Dangouloff Tamara, Hovhannesyan Kristine, Mashhadizadeh Davood, Minner Frederic, Mni Myriam, Helou Laura, Piazzon Flavia, Palmeira Leonor, Boemer François, Servais Laurent
Neuromuscular Reference Center, Department of Pediatrics, University Hospital Liege, University of Liege, 4000 Liege, Belgium.
Biochemical Genetics Lab, Department of Humans Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium.
Children (Basel). 2024 Jul 30;11(8):926. doi: 10.3390/children11080926.
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.
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.
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.
These data demonstrate the high acceptability of genomic newborn screening in a properly informed population.
基因组新生儿筛查项目正在全球范围内兴起。在比利时列日当地儿科团队的支持下，我们开发了一个包含405个基因的检测组合，这些基因与165种早发性可治疗疾病相关，目标是利用靶向新一代测序技术创建一种针对所有早发性、可治疗和严重疾病的新生儿筛查检测方法。
制定了一个流程，在与经过培训的研究人员进行面对面讨论时，向准父母介绍该项目并征得他们的同意。2022年9月1日对第一名婴儿进行了筛查。该研究的主要目的是测试出生时进行靶向测序作为一级新生儿筛查方法来检测可治疗的遗传疾病或有症状前或早期症状临床试验的遗传疾病的可行性和可接受性。
截至2024年6月20日，已向4425名儿童的父母提供了该检测；4005人接受（90.5%），420人拒绝（9.5%）。拒绝的主要原因是该项目的研究性质以及对什么构成遗传疾病的误解。
这些数据表明，在信息充分的人群中基因组新生儿筛查具有很高的可接受性。
