随着基因测序成本的降低和生物信息学数据分析的日趋完善，特别是结合目标区域捕获技术，高通量测序技术已逐步走向了临床应用，尤其是在孟德尔遗传病的致病基因检测中应用日趋广泛，很多单基因病已经可以进行基因诊断。从个体基因突变信息到临床基因诊断是一个综合的分析判断过程。本文从四个方面详细地讨论了影响基因检测结果临床解读的关键因素，包括基因检测的临床目标效益、基因检测的变异分析要点、基因检测结果与临床表征的综合判断及基因检测的伦理问题。希望能够对研究者或检测机构在遗传病致病基因结果解读的过程有所启发，推动国内基因检测报告的规范化和基因诊断事业的有序发展。

With the decreasing cost of DNA sequencing and the improvement of the bioinformatics tools, high-throughput sequencing combined with targeted-exon sequence capture technology has been widely applied in clinical diagnosis, especially for the Mendelian inheritable diseases. However, the utilization of gene mutation results in clinic genetic diagnosis is a comprehensive judgment. The article described four key factors affecting the clinical interpretation of the gene testing results, including the clinical utility, guideline of data analysis, the correlation between gene mutations and clinical manifestations, and the ethical issues of genetic testing.The article was expected to help the researchers and/or the institutions to make a better understanding of the application and interpretation of genetic testing results, and to make a step forward to standardize the genetic testing reports and the development of clinical genetic diagnosis.