The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
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DOI：
10.1038/s41525-018-0045-8
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发表时间：
2018-02-09
影响因子：
5.3
通讯作者：
Kingsmore, Stephen F.
中科院分区：
文献类型：
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作者：
Petrikin, Josh E.;Cakici, Julie A.;Kingsmore, Stephen F.
遗传疾病是新生儿和儿科重症监护病房(NICU/PICU)婴儿发病率和死亡率的主要原因。虽然基因组测序对遗传病诊断是有用的，但结果通常报告得太晚，无法指导住院患者的治疗。我们进行了一项由研究人员发起的、部分盲的、务实的、随机的对照试验，以验证快速全基因组测序(RWGS)增加了NICU/PICU婴儿在28天内接受基因诊断的比例的假设。参与者是有年龄的婴儿的家庭
Genetic disorders are a leading cause of morbidity and mortality in infants in neonatal and pediatric intensive care units (NICU/PICU). While genomic sequencing is useful for genetic disease diagnosis, results are usually reported too late to guide inpatient management. We performed an investigator-initiated, partially blinded, pragmatic, randomized, controlled trial to test the hypothesis that rapid whole-genome sequencing (rWGS) increased the proportion of NICU/PICU infants receiving a genetic diagnosis within 28 days. The participants were families with infants aged