In a neonatal intensive care unit, a diagnosis that arrives in five weeks is often a diagnosis that arrives too late. Treatment decisions have already been made. Procedures have already happened. Sometimes the child has already died.
A program in Dubai has now published what happens when that timeline collapses. Across 100 critically ill infants and children, rapid whole-genome sequencing returned results in a median of 3.4 days. In a matched group of patients treated at the same hospitals before the program existed, standard genetic testing took a median of 38 days.