What's in a Name? A Coordinated Approach toward the Correct Use of a Uniform Nomenclature to Improve Patient Reports and Databases
What's in a Name? A Coordinated Approach toward the Correct Use of a Uniform Nomenclature to Improve Patient Reports and Databases
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DOI：
10.1002/humu.22975
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发表时间：
2016-06-01
期刊：
影响因子：
3.9
通讯作者：
Dequeker, Elisabeth M. C.
中科院分区：
文献类型：
--
作者：
Tack, Veronique;Deans, Zandra C.;Dequeker, Elisabeth M. C.
人类基因组变异学会（HGVS）的建议为报告变异提供了标准化的命名法。这在分子病理学中是值得鼓励的，无论是为了发布诊断报告还是为了在电子数据库中正确记录数据。许多外部质量评估（EQA）的提供者通过对EQA报告中使用的变体描述进行评分来促进HGVS命名的正确使用。本研究的重点是变异命名错误的类型和影响。由四家EQA提供商（欧洲病理学会[ESP]、欧洲分子遗传学质量网络[EMQN]、英国国家分子遗传学外部质量评估服务和法国国家Gen&Tiss EQA计划）对两种EQA分布进行EGFR基因变体命名评估。肿瘤生物标志物的实验室检测在描述EGFR基因变异时会出现不同的错误。在正确参考序列的纳入方面观察到显著差异：与ESP EQA参与者相比，EMQN参与者的错误较少（P值= 0.015）。对ESP EQA参与者的分析显示，2年内有显著改善（P值= 0.016）。结果表明，需要根据HGVS指南改进变异报告。目前，许多实验室认为使用不正确的突变命名法的后果很低，但随着对数据库的依赖增加，其影响将增加，以协助结果分析。
The Human Genome Variation Society (HGVS) recommendations provide standardized nomenclature for reporting variants. This should be encouraged in molecular pathologyboth for issuing diagnostic reports and for correct data recording in electronic databases. Many providers of external quality assessment (EQA) promote the correct use of HGVS nomenclature by scoring variant descriptions used in EQA reports. This study focuses on the type and impact of variant nomenclature errors. An assessment was made of EGFR gene variant nomenclature by four EQA providers (European Society of Pathology [ESP], European Molecular Genetics Quality Network [EMQN], United Kingdom National External Quality Assessment Service for Molecular Genetics, and the French national Gen&Tiss EQA scheme) for two EQA distributions. Laboratories testing for oncology biomarkers make different errors when describing EGFR gene variants. Significant differences were observed regarding inclusion of the correct reference sequence: EMQN participants made fewer errors compared to ESP EQA participants (P-value = 0.015). The analysis of ESP EQA participants showed significant improvement over 2 years (P-value = 0.016). Results demonstrate the need for improvement of variant reporting according to HGVS guidelines. Consequences of using incorrect mutation nomenclature are currently perceived as low by many laboratories, but the impact will rise with an increased reliance on databases to assist in result analysis.