Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening
Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening
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DOI：
10.1101/cshperspect.a023150
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发表时间：
2015-12-01
影响因子：
5.4
通讯作者：
Powell, Cynthia M.
中科院分区：
文献类型：
--
作者：
Berg, Jonathan S.;Powell, Cynthia M.
自20世纪60年代新生儿筛查（NBS）开始以来，技术进步使其扩展到包括越来越多的疾病。最近的发展现在使得相对快速和经济地对婴儿的基因组进行测序成为可能。全外显子组和全基因组测序的临床应用正在快速扩展，但存在许多挑战。其在NBS中的效用尚未得到证实，其在儿科人群中的应用需要检查，不仅是潜在的临床益处，而且还存在独特的伦理挑战。
Since newborn screening (NBS) began in the 1960s, technological advances have enabled its expansion to include an increasing number of disorders. Recent developments now make it possible to sequence an infant's genome relatively quickly and economically. Clinical application of whole-exome and whole-genome sequencing is expanding at a rapid pace but presents many challenges. Its utility in NBS has yet to be demonstrated and its application in the pediatric population requires examination, not only for potential clinical benefits, but also for the unique ethical challenges it presents.