OP020: Demonstrating the value of genome sequencing in a pediatric neurology cohort: A successful partnership between a patient organization and industry

Approximately 2-6% of the population have a rare disease and nearly half of these impact children. Up to 80% of rare diseases have a genetic etiology and a majority have an associated neurological phenotype. The diagnostic odyssey can involve 2-3 misdiagnoses and last up to 5-7 years. Genome sequencing (GS) is a powerful diagnostic tool for pediatric rare disease as it offers the most comprehensive detection of multiple variant types in a single workflow and can reduce the time to result compared to traditional genetic testing.