Genetic Newborn Screening for Retinoblastoma: A Belgian Initiative Baby Detect.

Paulina Bartoszek, François Boemer, Kristine Hovhannesyan, Valérie Jacquemin, Flavia Piazzon, Davood Mashhadizadeh, Vincent Bours, Laura Helou, Vincent Rigo, Nadège Hennuy, Tamara Dangouloff, Laurent Servais

Journal: International ophthalmology clinics 2025;65(4):47-50

PMID: 40993898

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Abstract

Baby Detect Project, started in September 2022, aimed to create a newborn screening test using targeted next-generation sequencing for all early-onset, treatable, and serious conditions. The elaborated gene panel covers 405 genes, associated with 165 genetic conditions, and includes RB1, linked to retinoblastoma, the only oncological disease tested for. Germline RB1 mutations concern around 50% of all retinoblastoma cases and 100% of the most severe, bilateral cases. Ninety percent of them occur de novo, which delays the diagnosis by about a year with subsequent loss of vision and sometimes the eye itself. Detecting children with germline RB1 mutation at birth would greatly improve functional and anatomic outcomes, limiting invasive treatments and general anesthesias through early childhood. We discuss herein the novel approach of population screening, the rationale for newborn testing for RB1 mutations, the incidence of expected cases, the reliability of the test and its costs. The next step is to move to a nation-scale population; this initiative marks a landmark in retinoblastoma patients' care.

Address: Department of Ophthalmology, University Hospitals Saint-Luc, Institut Roi Albert II, UCLouvain, Brussels.; Biochemical Genetics Lab, Department of Human Genetics, CHU Liege, University of Liege.; Human Genetics Laboratory, GIGA-R Institute, University of Liege.; Independent Researcher.; Department of Human Genetics, CHU Liege, University of Liege.; Bioinformatics Unit, Department of Human Genetics, CHU Liege, University of Liege.; Department of Neonatology, CHU Liège, CHR de la Citadelle, University of Liège.; Department of Pediatrics, Division of Child Neurology, Reference Center for Neuromuscular Diseases, CHU Liege, University of Liege, Liege, Belgium.; Department of Pediatrics, Division of Child Neurology, Reference Center for Neuromuscular Diseases, CHU Liege, University of Liege, Liege, Belgium.; Department of Pediatrics, MDUK Neuromuscular Center, University of Oxford, Oxford, UK.

DOI: 10.1097/IIO.0000000000000593

MeSH Terms: Humans, Retinoblastoma, Neonatal Screening, Retinal Neoplasms, Infant, Newborn, Genetic Testing, Belgium, Retinoblastoma Binding Proteins, Germ-Line Mutation, Ubiquitin-Protein Ligases