Genomic sequencing to screen newborns raises more false alarms than routine blood tests

August 2020

In this study led by UCSF researchers, exome sequencing was found to produce more false positives and false negatives for inherited metabolic disorders than the standard blood testing conducted in newborns. G2P’s Dr. Robert Green, co-leader of the BabySeq Project, speaks to the possibility “that the most comprehensive screening for newborns will be some combination of conventional newborn screening and a future where we are able to quickly, safely, efficiently sequence all newborns.”