临床诊断基因组测序相关的机遇与挑战：美国分子病理学会报告
Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology.
机构信息
Whole Genome Analysis Working Group, Association for Molecular Pathology Clinical Practice Committee, Bethesda, Maryland, USA.
出版信息
J Mol Diagn. 2012 Nov;14(6):525-40. doi: 10.1016/j.jmoldx.2012.04.006. Epub 2012 Aug 20.
Abstract
This report of the Whole Genome Analysis group of the Association for Molecular Pathology illuminates the opportunities and challenges associated with clinical diagnostic genome sequencing. With the reality of clinical application of next-generation sequencing, technical aspects of molecular testing can be accomplished at greater speed and with higher volume, while much information is obtained. Although this testing is a next logical step for molecular pathology laboratories, the potential impact on the diagnostic process and clinical correlations is extraordinary and clinical interpretation will be challenging. We review the rapidly evolving technologies; provide application examples; discuss aspects of clinical utility, ethics, and consent; and address the analytic, postanalytic, and professional implications.
摘要
本报告由分子病理学协会的全基因组分析小组撰写，阐明了临床诊断基因组测序所涉及的机遇和挑战。随着下一代测序技术的临床应用成为现实，分子检测的技术方面可以更快、更大规模地完成，同时获得更多信息。虽然这种检测是分子病理实验室的下一步合理选择，但它对诊断过程和临床相关性的潜在影响是巨大的，临床解释也将具有挑战性。我们回顾了快速发展的技术；提供了应用实例；讨论了临床实用性、伦理学和同意书的各个方面；并探讨了分析前、分析后和专业方面的影响。
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本文引用的文献
1
Next generation DNA sequencing and the future of genomic medicine.
Genes (Basel). 2010 May 25;1(1):38-69. doi: 10.3390/genes1010038.
2
Technical desiderata for the integration of genomic data into Electronic Health Records.
J Biomed Inform. 2012 Jun;45(3):419-22. doi: 10.1016/j.jbi.2011.12.005. Epub 2011 Dec 27.
3
Performance comparison of whole-genome sequencing platforms.
Nat Biotechnol. 2011 Dec 18;30(1):78-82. doi: 10.1038/nbt.2065.
4
Repetitive DNA and next-generation sequencing: computational challenges and solutions.
Nat Rev Genet. 2011 Nov 29;13(1):36-46. doi: 10.1038/nrg3117.
5
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study.
Genet Med. 2011 Nov;13(11):913-20. doi: 10.1097/GIM.0b013e3182368a0e.
6
Cancer drugs find a companion with new diagnostic tests.
Nat Med. 2011 Oct 11;17(10):1157. doi: 10.1038/nm1011-1157.
7
Phased whole-genome genetic risk in a family quartet using a major allele reference sequence.
PLoS Genet. 2011 Sep;7(9):e1002280. doi: 10.1371/journal.pgen.1002280. Epub 2011 Sep 15.
8
Whole cancer genome sequencing by next-generation methods.
Am J Clin Pathol. 2011 Oct;136(4):527-39. doi: 10.1309/AJCPR1SVT1VHUGXW.
9
An integrated semiconductor device enabling non-optical genome sequencing.
Nature. 2011 Jul 20;475(7356):348-52. doi: 10.1038/nature10242.
10
Integrated genomic analyses of ovarian carcinoma.
Nature. 2011 Jun 29;474(7353):609-15. doi: 10.1038/nature10166.
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