从新生儿筛查面板中添加严重联合免疫缺陷中得到的测序经验。
Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels.
出版信息
Hastings Cent Rep. 2018 Jul;48 Suppl 2(Suppl 2):S7-S9. doi: 10.1002/hast.875.
Abstract
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.
摘要
目前广泛采用的 SCID 新生儿筛查已被证明可有效用于 SCID 的早期诊断和治疗。此外，该筛查提高了我们对 SCID 和相关疾病的认识，这些疾病比最初认为的更为多样化。SCID 的新生儿筛查表明，如果遵循基于证据的指南，并且建立了跟踪结果和学习的机制，那么将新疾病添加到新生儿筛查组中是非常有益的。这些经验教训应该指导所有新生儿筛查的添加，包括涉及测序的添加。
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