Department of Otorhinolaryngology, Union Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China.
BGI Genomics, BGI-Shenzhen, Shenzhen, 518083, China.
BMC Med Genomics. 2019 May 28;12(1):76. doi: 10.1186/s12920-019-0531-6.
Congenital hearing loss affects approximately 1-2 infants out of every 1000, with 50% of the cases resulting from genetic factors. Targeted gene panels have been widely used for genetic diagnosis of hearing loss. This study aims to reveal new diagnoses via reanalyzing historical data of a multigene panel, and exam the reasons for new diagnoses.
A total of 210 samples were enlisted, including clinical reports and sequencing data of patients with congenital/prelingual hearing loss who were referred to clinical genetic testing from October 2014 to June 2017. All variants listed on the original clinical reports were reinterpreted according to the standards and guidelines recommended by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP). Expanded analysis of raw data were performed in undiagnosed cases.
Re-analysis resulted in nine new diagnoses, improving the overall diagnostic rate from 39 to 43%. New diagnoses were attributed to newly published clinical evidence in the literature, adoption of new interpretation guidelines and expanded analysis range.
This work demonstrates benefits of reanalysis of targeted gene panel data, indicating that periodical reanalysis should be performed in clinical practice.
先天性听力损失影响每 1000 名婴儿中的 1-2 名，其中 50%的病例由遗传因素引起。靶向基因面板已广泛用于听力损失的基因诊断。本研究旨在通过重新分析多基因面板的历史数据揭示新的诊断，并检查新诊断的原因。
共纳入 210 例样本，包括 2014 年 10 月至 2017 年 6 月因先天性/语前听力损失而转诊至临床遗传检测的患者的临床报告和测序数据。根据美国医学遗传学与基因组学学院和分子病理学协会（ACMG/AMP）推荐的标准和指南，重新解释了原始临床报告中列出的所有变体。对未确诊病例进行了原始数据的扩展分析。
重新分析导致了 9 个新的诊断，将总体诊断率从 39%提高到 43%。新诊断归因于文献中新发表的临床证据、采用新的解释指南和扩展的分析范围。
这项工作证明了重新分析靶向基因面板数据的益处，表明在临床实践中应定期进行重新分析。
