A new study from UT Southwestern quantifies for the first time how quickly rapid advancements in genomics may benefit patients. Research published in JAMA Pediatrics includes a five-year review of more than 300 epilepsy cases that showed nearly a third of children had a change in diagnosis based on new data.
Based on these data, scientists are calling for parents to review gene tests done in children with epilepsy at least every two years to ensure their diagnoses and treatments are based on the latest discoveries. This finding is significant because the leading genome societies have suggested periodic checks but have not recommended how frequently these should be made.
Much remains unknown about the human genome. One widely used database contains about 175,000 “variants of uncertain significance” – approximately double the number of genetic variants believed to cause disease.
Still, the new research shows how quickly scientists are piecing the puzzle together. The study found that 31 percent of the patients received a diagnosis based on a new understanding of their genetic variant within the five-year window. In patients who received a genetic test result as recently as two years prior, researchers still found 25 percent had a disease-causing variant reclassified.