Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels.
Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels.
复制标题
新生儿筛查小组中添加严重联合免疫缺陷的测序经验教训。
DOI：
10.1002/hast.875
复制
发表时间：
2018
期刊：
影响因子：
--
通讯作者：
Puck,JenniferM
中科院分区：
文献类型：
--
作者：
Puck,JenniferM
目前已被广泛采用，SCID新生儿筛查已被证明对早期识别和治疗SCID有效。此外，筛查提高了我们对SCID和相关疾病的理解，这些疾病比最初认为的更加多样化。新生儿SCID筛查表明，如果遵循循证指南，如果有机制跟踪结果并沿着学习，在新生儿筛查小组中添加新的疾病将是非常有益的。这些经验教训应该指导所有新生儿筛查的补充，包括那些涉及测序。
Now widely adopted, SCID newborn screening has proven effective for early identification and treatment of SCID. In addition, screening has improved our understanding of SCID and related disorders, which are more diverse than originally believed. Newborn screening for SCID illustrates how adding new disorders to newborn screening panels can be enormously beneficial if evidence‐based guidelines are adhered to and if mechanisms are in place to track outcomes and learn along the way. These lessons should guide all additions to newborn screening, including those involving sequencing.