Gene test cuts diagnosis time for devastating childhood brain diseases from years to months

This study tested whether using whole genome sequencing (a complete genetic map) as a first test could diagnose children with rare, inherited brain disorders called leukodystrophies faster and more accurately than the standard step-by-step approach. Researchers enrolled 236 children with unexplained brain scan abnormalities and randomly gave some the new test immediately and others after a delay. The new test provided a diagnosis for many children much quicker than the old method, potentially allowing for earlier and more targeted care.