Over the last two decades, the ability to sequence a person's genetic code has improved
exponentially, while the cost of doing so has plummeted. As genome sequencing is used …

Challenges of using whole genome sequencing in population newborn screening | The BMJ
Skip to main content Intended for healthcare professionals Access provided by Google Indexer …

Background: An inconclusive diagnosis of cystic fibrosis (CF) after positive newborn
screening (NBS) may cause parental distress. We compared the psychological impact of CF …

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 …

There is increasing interest in using extended genetic sequencing (EGS) in newborn
screening (NBS) for cystic fibrosis (CF). How this is implemented will change the number of …

The project aimed to gather, analyse, and compare the views of stakeholders about the
proposed UK cystic fibrosis (CF) screening protocol incorporating next generation …

Newborn bloodspot screening (NBS) is currently undergoing a 'revolution'(Spiekerkoetter et
al., 2023). The development of new therapies (Vockley et al., 2023) and the piloting of whole …

Introduction This work describes a secondary analysis of a qualitative data set originally
used to understand parent participants' preferences for the design and implementation of a …

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 …

Drawing on three years of ethnographic engagement with the rare disease community in the
United Kingdom and Europe, this article explores the experiences of families who seek and …