Care in Specialized Centers and Data Sharing Increase Agreement in Hypertrophic Cardiomyopathy Genetic Test Interpretation
Care in Specialized Centers and Data Sharing Increase Agreement in Hypertrophic Cardiomyopathy Genetic Test Interpretation
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DOI：
10.1161/circgenetics.116.001700
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发表时间：
2017-10-01
影响因子：
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通讯作者：
Caleshu, Colleen
中科院分区：
文献类型：
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作者：
Furqan, Aisha;Arscott, Patricia;Caleshu, Colleen
背景：实验室和临床医生之间对基因检测结果的解释存在临床影响的差异。为了改进变异的分类，需要更好地理解为什么会出现差异以及如何减少差异。方法和结果——我们检查了肉节人类心肌病登记处 (SHARe) 中不一致变异分类的频率、原因和解决方案，该登记处是一个由在肥厚型心肌病临床管理和遗传结构方面拥有专业知识的国际中心组成的联盟。在 > 1 个中心的患者中存在的 112 种变异中，23 种变异在中心之间的分类不一致（20.5%；Fleiss kappa，0.54）。 ClinVar（变异分类公共档案）中临床实验室的不一致频率是其两倍多（315/695 变异；45.2%；Fleiss kappa，0.30；P
Background-Clinically impactful differences in the interpretation of genetic test results occur between laboratories and clinicians. To improve the classification of variants, a better understanding of why discrepancies occur and how they can be reduced is needed. Methods and Results-We examined the frequency, causes, and resolution of discordant variant classifications in the Sarcomeric Human Cardiomyopathy Registry (SHaRe), a consortium of international centers with expertise in the clinical management and genetic architecture of hypertrophic cardiomyopathy. Of the 112 variants present in patients at >1 center, 23 had discordant classifications among centers (20.5%; Fleiss kappa, 0.54). Discordance was more than twice as frequent among clinical laboratories in ClinVar, a public archive of variant classifications (315/695 variants; 45.2%; Fleiss kappa, 0.30; P