New Study Validates the Usefulness of Genomic Medicine in Children with Neurologic Disorders

December 5, 2014

(Medical Xpress) – Results from more than 100 families with children affected by a broad range of neurologic and developmental disorders who underwent genomic testing to end their quest for a diagnosis, were published today in Science Translational Medicine. This is the first study to show that a genome-based diagnostic approach directly impacts patient care of both infants and older children with neurologic disorders. Forty-five percent of families received a diagnosis by exome or genome sequencing, fifty percent of those diagnosed had a change in clinical impression or management and, in older children, genome-based diagnosis could have cut the wait for a diagnosis by more than six years.