Green Nancy S, Pass Kenneth A
March of Dimes Birth Defect Foundation, 1275 Mamaroneck Avenue, White Plains, New York, 10605, USA.
Nat Rev Genet. 2005 Feb;6(2):147-51. doi: 10.1038/nrg1526.
Newborn screening (NBS) is a public-health genetic screening programme aimed at early detection and treatment of pre-symptomatic children affected by specific disorders. It currently involves protein-based assays and PCR to confirm abnormal results. We propose that DNA microarray technology might be an improvement over protein assays in the first stage of NBS. This approach has important advantages, such as multiplex analysis, but also has disadvantages, which include a high initial cost and the analysis/storage of large data sets. Determining the optimal technology for NBS will require that technical, public health and ethical considerations are made for the collection and extent of analysis of paediatric genomic data, for privacy and for parental consent.
新生儿筛查（NBS）是一项公共卫生基因筛查项目，旨在早期发现和治疗受特定疾病影响的无症状儿童。目前，该筛查涉及基于蛋白质的检测方法和聚合酶链式反应（PCR），以确认异常结果。我们认为，在新生儿筛查的第一阶段，DNA微阵列技术可能比蛋白质检测方法更具优势。这种方法具有多重分析等重要优点，但也有缺点，包括初始成本高以及需要对大量数据集进行分析和存储。确定新生儿筛查的最佳技术需要在收集和分析儿科基因组数据的范围、隐私以及父母同意等方面进行技术、公共卫生和伦理考量。
