Pilot study shows promise for genome sequencing in newborn screening, but parental understanding lags

Integrating rapid genome sequencing and the BeginNGS platform into newborn screening shows potential for early detection of severe genetic disorders, but there remains a significant challenge in ensuring that parents fully understand the test results, according to a poster presented at the 2024 ASHG Annual Meeting.

Conducted in a level IV NICU, the study included 120 newborns who were not initially suspected of having genetic conditions.

Participants received standard rapid diagnostic genome sequencing (RDGS) and the AI-powered platform BeginNGS into newborn screening (NBS), and analysis using BeginNGS, which examines approximately 54,000 genetic variants linked to over 400 disorders and provides management guidance. Results were returned to neonatologists and primary care pediatricians within 2 weeks. Findings from RDGS were reported in 28% of newborns, with 13 cases likely to impact clinical management. BeginNGS identified positive findings in 5% of cases.

Surveys conducted with parents revealed high satisfaction rates, with 90% reporting satisfaction and 88% finding the genomic results useful. However, only 64% of respondents fully understood the test results.

Reference
Schleit J, et al. An exploratory prospective clinical trial of 120 neonates in BeginNGS, an artificial intelligence-enabled newborn genome sequencing system of 412 childhood genetic disorders. Poster presented at: ASHG Annual Meeting; November 5-9, 2024; Denver, CO.