Whole Genome Sequencing and Newborn Screening.
Whole Genome Sequencing and Newborn Screening.
复制标题
全基因组测序和新生儿筛查。
DOI：
10.1007/s40142-016-0084-3
复制
发表时间：
2016
影响因子：
2.1
通讯作者：
Rothwell,Erin
中科院分区：
文献类型：
--
作者：
Botkin,JeffreyR;Rothwell,Erin
下一代测序的临床应用正在以惊人的速度增长。目前，基因测试在医学上的最大应用是通过州政府强制的公共卫生计划进行新生儿筛查，有建议称，测序可能在未来十年内成为新生儿护理的标准组成部分。因此，新生儿筛查似乎是在种群水平上探索全基因组和整个外显子组测序的一个合乎逻辑的起点。然而，强制性公共健康筛查计划的使用存在许多伦理、社会和法律影响，这给在这种背景下使用测序技术带来了挑战。此外，目前我们对管理基因组数据的理解和策略仍然有限，这支持了我们的结论，即基因组测序在基于人群的新生儿筛查公共卫生计划中是不合理的。
Clinical applications of next-generation sequencing are growing at a tremendous pace. Currently, the largest application of genetic testing in medicine occurs with newborn screening through state-mandated public health programs, and there are suggestions that sequencing could become a standard component of newborn care within the next decade. As such, newborn screening may appear to be a logical starting point to explore whole genome and whole exome sequencing on a population level. Yet, there are a number of ethical, social, and legal implications about the use of a mandatory public health screening program that create challenges for the use of sequencing technologies in this context. Additionally, at this time we still have limited understanding and strategies for managing genomic data, supporting our conclusion that genome sequencing is not justified within population-based public health programs for newborn screening.