Early diagnosis is critical in many rare diseases, as earlier intervention leads to better treatment outcomes. Now, diagnosis is becoming easier and quicker through the use of artificial intelligence (AI). According to an article recently published in GEN, a study conducted by Rady Children’s Hospital in San Diego reported that AI-based technology is able to diagnose critically ill children with rare genetic diseases with high accuracy.
AI For Rare Disease Diagnosis
Researchers from the University of Utah, Rady Children’s Hospital, and Fabric Genomics all worked on this study, which was published in Genomic Medicine. It found that an AI-based technology, called Fabric GEM, is going to play a big role in the future of medicine, specifically when it comes to identifying genetic variants.
Understanding the genetics of a patient’s illness is extremely important to offer the best treatment. With AI, doctors can achieve this understanding in an easier and faster way.
In this study, researchers utilized the data of 179 patients who had already been diagnosed with rare, genetic illnesses. These pediatric cases were sourced from six centers across the world, one of which was Rady Children’s Hospital. GEM was used to analyze these patients’ whole genomes. Results found that:
- In 92% of cases, GEM was able to identify the disease-causing gene as one of the top two possible candidates
- It outperformed existing tools
- GEM is able to identify structural variants, which are estimated to cause anywhere from 10%-20% of genetic diseases
This improvement in diagnosis is very important, as it could help critically ill pediatric patients receive treatment sooner. Early treatment results in better outcomes and improved treatment management.
