Language
English
Publication Date
1-1-2025
Journal
International Ophthalmology Clinics
DOI
10.1097/IIO.0000000000000593
PMID
39710905
PMCID
PMC12459132
PubMedCentral® Posted Date
9-25-2025
PubMedCentral® Full Text Version
Post-print
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.
Keywords
Humans, Low-Level Light Therapy, Macular Degeneration, Visual Acuity, genomic newborn screening, Retinoblastoma, precision medicine, population health, genomic newborn screening, Retinoblastoma, precision medicine, population health
Published Open-Access
yes
Recommended Citation
Rodriguez, Daniel A; Song, Alex; Bhatnagar, Anshul; et al., "Genetic Newborn Screening for Retinoblastoma: A Belgian Initiative Baby Detect" (2025). Faculty and Staff Publications. 5509.
https://digitalcommons.library.tmc.edu/baylor_docs/5509