The known unknown: the challenges of genetic variants of uncertain significance in clinical practice
The known unknown: the challenges of genetic variants of uncertain significance in clinical practice
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DOI：
10.1093/jlb/lsx038
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发表时间：
2017-12-01
影响因子：
3.4
通讯作者：
Hoffman-Andrews, Lily
中科院分区：
文献类型：
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作者：
Hoffman-Andrews, Lily
随着基因检测技术的进步，科学家们可以从我们的DNA中获得大部分原始数据，他们解释这些数据的能力一直在努力跟上。其结果是不确定意义的变体（VUS）的普遍存在：来自基因检测的结果，其临床意义目前尚未解决。当这些结果被发现时该怎么办是一个困扰实验室、临床医生和患者的问题。在本文中，我专注于VUS在临床实践中提出的问题，并提出了前进的道路。
As genetic testing technology has advanced, allowing scientists to obtain much of the raw data from our DNA, their ability to interpret these data has struggled to keep up. The result is the ubiquity of variants of uncertain significance (VUSs): findings from genetic testing for which the clinical significance is currently unresolved. What to do when these results are found is a problem that has vexed laboratories, clinicians, and patients alike. In this paper, I focus on the issues raised by VUSs in clinical practice, and suggest paths forward.