Clinical utility and implementation of genomic newborn screening: findings from the SNUseq Baby Project

Genome sequencing analyzed through a 419-gene panel curated on age at onset, severity, the existence of an asymptomatic window and local treatment availability

This prospective multicenter pilot study, conducted from November 2025 to February 2026 within the Seoul National University Hospital network, sequenced the genomes of 399 newborns, including 385 inborn neonates and 14 referred for abnormal conventional screening results. A 419-gene panel had been curated by a multidisciplinary team based on age at onset, disease severity, the existence of an asymptomatic window and local availability of effective treatment. The screen-positive rate was 1.3% (5 of 393): two cases with SLC25A15 and MYO15A variants had been missed by conventional screening, and three involved arrhythmia-associated genes, outside its scope. All 49 neonates with abnormal conventional screening results were negative on genomic screening, and the median turnaround time from sampling to final report was 26 days.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

The most instructive finding is the discordance in both directions: genomic screening recovers missed cases and opens categories beyond the reach of biochemistry, yet confirms none of the 49 abnormal conventional screens, a reminder that the two approaches do not measure the same thing. With 399 newborns, the sample is too small to estimate a false-positive rate or positive predictive value in the general population. A 26-day median turnaround remains long for conditions whose therapeutic window is neonatal.

Analysis by Dr Thibaut Benquey