Genomic newborn screening: feasibility, acceptability and clinical outcomes

Incorporating genomic sequencing into newborn screening (NBS) will dramatically increase the number of detectable conditions but evidence is needed to guide policy. The BabyScreen + study screened 1,000 newborns for variants in 605 genes associated with early-onset, severe, treatable conditions using whole genome sequencing performed on dried blood spot cards. Sixteen infants (1.6%) were identified as having high chance results. Of these, only one was detected by standard NBS. Average time to genomic NBS result was 13 days. Clinical impact ranged from instituting preventative measures or surveillance to active management, including transplantation. Twenty relatives received a diagnosis following cascade testing. Median parental decisional regret was low (median 0, IQR 0–10); >99% of participants thought gNBS should be available to all parents. Our study demonstrates the feasibility of clinically accredited gNBS, using a scalable model that is highly acceptable to parents. Future research is needed to address issues of scalability and equity.