Rare diseases are a leading cause of infant mortality and lifelong disability. To improve
outcomes, timely diagnosis and effective treatments are needed. Genomic sequencing has …

The majority of rare diseases affect children, most of whom have an underlying genetic
cause for their condition. However, making a molecular diagnosis with current technologies …

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

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 …

The primary objective of population-based newborn screening is the early identification of
asymptomatic infants with a range of severe diseases, for which effective treatment is …

Health care is transitioning from genetics to genomics, in which single-gene testing for
diagnosis is being replaced by multi-gene panels, genome-wide sequencing, and other …

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 …

Many scientists and doctors hope that affordable genome sequencing will lead to more
personalized medical care and improve public health in ways that will benefit children …

The goal of newborn screening is the diagnosis of treatable disorders early enough to
provide an intervention that will improve outcome. Newborn screening in the United States …

Recent dramatic reductions in the timeframe in which genomic sequencing can deliver
results means its application in time-sensitive screening programs such as newborn …