The application of whole genome/exome sequencing technologies in clinical genetics and research has resulted in the discovery of incidental findings unrelated to the primary purpose of genetic testing. The American College of Medical Genetics and Genomics published guidelines for reporting pathogenic and likely pathogenic variants that are deemed to be medically actionable, which allowed us to learn about the epidemiology of incidental findings in different populations. However, consensus guidelines for variant reporting and classification are still lacking. We conducted a systematic literature review of incidental findings in whole genome/exome sequencing studies to obtain a comprehensive understanding of variable reporting and classification methods for variants that are deemed to be medically actionable across different populations. The review highlights the elements that demand further consideration or adjustment.

中文翻译：

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来自基因组和外显子组测序数据的医学上可行的偶然发现的频率和管理；系统评价

全基因组/外显子组测序技术在临床遗传学和研究中的应用导致发现与基因检测的主要目的无关的偶然发现。美国医学遗传学和基因组学学院发布了报告致病性和可能致病性变异的指南，这些变异被认为是医学上可行的，这使我们能够了解不同人群中偶然发现的流行病学。然而，仍然缺乏变异报告和分类的共识指南。我们对全基因组/外显子组测序研究中的偶然发现进行了系统的文献综述，以全面了解被认为在不同人群中具有医学可操作性的变体的变量报告和分类方法。