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False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care

机译:直接面向消费者的基因测试所发布的假阳性结果凸显了临床确认测试对适当患者护理的重要性

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摘要

PurposeThere is increasing demand from the public for direct-to-consumer (DTC) genetic tests, and the US Food and Drug Administration limits the type of health-related claims DTC tests can market. Some DTC companies provide raw genotyping data to customers if requested, and these raw data may include variants occurring in genes recommended by the American College of Medical Genetics and Genomics to be reported as incidental/secondary findings. The purpose of this study was to review the outcome of requests for clinical confirmation of DTC results that were received by our laboratory and to analyze variant classification concordance.
机译:目的公众对直接面向消费者(DTC)的基因检测的需求日益增长,美国食品药品监督管理局(DFDA)限制了DTC检测可以推销的与健康相关的声明的类型。一些DTC公司根据要求向客户提供原始基因分型数据,这些原始数据可能包括美国医学遗传学和基因组学学院推荐的基因中发生的变体,作为偶然/次要发现进行报告。这项研究的目的是审查由我们实验室收到的DTC结果临床确认请求的结果,并分析变异分类的一致性。

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