Sci. Transl. Med. 11, eaat6177 (2019)

An automated pipeline using genome sequencing can diagnose genetic disease in neonates from dried blood spots in a timeframe that would make a difference in the clinic.

In the United States, the most common cause of death in neonates is genetic disease, and time is of the essence for these critically ill babies to receive relevant therapy. Current sequencing platforms are impractical in the clinic because they take too long and require specialists to interpret the data.

A group of scientists in the United States developed a pipeline that requires minimal human interpretation for neonatal genetic disease diagnosis by combining sequencing of neonate blood spots with the automated interpretation of symptoms from medical records. The median time to diagnosis of 20 hours in their test group of 95 babies shows that with some modification this technology could be used to identify treatments for seriously ill children in the intensive care unit.