On the ethics of clinical whole genome sequencing of children

MayT.; ZusevicsK.L.; StrongK.A.

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On the ethics of clinical whole genome sequencing of children

机译：儿童临床全基因组测序的伦理学

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In 2009, scientists here at the Medical College of Wisconsin (MCW) demonstrated the ability to apply whole exome sequencing (WES) to diagnose a pediatric patient with a rare digestive disease. WES enables the evaluation of the known protein coding DNA sequence of an individual. For the MCW patient, WES provided confirmation of an immune disorder* thereby warranting treatment with a cord blood transplant: a treatment that saved his life but would not have been undertaken without that confirmation.1 This groundbreaking story was prominently featured in a series of Pulitzer Prize-winning stories in the Milwaukee Journal Sentinel, scholarly publications, and a segment of the PBS television program Nova As predicted by Francis Collins,2 success of WES in cases like this has spurred interest in further application of this diagnostic tool. MCW has now expanded its program to include whole genome sequencing (WGS) and has since received requests from around the world to perform WGS.

机译：2009年，威斯康星州医学院（MCW）的科学家们展示了应用全外显子组测序（WES）诊断患有罕见消化系统疾病的小儿患者的能力。 WES可以评估个体的已知蛋白质编码DNA序列。对于MCW患者，WES提供了一种免疫系统疾病的确认*，因此值得进行脐带血移植治疗：挽救了他的性命，但没有得到确认就无法进行治疗。1这一突破性的故事在普利策系列中很突出密尔沃基期刊前哨，学术出版物和PBS电视节目Nova中的获奖故事正如弗朗西斯·柯林斯（Francis Collins）预测的那样，2在这种情况下WES的成功激发了人们对该诊断工具的进一步应用的兴趣。 MCW现在将其程序扩展到包括全基因组测序（WGS），并且此后收到了来自世界各地执行WGS的请求。

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《Pediatrics: Official Publication of the American Academy of Pediatrics》 |2013年第2期|共3页
作者
MayT.; ZusevicsK.L.; StrongK.A.;
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正文语种 eng
中图分类儿科学;
关键词
Ethics; Genetic testing;

机译：伦理学;基因测试;

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专利

1. On the ethics of clinical whole genome sequencing of children [J] . MayT., ZusevicsK.L., StrongK.A. Pediatrics: Official Publication of the American Academy of Pediatrics . 2013,第2期

机译：儿童临床全基因组测序的伦理学
2. Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU* [J] . Sanford Erica F., Clark Michelle M., Farnaes Lauge, Pediatric critical care medicine: a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies . 2019,第11期

机译：迅速全基因组测序在PICU中的儿童中具有临床效用*
3. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases [J] . Michelle M. Clark, Zornitza Stark, Lauge Farnaes, NPJ genomic medicine. . 2018,第1期

机译：疑似遗传病儿童基因组，外显子组测序和染色体微阵列诊断和临床应用的荟萃分析
4. Detection and Whole Genome Sequencing of Human Rhinoviruses from Hospitalized Children at High Risk for Severe Disease [C] . David E. Tabor, Lisa Aschenbrenner, Bob McLaughlin, International Molecular Medicine Tri-Conference. . 2015

机译：高危疾病高危儿童人鼻病毒的检测和全基因组测序
5. Bioinformatics: Using Computational Techniques (Whole Genome & Rna-Sequencing) to Understand Bacterial Genome Evolution and Biopharmaceutical Development =Bioinformatics: Using Computational Techniques (Whole Genome & RNA-Sequencing) to Understand Bac [D] . Duncan, David Jonith. 2020

机译：生物信息学：使用计算技术（全基因组和RNA测序）了解细菌基因组进化和生物制药发育=生物信息学：使用计算技术（全基因组＆amp; RNA测序）来理解BAC
6. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases [O] . Michelle M. Clark, Zornitza Stark, Lauge Farnaes, 2018

机译：疑似遗传病患儿基因组外显子组测序和染色体微阵列的诊断和临床应用的荟萃分析
7. A meta-analysis of the diagnostic sensitivity and clinical utility of genome sequencing, exome sequencing and chromosomal microarray in children with suspected genetic diseases [O] . Michelle M. Clark, Zornitza Stark, Lauge Farnaes, 2018

机译：涉嫌遗传疾病儿童基因组测序，外壳测序和染色体微阵列的诊断敏感性和临床效用的荟萃分析
8. Mapping and sequencing the human genome: Science, ethics, and public policy. Final report [R] . McInerney, J. D. 1993

机译：人类基因组的定位和测序：科学，伦理和公共政策。总结报告

On the ethics of clinical whole genome sequencing of children

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