UK-based Mendelian is preparing further trials of its AI case-finding tool for diagnosing rare diseases at scale after being awarded $1.4 million from a national health innovation grant making body.
The Artificial Intelligence in Health and Care Awards (AI Awards), selected Mendelian as one of nine recipients in its latest round of awards, which invested £16 million into "pioneering artificial intelligence research."
NHS AI Lab, an R&D initiative of the UK national health service, runs the AI Awards in partnership with medical research agency National Institute for Health and Care Research and Accelerated Access Collaborative.
Dr Peter Fish, Mendelian CEO, comments: "It’s incredibly exciting to win this award, to see the NHS taking bold steps to solving one of the most complex challenges in modern medicine.
"This will unlock our journey towards shifting the way healthcare systems improve care for rare disease patients, delivering benefit to the NHS, the doctors who use the tool and, most importantly, everyone of us as health service users."
With its MendelScan algorithm, Mendelian compares symptoms of more than 100 rare pathologies with disease data from large batches of electronic patient health records. In this way, it's able to move towards rare disease diagnoses across large groups of patient caseloads.
There's a 1 in 17 chance a person will suffer from rare disease. Complex, disconnected symptoms make diagnosis extremely challenging.
Mendelian estimates 3.5 million people in the UK are living with an undiagnosed rare condition. The challenges in diagnosis mean that, typically, these patients wait over five years for confirmation having first seen multiple doctors and been given several inaccurate diagnoses.
According to Murdoch Children's Research Institute at least one in 12 babies inherits a rare genetic condition. Of those, 30% of children will die before reaching five years old causing the parents acute anguish.
The NHS AI project shows UK public health bodies' are optimistic about the prospect for tech to improve patient outcomes. While many European countries use a form of public-funded health insurance — Italy, Portugal and Malta being notable exceptions — the UK's universal health provider is the largest state-owned umbrella health body in the world. For all of its challenges, arguably it has a wonderful opportunity to develop AI based on anonymised patient data.
The advent of deep learning meant to scrutinise complex medical imagery and pathology has given humanity an unprecedented chance to address rare disease, while future tech like quantum computing could provide a booster to medical diagnosis in years ahead.