newborn screening
Research Triangle Institute Partners With GeneDx, Illumina for Expanded Newborn Screening Study
The study will offer whole-genome sequencing and genetic risk scores for type 1 diabetes for newborns born in North Carolina.
Monogenic Conditions Detected by Panel Sequencing of General Newborn Population
Researchers demonstrated that targeted gene panel sequencing is an effective first-tier method for newborn screening, providing an avenue to expand the conditions considered.
Initial results from a multinational rapid WGS newborn screening program are promising, though organizers hope to create a longitudinal study to support potential clinical uptake.
BabySeq Project Unearths Actionable Genetic Variants Impacting Infants, Parents
Researchers saw monogenic disease-related mutations in almost 11 percent of infants' genomes, prompting further testing and management, including for family members.
Experts Endorse Universal Genomic Screening of Monogenic, Treatable Diseases in Newborns
This survey recorded responses from 238 experts and found that 85 percent of them recommend a list of 25 genes-disease pairs to be screened in newborns.