Drivers in rapid genetic diagnostics for rare diseases in infants

Describing systems and drivers contributing to rapid turnaround time for genetic testing in a NICU setting

While individually rare, inherited and de novo genetic disorders collectively affect >5% of newborns. They are difficult to diagnose due both to their rarity and the large number of potential underlying causes.

Rapid Next-Generation Sequencing (NGS) approaches have the potential to drastically shorten the time-to-diagnosis for these patients, and are being tested and trialed by various health systems. 

This report describes several rapid NGS workflows, identifies limiting steps, and provides background information on potential design decisions.