Next generation sequencing for newborn screening: are we there yet?

Abstract

Screening programs for asymptomatic newborns (newborn screening - NBS) have increasingly been implemented in many westernized countries since the end of the 20th century (Wilson et al., 2010). The major goal of these programs is to unselectively screen all newborns for a well defined group of severe, rare, clearly identifiable and actionable conditions. These conditions should be diagnosed and treated in a timely fashion to ensure short and long term health of the newborn as an infant and an adult. As such, NBS programs are one of the pivotal public health achievements of the past decade (Centers for Disease Control and Prevention, 2011) that have led to the saving of lives and improving quality of life as well as posing less financial burden on the health care system. Technically the currently practiced screening process is performed 48 hours after birth, using a minute amount of blood collected on a dried blood spot card, which is subsequently subjected to biochemical analysis predominantly using mass spectrometry assays.