Jansen Marleen E, Klein Anne W, Buitenhuis Erika C, Rodenburg Wendy, Cornel Martina C
Centre for Health Protection, National Institute for Public Health and the Environment, Utrecht, Netherlands.
Department of Clinical Genetics, Section Community Genetics and Amsterdam Public Health Research Institute, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam, Netherlands.
Front Pediatr. 2021 Feb 22;9:635353. doi: 10.3389/fped.2021.635353. eCollection 2021.
Neonatal bloodspot screening (NBS) programmes that screen for rare but serious conditions are expanding worldwide. Fast developments for testing and treatment put pressure on implementation processes. In 2015 the Netherlands embarked on an NBS expansion from 17 to 31 conditions. An evaluation framework was developed based on international NBS frameworks to gain insight in test properties, clinical findings, follow-up and implementation. A stakeholder process took place with implications for the planning of the expanded NBS panel. The evaluation framework progressed into a framework to start national screening, and is currently explored as basis for continuous evaluation of the NBS panel. The framework and stakeholder process may serve as an example for other programmes.
针对罕见但严重疾病进行筛查的新生儿血斑筛查(NBS)项目正在全球范围内不断扩展。检测和治疗方面的快速发展给实施流程带来了压力。2015年,荷兰开始将NBS筛查的疾病种类从17种扩展至31种。基于国际NBS框架制定了一个评估框架,以深入了解检测特性、临床发现、后续跟进及实施情况。开展了一个利益相关者参与的过程,这对扩展后的NBS检测组合的规划产生了影响。该评估框架已发展成为一个启动全国筛查的框架,目前正作为对NBS检测组合进行持续评估的基础加以探索。该框架及利益相关者参与过程可为其他项目提供范例。