Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine
Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine
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DOI：
10.1016/j.ajhg.2016.09.015
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发表时间：
2016-11-03
影响因子：
9.8
通讯作者：
Hegde, Madhuri
中科院分区：
文献类型：
--
作者：
Garber, Kathryn B.;Vincent, Lisa M.;Hegde, Madhuri
DNA序列变异的准确解释是实施个体化医疗的前提。检测实验室之间的解释不一致阻碍了基因检测结果在临床医学中的有效使用。为了更好地理解这些差异的基础，我们量化了随着时间的推移内部变异分类的差异以及我们的诊断实验室与其他实验室和资源之间的差异。我们评估了导致这些差异的因素以及有助于解决这些差异的因素。我们的过程解决了实验室对之间近300个差异中的72%，使其在一步分类差异内，并确定了促进变异解释变化的关键数据来源。变异差异的识别和协调将最大限度地扩大遗传信息的临床应用;这些进程将通过积累更多的人口数据以及诊断实验室之间的数据共享得到促进。
Accurate interpretation of DNA sequence variation is a prerequisite for implementing personalized medicine. Discrepancies in interpretation between testing laboratories impede the effective use of genetic test results in clinical medicine. To better understand the underpinnings of these discrepancies, we quantified differences in variant classification internally over time and those between our diagnostic laboratory and other laboratories and resources. We assessed the factors that contribute to these discrepancies and those that facilitate their resolution. Our process resolved 72% of nearly 300 discrepancies between pairs of laboratories to within a one-step classification difference and identified key sources of data that facilitate changes in variant interpretation. The identification and harmonization of variant discrepancies will maximize the clinical use of genetic information; these processes will be fostered by the accumulation of additional population data as well as the sharing of data between diagnostic laboratories.