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全基因组和全外显子组测序在遗传性癌症中的应用:对遗传检测和咨询的影响。

Whole-genome and whole-exome sequencing in hereditary cancer: impact on genetic testing and counseling.

机构信息

Illumina, Inc, San Diego, CA 92122, USA.

出版信息

Cancer J. 2012 Jul-Aug;18(4):287-92. doi: 10.1097/PPO.0b013e318262467e.

Abstract

The incorporation of whole-genome and whole-exome sequencing into clinical practice will undoubtedly change the way genetic counselors and other clinicians approach genetic testing. Enabling the analysis of essentially all human genes in one comprehensive test, this new technology can result in reduced testing cost and time to diagnosis. Another consequence of this broad scope, however, is the increased amount, complexity, and variety of results a clinician may need to discuss with a patient. The purpose of this article is to review the technology and outline some of the benefits and challenges of whole-genome and whole-exome sequencing in hereditary cancer practice.

摘要

将全基因组和外显子组测序纳入临床实践无疑将改变遗传咨询师和其他临床医生进行基因检测的方式。这项新技术可以在一次综合测试中分析几乎所有人类基因,从而降低检测成本和诊断时间。然而,这种广泛的范围的另一个后果是,临床医生可能需要与患者讨论的结果数量、复杂性和种类增加。本文的目的是回顾这项技术,并概述全基因组和外显子组测序在遗传性癌症实践中的一些益处和挑战。

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