Clinical application of 24-hour ultra-rapid genome sequencing in a critically ill neonate

Genome sequencing (GS) has emerged as a powerful diagnostic tool in several patient populations. For example, in critically ill neonates, genetic disease often presents with few clinical features and disease progression can be rapid. Standard genetic testing strategies can take months or weeks to complete and many neonates die or are discharged before a diagnosis is obtained. Outside of China, application of rapid GS in critically ill infants has been shown to have both diagnostic and clinical utility.