Department of Medical Laser, Dankook University, Chungnam 31116, Korea.
Department of Laboratory Medicine, Severance Hospital, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, Korea.
Medicina (Kaunas). 2021 May 28;57(6):543. doi: 10.3390/medicina57060543.
Next-generation sequencing (NGS) has played an important role in detecting genetic variants with pathologic and therapeutic potential. The advantages of NGS, such as high-throughput sequencing capacity and massively parallel sequencing, have a significant impact on realization of genetic profiling in clinical genetic laboratories. These changes have enabled clinicians to execute precision medicine in diagnosis, prognosis, and treatment for patients. However, to adapt targeted gene panels in diagnostic use, analytical validation and ongoing quality control should be implemented and applied with both practical guidelines and appropriate control materials. Several guidelines for NGS quality control recommend usage of control materials such as HapMap cell lines, synthetic DNA fragments, and genetically characterized cell lines; however, specifications or applications of such usage are insufficient to guideline method development. This review focuses on what factors should be considered before control material selection for NGS assay and practical methods of how they could be developed in clinical genetic laboratories. This review also provides the detailed sources of critical information related to control materials.
下一代测序（NGS）在检测具有病理和治疗潜力的遗传变异方面发挥了重要作用。NGS 的优势，如高通量测序能力和大规模平行测序，对临床遗传实验室实现基因谱分析有重大影响。这些变化使临床医生能够在诊断、预后和治疗患者方面实施精准医学。然而，要使靶向基因检测 panel 适应诊断应用，应实施和应用分析验证和持续的质量控制，并结合实用指南和适当的对照材料。一些 NGS 质量控制指南建议使用对照材料，如 HapMap 细胞系、合成 DNA 片段和遗传特征明确的细胞系；然而，这些使用的规范或应用不足以指导方法开发。这篇综述重点关注在选择 NGS 检测对照材料之前应考虑哪些因素，以及如何在临床遗传实验室中开发这些方法的实用方法。这篇综述还提供了与对照材料相关的关键信息的详细来源。
