Intelligent Health.tech Issue 07 | Page 63

D I G I T A L D I A G N O S T I C S

Every year , it is good to reflect on people with rare conditions , including those who are already diagnosed , those who are undiagnosed ( but actively seeking a diagnosis ), as well as those ‘ yet to be suspected ’ cases – where the patient and clinician are unaware that something more significant may be causing certain symptoms .

The route to diagnosing a rare illness can be long , difficult and extremely stressful . Often these conditions present with a range of complex and seemingly disconnected symptoms , meaning they can sometimes remain undetected for years – even entire lifetimes .
In the UK , the average diagnosis of a rare disease takes around 5.6 years , eight clinicians ( including four specialists ) and four misdiagnoses before an accurate conclusion is reached . These conditions are also far more common than people realise – collectively affecting around one in 10 people globally , with children accounting for around 50 %.
Due to these factors , rare and hard-to-diagnose diseases place a huge burden , not only on individuals and their families but also clinicians and entire healthcare systems . Therefore , it ’ s fundamental to prioritise and continue to tackle this diagnostic odyssey .
To achieve this , we believe that pioneering AI technology holds the key to widespread adoption and significant results . Here are some reasons why it ’ s a game changer when it comes to rare disease diagnosis :
It empowers clinicians
AI technology isn ’ t designed to replace clinicians , its function is to help them do their jobs at an even higher standard . For example , many general practitioners may not have even heard of certain rare diseases or be aware of the symptoms .
Dr Peter Fish , CEO of Mendelian , explores the benefits of Artificial Intelligence in the diagnosis processes of rare diseases . He also talks about the UK ’ s current healthcare environment , how it could be a catalyst for global impact and how his company are making moves to prevent this .
And this is completely understandable . Research from Rare-X suggests that there may be as many as 11,000 rare diseases – over 2,000 more than previously thought – and on top of this , five to 10 new conditions are described in medical literature every week .
To combat this issue , AI technology can apply validated case-finding algorithms to patient healthcare records at scale , meaning potential

WHY AI TECHNOLOGY COULD MEAN A BREAKTHROUGH YEAR FOR RARE DISEASE DIAGNOSIS

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