Large Scale Next Generation Sequencing and Newborn Screening: Are We Ready?

Newborn screening (NBS) is a public health program that aims to identify children with medically actionable conditions prior to becoming symptomatic and provide interventions that result in improvement of long-term outcomes. Over the past decades, a number of conditions have been gradually added to the screening panels. Significant expansion of NBS happened in the mid-1990s to early 2000s when tandem mass spectrometry became available and was applied to detecting biochemical genetic conditions. Several organizations were established to ensure that NBS is standardized and uniformed.
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Tags: Editorials Source Type: research