Intelligent Issue 07 | Page 65

D I G I T A L D I A G N O S T I C S reviewers . This is a highly encouraging metric , given that early intervention in XLH has a significant positive impact on patient outcomes .
It can make healthcare more equal
AI technology can also enable clinicians to treat more patients in an increasingly consistent and equal manner , regardless of background or status .
Encouragingly , there is emerging evidence from our pilots that MendelScan could reduce the impact that healthcare inequalities ( including socioeconomic factors ) have on early rare disease detection and diagnosis .
Dr Peter Fish , CEO of Mendelian
Here in the UK for example , our solution has the potential to support NHS public health core values and address key priorities of the UK Rare Disease Framework .
Taking a wider view in this way , this type of technology is set to revolutionise not just rare disease diagnosis but healthcare more generally . Cutting-edge advances including Big Data , AI and Machine Learning are likely to become the fabric of these services in the future .
The leveraging of analytics to mine significantly untapped reserves of clinical data will aid doctors and specialists in providing highly efficient , personalised medical treatment and care to increasing numbers of patients , with the ultimate outcome being saving and prolonging more lives .
While separate technologies will , and already do , contribute value alone , the true potential lies in the synergy of multiple advances across the entire patient journey .
It provides a scalable solution
The more AI technology is implemented and used , the more data it has to work with and the more accurate it becomes – meaning that it ’ s a truly scalable , global solution .
This year , Mendelian will evolve in line with the ambition of solving the diagnostic odyssey and helping more rare and hard-to-diagnose disease patients , at scale , across the world . MendelScan will continue to be deployed
at a regional level within the UK to deliver proactive care for millions of people , and beyond the UK ’ s borders we will be preparing for a number of international projects .
Additionally , the company is on its way to being an essential development and go-tomarket partner for novel rare and stratified condition therapeutics .
Currently , eight of the world ’ s leading specialty pharmaceutical companies are working with us on ongoing projects , spanning real-world evidence generation to market development .
The future of rare disease diagnosis
Until relatively recently , the issue of how to accelerate rare disease diagnosis seemed almost impossible to solve – the sheer number of conditions and complexity of symptoms make it one of the greatest challenges in modern healthcare . But AI technology has helped us turn a corner .
This type of innovation , when implemented effectively , will enable clinicians and therefore the system to work smarter and far more effectively , ultimately providing better outcomes for all .
The result of this is a lasting positive impact , not just on small patient populations , but potentially across healthcare sectors around the world . �
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