genomic; newborn screening; targeted next-generation sequencing; treatable disease; Pediatrics, Perinatology and Child Health
Abstract :
[en] [en] PURPOSE: Genomic newborn screening programs are emerging worldwide. With the support of the local pediatric team of Liege, Belgium, we developed a panel of 405 genes that are associated with 165 early-onset, treatable diseases with the goal of creating a newborn screening test using targeted next-generation sequencing for all early-onset, treatable, and serious conditions.
METHODS: A process was developed that informed the future parents about the project and collected their consent during a face-to-face discussion with a trained investigator. The first baby was screened on 1 September 2022. The main objective of the study was to test the feasibility and the acceptability of targeted sequencing at birth as a first-tier newborn screening approach to detect treatable genetic conditions or genetic conditions for which a pre-symptomatic or early symptomatic clinical trial is available.
RESULTS: As of 20 June 2024, the parents of 4425 children had been offered the test; 4005 accepted (90.5%) and 420 refused (9.5%). The main reasons for refusal were the research nature of the project and the misunderstanding of what constitutes genetic conditions.
CONCLUSIONS: These data demonstrate the high acceptability of genomic newborn screening in a properly informed population.
Disciplines :
Pediatrics
Author, co-author :
Dangouloff, Tamara ; Université de Liège - ULiège > Département des sciences cliniques
Hovhannesyan, Kristine ; Université de Liège - ULiège > Département des sciences cliniques > Neuropédiatrie
Mashhadizadeh, Davood; Neuromuscular Reference Center, Department of Pediatrics, University Hospital Liege, University of Liege, 4000 Liege, Belgium
MINNER, Frédéric ; Centre Hospitalier Universitaire de Liège - CHU > > Service de pédiatrie
Mni, Myriam ; Université de Liège - ULiège > GIGA > GIGA Medical Genomics - Unit of Animal Genomics
Helou, Laura ; Université de Liège - ULiège > Département des sciences cliniques
Piazzon, Flavia; Neuromuscular Reference Center, Department of Pediatrics, University Hospital Liege, University of Liege, 4000 Liege, Belgium
Palmeira, Leonor ; Université de Liège - ULiège > Département des sciences cliniques
Boemer, François ; Université de Liège - ULiège > Département de pharmacie > Chimie médicale
Servais, Laurent ; Université de Liège - ULiège > Département des sciences cliniques ; MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford OX1 3QR, UK
Language :
English
Title :
Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium.
Publication date :
30 July 2024
Journal title :
Children
eISSN :
2227-9067
Publisher :
Multidisciplinary Digital Publishing Institute (MDPI), Switzerland
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