Cancer Risk Assessment Using Genetic Panel Testing: Considerations for Clinical Application
Cancer Risk Assessment Using Genetic Panel Testing: Considerations for Clinical Application
复制标题
DOI：
10.1007/s10897-014-9695-6
复制
发表时间：
2014-08-01
影响因子：
1.9
通讯作者：
Ostrer, Harry
中科院分区：
文献类型：
--
作者：
Hiraki, Susan;Rinella, Erica S.;Ostrer, Harry
随着人类基因组计划的完成和高通量技术的发展，如下一代测序，多重基因检测的使用正在迅速增长，其中多个基因同时测序以测试一种或多种条件。反映了潜在的异质性，其中广泛的基因赋予一种或多种癌症的风险，遗传癌症小组的发展，以评估这些风险只是多重检测在临床上应用的一个例子。在进行癌症风险评估的基因检测时，有许多问题和挑战需要考虑，当从传统的单基因方法转向面板检测时，这些问题变得更加复杂。在这里，我们讨论了乳腺癌，卵巢癌和结肠癌的面板测试的临床应用的实际考虑，包括好处，局限性和挑战，遗传咨询问题和管理指南。
With the completion of the Human Genome Project and the development of high throughput technologies, such as next-generation sequencing, the use of multiplex genetic testing, in which multiple genes are sequenced simultaneously to test for one or more conditions, is growing rapidly. Reflecting underlying heterogeneity where a broad range of genes confer risks for one or more cancers, the development of genetic cancer panels to assess these risks represents just one example of how multiplex testing is being applied clinically. There are a number of issues and challenges to consider when conducting genetic testing for cancer risk assessment, and these issues become exceedingly more complex when moving from the traditional single-gene approach to panel testing. Here, we address the practical considerations for clinical use of panel testing for breast, ovarian, and colon cancers, including the benefits, limitations and challenges, genetic counseling issues, and management guidelines.