An AI-driven genetic analysis platform can identify the causative mutation for diseases with 93.1% sensitivity – making each diagnosis in two minutes consistently across ages and ethnicities.
A breakthrough in AI-run genetic analysis has successfully cut the time taken to identify rare diseases – and will significantly reduce lab testing costs, tackle bottlenecks and improve patient care.
Nostos Genomics has announced the results of a clinical validation study conducted using data from Genomics England’s 100,000 Genomes Project.
The trial, which used clinical data from real world cases, found that Nostos Genomics’ solution ‘AION’ could identify the causative mutation for diseases with 93.1% sensitivity – which they say is comparable to human analysis.
However, AION was able to make each diagnosis in only two minutes.
Machine learning for genetic disease
Until now, the process has been undertaken manually by specialised variant scientists. This makes variant interpretation time-consuming, costly, and prone to variability in results.
But machine learning algorithms are now being used to automate the process in genetic testing known as variant interpretation, which can identify disease-causing mutations in patients’ DNA.
AI: deeper insights into genetic testing data
The successful trial of AION also showcases how machine learning solutions can be applied to genetic testing data at scale to reveal much deeper insights and value around the mutations that cause disease.
For example, it has already identified a variant as potentially pathogenic, while other criteria and databases ranked its significance as uncertain. This variant was then confirmed as causative after further studies and clinical trials.
Dr Kristina Ibanez, head of computational genomics said: “This study confirms that our AI-driven solution can transform genetic testing across the world.
“By speeding up results interpretation through automation we will significantly cut costs for labs, free up resources and, crucially, improve patient care.”
Genetic testing to be more “widely available”
Dr. Rocío Acuña Hidalgo, co-founder and CTO added: “Genetic diseases impact the lives of so many people and, tragically, many never get diagnosed.
“The cost of genetic sequencing has fallen rapidly which should make it much more accessible, however, the tools to interpret results have lagged far behind.
“By tackling this bottleneck, genetic testing will become much more widely available and people with genetic disease will get the care and support they need.”
The results are the first part of the study with Genomics England with the next trial involving data from more than 2,000 families from the 100,000 Genomes Pilot Project.
Nostos Genomics’ CE-IVD certified procedure has already been launched Europe-wide, patent proceedings for Nostos technology are pending in the USA.
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