PDF(Pubmed)
Abstract：
Screening newborns using genome sequencing is being explored due to its potential to expand the list of conditions that can be screened. Previously, we proposed the need for large-scale pilot studies to assess the feasibility of screening highly penetrant genetic neurodevelopmental disorders. Here, we discuss the initial experience from the GUARDIAN study and the systemic gaps in clinical services that were identified in the early stages of the pilot study.
摘要：
正在探索使用基因组测序筛选新生儿，因为它有可能扩大可以筛选的条件列表。以前,我们提出需要进行大规模的试点研究,以评估筛查高穿透性遗传性神经发育障碍的可行性.这里,我们讨论了GUARDIAN研究的初步经验,以及在试点研究的早期阶段发现的临床服务的系统性差距.
