Intelligent Issue 07 | Page 64

conditions can then be flagged to clinicians , enabling them to recommend referral and treatment pathways based on this insight .
This isn ’ t the technology of the future ; it ’ s making a difference right now . Our medical device , MendelScan , is currently implemented in over 50 NHS primary care practices across England , using AI technology to help clinicians identify rare and hard-to-diagnose disease patients far more efficiently .
So far to date , MendelScan has scanned over 800,000 patient records . Over the course of 2022 , feedback gathered from clinical users indicated that 54 % of cases were identified as valuable to review , with 36 % moved forward for further analysis and testing .
The UK Government is also investing in this technology . Mendelian recently announced that it has been awarded £ 1.4 million as part of The Artificial Intelligence in Health and Care Awards ( AI Awards ) which is run by the NHS AI Lab in partnership with the National Institute for Health and Care Research ( NIHR ) and the Accelerated Access Collaborative ( AAC ). It deploys £ 123 million to accelerate the testing and evaluation of the most promising AI technologies that meet the aims set out in the NHS Long Term Plan .
It can accelerate early diagnosis
Early diagnosis is key in the field of rare diseases , for a number of reasons . Not only does it ease the suffering of individuals and their families by helping them access the right care and treatment faster , but it also reduces the heavy burden these conditions collectively place on healthcare services and staff .
According to our findings , it ’ s estimated that MendelScan can detect undiagnosed diseases 4.4 years earlier than current standard care – indicating huge potential to deliver a range of benefits .
Additionally , we ’ re hoping to identify patients who may never have been identified without technology such as ours .
Our 40 + validated case-finding algorithms cover a wide array of diseases , from ultrarare diseases , like Fibrodysplasia Ossificans Progressiva ( FOP ), to more prevalent , yet still rare , diseases such as Duchenne Muscular Dystrophy ( DMD ).
Last year , five possible cases of X-Linked Hypophosphatemia ( XLH ) were identified via MendelScan technology and all of these cases were moved forward by clinical
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