Newborn screening with targeted sequencing: a multicenter investigation and a pilot clinical study in China

入射(几何) 生物 新生儿筛查 儿科 DNA测序 全基因组测序 中国 医学 基因 遗传学 基因组 政治学 光学 物理 法学
作者
Chanjuan Hao,Ruolan Guo,Xuyun Hu,Zhan Qi,Qi Guo,Xuanshi Liu,Yuanhu Liu,Yanhua Sun,Hui Cong,Feng Jin,Xiujie Wu,Ren Cai,Dingyuan Zeng,Xi-Jiang Hu,Wang Xiao-hua,Xiaoping Ji,Wenjie Li,Fachun Jiang,Lanfang Mu,Jiang Xiu-lian,Yang Xue,Weimin Yang,Yan Zhang,Qianli Yin,Xin Ni,Wei Li
出处
期刊:Journal of Genetics and Genomics [Elsevier BV]
卷期号:49 (1): 13-19 被引量:25
标识
DOI:10.1016/j.jgg.2021.08.008
摘要

Different newborn screening (NBS) programs have been practiced in many countries since the 1960s. It is of considerable interest whether next-generation sequencing is applicable in NBS. We have developed a panel of 465 causative genes for 596 early-onset, relatively high incidence, and potentially actionable severe inherited diseases in our Newborn Screening with Targeted Sequencing (NESTS) program to screen 11,484 babies in 8 Women and Children's hospitals nationwide in China retrospectively. The positive rate from preliminary screening of NESTS was 7.85% (902/11,484). With 45.89% (414/902) follow-up of preliminary positive cases, the overall clinically confirmative diagnosis rate of monogenic disorders was 12.07% (50/414), estimating an average of 0.95% (7.85% × 12.07%) clinical diagnosis rate, suggesting that monogenic disorders account for a considerable proportion of birth defects. The disease/gene spectrum varied in different regions of China. NESTS was implemented in a hospital by screening 3923 newborns to evaluate its clinical application. The turn-around time of a primary report, including the sequencing period of < 7 days, was within 11 days by our automatic interpretation pipeline. Our results suggest that NESTS is feasible and cost-effective as a first-tier NBS program, which will change the status of current clinical practice of NBS in China.
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