Incidental Findings with Genomic Testing: Implications for Genetic Counseling Practice.
Incidental Findings with Genomic Testing: Implications for Genetic Counseling Practice.
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DOI：
10.1007/s40142-015-0075-9
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发表时间：
2015
影响因子：
2.1
通讯作者：
Berg JS
中科院分区：
文献类型：
--
作者：
Roche MI;Berg JS
本文总结了目前围绕识别和披露来自基因组测序的“偶然”或“次要”发现及其对遗传咨询实践的影响的争议。临床测序的快速扩展影响了偶然发现的确定和返回，同时仍在产生为最佳实践提供信息的经验数据。以北卡罗来纳州临床基因组下一代外显子组测序(NCGENES)研究项目为例，我们讨论了不同同意模式的含义及其对患者决策的影响。
This paper summarizes the current controversies surrounding the identification and disclosure of “incidental” or “secondary” findings from genomic sequencing and the implications for genetic counseling practice. The rapid expansion of clinical sequencing has influenced the ascertainment and return of incidental findings, while empiric data to inform best practices are still being generated. Using the North Carolina Clinical Genomic Evaluation by Next Generation Exome Sequencing (NCGENES) research project as an example, we discuss the implications of different models of consent and their impact on patient decisions.