Krier Joel B, Green Robert C
Genomes2People Research Program, Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.
Broad Institute, Boston, Massachusetts.
Curr Protoc Hum Genet. 2015 Oct 6;87:9.23.1-9.23.16. doi: 10.1002/0471142905.hg0923s87.
Genomic sequencing is becoming accurate, fast, and increasingly inexpensive, and is rapidly being incorporated into clinical practice. Incidental or secondary findings, which can occur in large numbers from genomic sequencing, are a potential barrier to the utility of this new technology due to their relatively 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.
基因组测序正变得准确、快速且成本越来越低，并迅速被纳入临床实践。基因组测序可能会产生大量的偶然或次要发现，由于其相对较高的发生率以及缺乏指导其临床解读的证据或指南，这些发现成为这项新技术应用的潜在障碍。本单元回顾了基因组测序偶然发现的定义、分类和管理。本单元重点关注处理偶然发现的临床方面，强调临床背景在定义偶然发现以及确定其临床相关性和实用性方面的关键作用。
