Newborn screening for treatable disorders is one of the great public health success stories
of the twentieth century worldwide. This commentary examines the potential use of a new …

Importance Genomic newborn screening (gNBS) may optimize the health and well-being of
children and families. Screening programs are required to be evidence based, acceptable …

Genomic sequencing provides many opportunities in newborn clinical care, but the
challenges of interpreting and reporting newborn genomic sequencing (nGS) results need to …

Importance Newborn genome sequencing (NBSeq) can detect infants at risk for treatable
disorders currently undetected by conventional newborn screening. Despite broad …

Newborn screening (NBS) is a population-based program with a goal of reducing the
burden of disease for conditions with significant clinical impact on neonates. Screening tests …

Importance Newborn genomic sequencing (nGS) may provide health benefits throughout
the life span, but there are concerns that it could also have an unfavorable (ie, negative) …

Genome sequencing is enabling precision medicine—tailoring treatment to the unique
constellation of variants in an individual's genome. The impact of recurrent pathogenic …

Introduction: With increasing utility and decreasing cost of genomic sequencing,
augmentation of standard newborn screening (NBS) programs with newborn genomic …

Since the introduction of genome sequencing in medicine, the factors involved in deciding
how to integrate this technology into population screening programs such as Newborn …

Screening for rare diseases first began more than 50 years ago with neonatal bloodspot
screening (NBS) for phenylketonuria, and carrier screening for Tay-Sachs disease, sickle …