Genome sequencing finds diagnoses in 15% of unsolved epilepsy cases

A large group study looked at individuals with developmental and epileptic encephalopathies who had not received a diagnosis after standard genetic testing. The researchers examined 242 participants who had previously tested negative using exome or gene panel analysis. They added genome sequencing along with enhanced variant analyses that look outside of coding regions to their testing process. This approach helped find a molecular diagnosis for 36 of the 242 participants, which is 15% of the group. The study used a cohort design to compare these new results against the earlier negative findings. No safety concerns were reported in the study data provided. This type of testing may help explain conditions that were previously considered unsolved. Readers should note that this is a cohort study and the results reflect a specific group of patients. While the findings are promising, they apply to people with unsolved cases who have already had negative standard tests. The main takeaway is that expanded genetic testing can find answers in a meaningful portion of difficult cases.