Coovadia Adam
Laboratory Operations Director, Genomic Scientist, EvolveGene, St. Petersburg, FL.
J Assoc Genet Technol. 2017;43(1):23-28.
Variant databases serve as a resource for clinical molecular genetics laboratories. There is evidence of widespread interpretive and syntactic errors within the entries of both small and large-scale variant databases used for germline clinical molecular genetic interpretation reports. The over-dependence on variant databases for variant annotation, classification and reporting may be a potential source of error to clinical molecular genetics laboratories. Recent evidence suggests 12-50% of clinical test reports are in significant conflict with clinical reports from other laboratories. A non-systematic literature review of evidence of discrepancies within frequently used genetic variant databases used for generating clinical genetic tests is provided. The implications of and recommendations for addressing variant annotation, classification and interpretive errors are discussed.
变异数据库是临床分子遗传学实验室的资源。有证据表明，用于生殖系临床分子遗传学解释报告的小型和大规模变异数据库条目中存在广泛的解释性和句法错误。临床分子遗传学实验室过度依赖变异数据库进行变异注释、分类和报告可能是潜在的错误来源。最近的证据表明，12%至50%的临床检测报告与其他实验室的临床报告存在重大冲突。本文对用于生成临床基因检测的常用基因变异数据库中的差异证据进行了非系统性文献综述。讨论了处理变异注释、分类和解释错误的影响及建议。
