Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr.
Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for …

Abstract Whole Genome Sequencing (WGS) in newborn screening is ethically complex.
Parents will provide proxy consent for initial participation and 16-year-olds will be …

Newborn bloodspot screening (NBS) programmes are seen as one of the greatest advances
in public health and undoubtedly do improve the physical health outcomes of many in a way …

The benefits and harms of identifying carriers in childhood have long been debated with
European Guidelines advising against this practice. Yet over a thousand carriers are …

As a neonatologist who cares for critically ill newborns, I can attest to the revolution our field
has seen in its ability to perform complex genomic analyses on our patients that extend far …

Newborn screening using dried blood spot (DBS) samples has made a substantial
contribution to public healthcare by detecting patients with genetic disorders as neonates …

Newborn screening (NBS) is a public health strategy that identifies asymptomatic newborns
at risk for developing pre-selected health conditions. NBS programs enable early …

Abstract Whole Genome Sequencing (WGS) in newborn screening is ethically complex. We
explored the views of young adults and 11–15 year olds to understand the views of the next …