Genomic Newborn Screening Is Feasible, Highly Acceptable and Clinically Actionable: Lessons from the BabyScreen+ Cohort
Highlights
– In a prospective cohort of 1,000 newborns (BabyScreen+), whole‑genome sequencing (WGS) targeted to 605 genes from dried blood spot cards identified 16 infants (1.6%) with high‑chance actionable variants.
– Average time to genomic newborn result was 13 days; only one of these infants would have been detected by standard newborn screening.
Sign in free to continue reading
Create or use your MedXY account to unlock the complete article.
This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication.