Management of incidental findings in clinical genomic sequencing.
Management of incidental findings in clinical genomic sequencing.
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DOI：
10.1002/0471142905.hg0923s77
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发表时间：
2013-01-01
影响因子：
--
通讯作者：
Green, Robert C
中科院分区：
文献类型：
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作者：
Krier, Joel B;Green, Robert C
基因组测序正变得准确、快速和廉价，并迅速纳入临床实践。偶然的发现，导致大量的基因组测序，是一个潜在的障碍，这种新技术的实用性，由于其高患病率和缺乏证据或指南可用于指导其临床解释。本单元回顾了基因组测序中偶然发现的定义、分类和管理。该单位侧重于处理偶然发现的临床方面，强调临床背景在定义偶然发现和确定其临床相关性和实用性方面的关键作用。
Genomic sequencing is becoming accurate, fast, and inexpensive, and is rapidly being incorporated into clinical practice. Incidental findings, which result in large numbers from genomic sequencing, are a potential barrier to the utility of this new technology due to their high prevalence and the lack of evidence or guidelines available to guide their clinical interpretation. This unit reviews the definition, classification, and management of incidental findings from genomic sequencing. The unit focuses on the clinical aspects of handling incidental findings, with an emphasis on the key role of clinical context in defining incidental findings and determining their clinical relevance and utility.