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本文引用的文献

1
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.临床测序探索性研究联盟：加速基于证据的基因组医学实践。
Am J Hum Genet. 2016 Jun 2;98(6):1051-1066. doi: 10.1016/j.ajhg.2016.04.011. Epub 2016 May 12.
2
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.对全外显子组测序作为疑似单基因疾病婴儿的一线分子检测的前瞻性评估。
Genet Med. 2016 Nov;18(11):1090-1096. doi: 10.1038/gim.2016.1. Epub 2016 Mar 3.
3
Genetics of Phenylketonuria: Then and Now.苯丙酮尿症的遗传学：过去与现在
Hum Mutat. 2016 Jun;37(6):508-15. doi: 10.1002/humu.22980. Epub 2016 Mar 18.
4
Whole-Genome Screening of Newborns? The Constitutional Boundaries of State Newborn Screening Programs.新生儿全基因组筛查？国家新生儿筛查项目的宪法界限。
Pediatrics. 2016 Jan;137 Suppl 1(Suppl 1):S8-15. doi: 10.1542/peds.2015-3731D.
5
Parental Views on Expanded Newborn Screening Using Whole-Genome Sequencing.父母对使用全基因组测序进行扩大新生儿筛查的看法。
Pediatrics. 2016 Jan;137 Suppl 1(Suppl 1):S36-46. doi: 10.1542/peds.2015-3731H.
6
Psychosocial Factors Influencing Parental Interest in Genomic Sequencing of Newborns.影响父母对新生儿基因组测序兴趣的社会心理因素。
Pediatrics. 2016 Jan;137 Suppl 1(Suppl 1):S30-5. doi: 10.1542/peds.2015-3731G.
7
The Challenge of Analyzing the Results of Next-Generation Sequencing in Children.分析儿童下一代测序结果面临的挑战
Pediatrics. 2016 Jan;137 Suppl 1:S3-7. doi: 10.1542/peds.2015-3731C.
8
Potential Psychosocial Risks of Sequencing Newborns.新生儿测序的潜在社会心理风险。
Pediatrics. 2016 Jan;137 Suppl 1(Suppl 1):S24-9. doi: 10.1542/peds.2015-3731F.
9
Supporting Parental Decisions About Genomic Sequencing for Newborn Screening: The NC NEXUS Decision Aid.支持父母关于新生儿筛查基因组测序的决策：北卡罗来纳州NEXUS决策辅助工具。
Pediatrics. 2016 Jan;137 Suppl 1(Suppl 1):S16-23. doi: 10.1542/peds.2015-3731E.
10
Incidental Findings with Genomic Testing: Implications for Genetic Counseling Practice.基因检测的偶然发现：对遗传咨询实践的影响
Curr Genet Med Rep. 2015;3(4):166-176. doi: 10.1007/s40142-015-0075-9. Epub 2015 Aug 25.

基因组医学与公共卫生中的新生儿测序

Newborn Sequencing in Genomic Medicine and Public Health.

作者信息

Berg Jonathan S, Agrawal Pankaj B, Bailey Donald B, Beggs Alan H, Brenner Steven E, Brower Amy M, Cakici Julie A, Ceyhan-Birsoy Ozge, Chan Kee, Chen Flavia, Currier Robert J, Dukhovny Dmitry, Green Robert C, Harris-Wai Julie, Holm Ingrid A, Iglesias Brenda, Joseph Galen, Kingsmore Stephen F, Koenig Barbara A, Kwok Pui-Yan, Lantos John, Leeder Steven J, Lewis Megan A, McGuire Amy L, Milko Laura V, Mooney Sean D, Parad Richard B, Pereira Stacey, Petrikin Joshua, Powell Bradford C, Powell Cynthia M, Puck Jennifer M, Rehm Heidi L, Risch Neil, Roche Myra, Shieh Joseph T, Veeraraghavan Narayanan, Watson Michael S, Willig Laurel, Yu Timothy W, Urv Tiina, Wise Anastasia L

机构信息

Departments of Genetics and

Divisions of Newborn Medicine and.

出版信息

Pediatrics. 2017 Feb;139(2). doi: 10.1542/peds.2016-2252. Epub 2017 Jan 17.

DOI:10.1542/peds.2016-2252
PMID:28096516
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5260149/
Abstract

The rapid development of genomic sequencing technologies has decreased the cost of genetic analysis to the extent that it seems plausible that genome-scale sequencing could have widespread availability in pediatric care. Genomic sequencing provides a powerful diagnostic modality for patients who manifest symptoms of monogenic disease and an opportunity to detect health conditions before their development. However, many technical, clinical, ethical, and societal challenges should be addressed before such technology is widely deployed in pediatric practice. This article provides an overview of the Newborn Sequencing in Genomic Medicine and Public Health Consortium, which is investigating the application of genome-scale sequencing in newborns for both diagnosis and screening.

摘要

基因组测序技术的迅速发展已将基因分析成本降低到一定程度，以至于基因组规模测序在儿科护理中广泛应用似乎是可行的。对于表现出单基因疾病症状的患者，基因组测序提供了一种强大的诊断方式，也为在健康状况发展之前进行检测提供了机会。然而，在这种技术广泛应用于儿科实践之前，许多技术、临床、伦理和社会挑战都需要得到解决。本文概述了基因组医学与公共卫生联盟中的新生儿测序项目，该项目正在研究基因组规模测序在新生儿诊断和筛查中的应用。