Hastings Cent Rep. 2018 Jul;48 Suppl 2(Suppl 2):S18-S19. doi: 10.1002/hast.878.
Massively parallel sequencing, also known as next-generation sequencing, has the potential to significantly improve newborn screening programs in the United States and around the world. Compared to genetic tests whose use is well established, sequencing allows for the analysis of large amounts of DNA, providing more comprehensive and rapid results at a lower cost. It is already being used in limited ways by some public health newborn screening laboratories in the United States and other countries-and it is under study for broader and more widespread use, including as a core part of newborn screening programs. Sequencing technology has the potential to significantly improve these essential public health programs. For many of the conditions that newborns are already screened for, sequencing can return more specific and more sensitive results. The technology could also enable newborn screening programs to expand the list of rare pediatric conditions that they look for, thereby identifying more infants who can benefit from immediate care.
高通量测序，也被称为下一代测序，有可能极大地改进美国和世界各地的新生儿筛查项目。与已经广泛应用的基因检测相比，测序可以分析大量的 DNA，以更低的成本提供更全面和更快速的结果。它已经在美国和其他国家的一些公共卫生新生儿筛查实验室中以有限的方式使用，并且正在研究更广泛和更广泛的用途，包括作为新生儿筛查计划的核心部分。测序技术有可能极大地改进这些基本的公共卫生计划。对于新生儿已经筛查的许多疾病，测序可以提供更具体和更敏感的结果。该技术还可以使新生儿筛查项目扩大他们寻找的罕见儿科疾病的清单，从而确定更多可以从立即治疗中受益的婴儿。
