Background. Next-generation sequencing (NGS) describes new powerful techniques of nucleic acid analysis, which allow not only disease gene identification diagnostics but also applications for transcriptome/methylation analysis and meta-genomics. NGS helps identify many monogenic epilepsy syndromes. Pediatric epilepsy patients can be tested using NGS epilepsy panels to diagnose them, thereby influencing treatment choices. The primary objective of this study was to evaluate the impact of genetic testing on clinical decision making in pediatric epilepsy patients. Methods. We completed a single-center retrospective cohort study of 91 patients (43 male) aged 19 years or less undergoing NGS with epilepsy panels differing in size ranging from 5 to 434 genes from October 2013 to September 2017. Results. During a mean time of 3.6 years between symptom onset and genetic testing, subjects most frequently showed epileptic encephalopathy (40%), focal epilepsy (33%), and generalized epilepsy (18%). In 16 patients (18% of the study population), “pathogenic” or “likely pathogenic” results according to ACMG criteria were found. Ten of the 16 patients (63%) experienced changes in clinical management regarding their medication and avoidance of further diagnostic evaluation, that is, presurgical evaluation. Conclusion. NGS epilepsy panels contribute to the diagnosis of pediatric epilepsy patients and may change their clinical management with regard to both preventing unnecessary and potentially harmful diagnostic procedures and management. Thus, the present data support the early implementation in order to adopt clinical management in selected cases and prevent further invasive investigations. Given the relatively small sample size and heterogeneous panels a larger prospective study with more homogeneous panels would be helpful to further determine the impact of NGS on clinical decision making.

中文翻译：

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三级癫痫转诊中心小儿癫痫下一代测序对临床决策的影响

背景。下一代测序 (NGS) 描述了新的强大的核酸分析技术，它不仅可以用于疾病基因识别诊断，还可以应用于转录组/甲基化分析和宏基因组学。NGS 有助于识别许多单基因癫痫综合征。小儿癫痫患者可以使用 NGS 癫痫小组进行测试以诊断他们，从而影响治疗选择。本研究的主要目的是评估基因检测对小儿癫痫患者临床决策的影响。方法。2013 年 10 月至 2017 年 9 月，我们完成了一项单中心回顾性队列研究，其中 91 名年龄在 19 岁或以下的患者（43 名男性）接受了 NGS，其中癫痫组的大小从 5 到 434 个基因不等。结果。平均时间为 3。在症状出现和基因检测之间的 6 年中，受试者最常出现癫痫性脑病 (40%)、局灶性癫痫 (33%) 和全身性癫痫 (18%)。根据 ACMG 标准，在 16 名患者（占研究人群的 18%）中发现了“致病性”或“可能致病性”结果。16 名患者中有 10 名 (63%) 在用药方面的临床管理发生了变化，并避免了进一步的诊断评估，即术前评估。结论。NGS 癫痫小组有助于儿童癫痫患者的诊断，并可能改变他们的临床管理，以防止不必要和潜在有害的诊断程序和管理。因此，目前的数据支持尽早实施，以便在选定的病例中采用临床管理并防止进一步的侵入性调查。鉴于相对较小的样本量和异质面板，具有更多同质面板的更大前瞻性研究将有助于进一步确定 NGS 对临床决策的影响。