Rapid whole-genome sequencing in critically Ill children: shifting from unease to evidence, education, and equitable implementation.
作者信息
Franck Linda S, Dimmock David, Hobbs Charlotte, Kingsmore Stephen F
机构信息
Department of Family Health Care Nursing, University of California San Francisco, San Francisco, California.
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California.
出版信息
J Pediatr. 2021 Nov;238:343. doi: 10.1016/j.jpeds.2021.08.006. Epub 2021 Aug 11.
Abstract
摘要
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本文引用的文献
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Sources of Unease About the Use of Genome Sequencing for Diagnosing Rare Diseases in Children.对使用基因组测序诊断儿童罕见病的担忧来源。
J Pediatr. 2021 Oct;237:13-15. doi: 10.1016/j.jpeds.2021.06.042. Epub 2021 Jun 21.
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Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.“熊宝宝计划”：在加利福尼亚的 5 家儿童医院中采用 rWGS（靶向全基因组测序）进行快速精准医疗，改善了临床结果并降低了医疗成本。
Am J Hum Genet. 2021 Jul 1;108(7):1231-1238. doi: 10.1016/j.ajhg.2021.05.008. Epub 2021 Jun 4.
3
Implementing Rapid Whole-Genome Sequencing in Critical Care: A Qualitative Study of Facilitators and Barriers to New Technology Adoption.在重症监护中实施快速全基因组测序：新技术采用的促进因素和障碍的定性研究。
J Pediatr. 2021 Oct;237:237-243.e2. doi: 10.1016/j.jpeds.2021.05.045. Epub 2021 May 21.
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A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants.一项针对重症婴儿家长对快速全基因组和外显子组测序认知的前瞻性研究。
Am J Hum Genet. 2020 Nov 5;107(5):953-962. doi: 10.1016/j.ajhg.2020.10.004.
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An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.一项针对重病婴儿的快速基因组测序的 RCT 研究结果显示其具有高度临床实用性，可改变治疗方法，且被认为造成的伤害较低。
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