Accuracy of artificial intelligence in prompt diagnosis of rare diseases in critically ill patients is demonstrated by benchmark genome study.

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

Reliability of AI 




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.
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.
Advertisement