importantly, those affected and us as society.
According to past research conducted in partnership with Imperial College Health Partners, undiagnosed rare diseases cost the NHS in excess, possibly far in excess, of £3.4 billion.
At Mendelian, we believe the key to solving this issue is to ensure rare and hard-to-diagnose disease patients are identified as early as possible.
To drive this forward, we have been working in partnership with the NHS to integrate our technology into existing healthcare pathways, supporting GPs and clinicians at primary care level.
Our MendelScan technology applies validated case finding algorithms to patient healthcare records at scale.
Once a potential condition is identified, patient cases are then brought to their GPs’ attention, along with a detailed report explaining the disease and potential referral and treatment pathways.
The GP then decides the best next steps for these patients, by combining their medical expertise with these insights.
Early data shows that this approach can help identify rare and hard-to-diagnose disease patients 4.4 years earlier than standard care alone.
Currently MendelScan is implemented in over 45 GP practices across the UK, benefiting an estimated 450,000 patients. With significant further roll-out planned for this year, this is just the beginning.
In the UK, we’re extremely lucky to have the NHS and its highly dedicated staff, but to ensure the system runs optimally and delivers quality, equal care for all, we have to harness new technology.
This type of innovation, when implemented effectively, will enable clinicians, and the system, to work smarter and more efficiently, ultimately providing better outcomes for all.
The result of this is a lasting positive impact – not just on small patient populations – but across the entire healthcare sector.
