Genomic newborn screening using whole-genome sequencing identified 1.6% of infants with high-chance, treatable genetic conditions, far beyond the capacity of standard biochemical screening. The BabyScreen+ study demonstrated clinical impact, cascade diagnoses, and strong parental acceptance, while highlighting challenges in scalability and equity.
How genomic screening in newborns found 16 hidden disorders standard tests overlooked
- Post author:admin
- Post published:October 13, 2025
- Post category:uncategorized