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.

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