Interpretation of genetic testing: variants of unknown significance.
Interpretation of genetic testing: variants of unknown significance.
复制标题
DOI：
10.1212/01.con.0000396975.87637.86
复制
发表时间：
2011-04-01
期刊：
影响因子：
--
通讯作者：
Fogel, Brent L
中科院分区：
文献类型：
--
作者：
Fogel, Brent L
随着可用于商业测序的基因数量的增加和临床全基因组测序的前景成为现实，对这些测试结果的解释对执业神经科医生来说变得更具挑战性，因为这些研究有可能检测到新的遗传变异。这样的报告在一般实践中变得越来越频繁，神经学家经常对这些“未知意义的变异”的相关性感到困惑，因为这些基因变化经常被描述，以及如何将这些信息传达给患者及其家属。本文将简要说明临床医生如何在患者护理中使用这些结果。仅考虑涉及编码序列的遗传变异，尽管类似的方法也可以应用于诸如非编码改变或拷贝数变化等变化。同样重要的是要注意，在某些情况下，特别是那些只涉及测序选择外显子的测试，阴性测试结果也可能需要特殊解释。
As the number of genes available for commercial sequencing increases and the promise of clinical whole-genome sequencing becomes a reality, the interpretation of the results of these tests becomes more challenging for the practicing neurologist as these studies have the potential to detect novel genetic variants. Such reports are becoming more frequent in general practice, and neurologists are often left to puzzle over the relevance of these "variants of unknown significance," as such genetic changes are often described, and how to communicate this information to the patients and their families. This article will briefly illustrate how clinicians can use such results in the care of their patients. Only genetic variants involving coding sequence will be considered, although similar methods may also be applied to changes such as noncoding alterations or copy number variations. It is also important to note that in some cases, particularly those involving tests that only sequence select exons, negative test results may also require special interpretation.