New AI technology offers hope to children born with rare genetic disorders
Birth Defects
Artificial intelligence is offering new hope to families of children born with rare genetic disorders.
Scientists have developed an AI-based technology that can diagnose rare disorders in critically ill children, a new study published in Genome Medicine reported. Determining the cause of the genetic disease gives clinicians the knowledge and tools to deliver the right treatment sooner, potentially saving thousands of lives.
Nearly 8 million babies worldwide are born with a genetic birth defect, according to the National Center for Biotechnology Information. Of those infants, an estimated 3.3 million children under the age of five die from those defects.
“Fast and definitive genetic diagnosis is essential to providing the right treatment in a timely manner for critically ill newborns,” said Dr. Stephen Kingsmore, a co-author of the study and the president and CEO of Rady Children’s Institute for Genomic Medicine in San Diego.
Genetic disorders occur when a mutation affects genes or there is the wrong amount of genetic material. Genes are made of DNA, which contain instructions for cell functioning and the characteristics that make each person unique.
You receive half your genes from each biological parent and may inherit a gene mutation from one parent or both. Sometimes genes change or mutate due to issues within the DNA. This can raise the risk of having a genetic disorder. Some cause symptoms at birth, while others develop over time.
Environmental factors that can lead to a genetic mutation include chemical exposure, radiation exposure, and other environmental exposures.
Scientists in the study worked with Fabric Genomics to develop the technology called “GEM,” which uses an algorithm incorporating AI to find errors in the DNA that lead to disease. The scientists tested GEM by analyzing whole genomes from 179 previously diagnosed pediatric cases from the children’s hospital in San Diego and five other medical centers worldwide. GEM was able to identify the gene that causes disorders 92% of the time. Existing tools and methods were only able to identify the causative gene 60% of the time, according to the study.
Diagnosing rare disorders requires reading, or sequencing, the 3 billion DNA letters that make up the human genome, which takes a long time. But GEM uses AI to learn from a body of information that continues to grow.
GEM cross-references databases of genomic sequences from various and diverse populations as well as clinical disease information and other repositories of medical and scientific data. Once it has analyzed that information, GEM combines it with the patient’s genome sequence and medical records, according to the study.
Arriving at a diagnosis in 24 to 48 hours after birth gives the tiny patients the best chance to improve their condition.
“Clinicians do not have to sacrifice accuracy for speed when faced with a possible rare disease diagnosis in a critical setting like the NICU where time is of the essence,” said Martin Reese, PhD., CEO of Fabric Genomics and a co-author of the study.
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