Artificial Intelligence (AI) Aids in Prompt Diagnosis of Rare Diseases

Accuracy of artificial intelligence in prompt diagnosis of rare diseases in critically ill patients is demonstrated by a benchmark genome study “Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases”, at the Rady Children's Institute For Genomic Medicine®, as published in the journal Genome Medicine.

It was shown that more than 90% of disease-causing variants in infants with rare diseases were detectable using the Fabric GEM AI algorithm and whole-genome and whole-exome data across six leading genomic centers and hospitals examined.

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‘Accuracy of artificial intelligence (AI) in prompt diagnosis of rare diseases in critically ill patients is demonstrated by Benchmark genome study. ’

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The whole-exome data was extracted from previously diagnosed newborns and rare disease patients at the Rady Children’s Hospital-San Diego and other clinical sites.

“Fast and definitive genetic diagnosis is essential to providing the right treatment in a timely manner for critically ill newborns. Fabric GEM has successfully demonstrated that it can automatically and quickly suggest a very short list of candidate genes for interpretation through whole-genome or whole-exome sequencing,” says Stephen Kingsmore, MD, DSc, a co-author of the study and the President and CEO of Rady Children's Institute for Genomic Medicine.

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In addition, the study also demonstrated the use of Clinithink’s CLiX focus, a natural language processing (NLP) technology applied to medical notes recorded in electronic medical records.

Hence, this study highlights that AI may successfully help reduce the burden of a genetic variant of diseases and assist clinicians in the ultimate diagnosis of each case, especially in scenarios where time is of the essence.

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