Melbourne Genomics' first clinical projects provided genomic sequencing to 315 patients of The Royal Melbourne Hospital and The Royal Children's Hospital. Our key findings for the Focal epilepsy project were:
Adults (n=28), adolescents and children (n=12) with seizures affecting one side of the brain, unrelated to brain injury or damage.
Diagnosis achieved in 12% of patients; none diagnosed through usual care.
Among diagnosed patients’ relatives, 9 individuals identified with the same epilepsy-causing genetic variant.
Patient Ryan’s genomic result (see highlight story) led to the cancelling of major brain surgery and complete cessation of his severe seizures.