ESPEYB25 2. Antenatal and Neonatal Endocrinology Genomic Screening, New Gene Associations (3 abstracts)
2.7. Population-based, first-tier genomic newborn screening in the maternity ward
François Boemer , Kristine Hovhannesyan , Flavia Piazzon , Frédéric Minner , Myriam Mni , Valérie Jacquemin , Davood Mashhadizadeh , Noor Benmhammed , Vincent Bours , Adeline Jacquinet , Julie Harvengt , Saskia Bulk , Vinciane Dideberg , Laura Helou , Leonor Palmeira , Tamara Dangouloff , Baby Detect Expert Panel & Laurent Servais
Nat Med 2025 Apr 31(4):1339-1350.doi: 10.1038/s41591-024-03465-x
Brief Summary: Newborn screening (NBS) is rapidly expanding in developed countries to include more rare diseases that can be treated successfully if identified early, as long as the criteria for adding them includes a reliable and cost-effective analytical method. This paper reports the first 18 months results in 3,847 screened babies (M=F) from the Belgian observational study, BabyDetect (ClinicalTrials.gov:NCT05687474), which uses a gene panel of ~400 genes (165 diseases) and an algorithm that discards those likely benign and variants of unknown significance. ~4,000-11,000 variants were inferred for each baby; only variants known to be associated with disease were reported. Direct cost was 365 Euros per baby, and turnaround time by the end of study period was 51 days. If a conventional NBS test was not available for comparison, reanalysis added an additional 3 weeks.
Main findings:A total of 71 cases were flagged for a pathogenic variant; only 41/71 were reported through conventional NBS. 44/71 had glucose-6-phosphate dehydrogenase deficiency. Only 1 false negative was recorded because the pathogenic variant did not appear in their curated list (it was added subsequently). Of the 30 cases not reported through NBS, they were all actionable but with varying degrees of intervention necessary since: 1) some caused milder disease phenotypes, 2) some were actionable through preventive measures or 3) some required surveillance. The challenges are multiple including complex analytic algorithms, enormous data storage capacity, the need to continually revise variant lists and the people power necessary to oversee result transmission and patient care, including counselling. But genomic newborn screening has undoubtedly begun, at least in countries that can afford it.
Volume 22
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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