[Chinese expert consensus on the analytical validation of tumor comprehensive genomic profiling next generation sequencing testing (2024 edition)].

In hospital laboratories-developed testing is of great significance for the clinical testing products that has not been approved by the National Medical Product Administration and is urgently needed to meet clinical practice needs. With the development of cancer precision medicine in recent years, comprehensive genomic profiling (CGP) has become an important means and method for the detection of drug targets, precise molecular typing, and immunotherapy biomarkers in cancer patients. However, there is still a lack of unified understanding and consensus on clinical testing standards and application specifications for laboratory-developed testing in the hospitals. The Molecular Pathology Collaboration Group of the Cancer Experts Committee of the Chinese Anti-Cancer Association and the Molecular Pathology Group of the Pathology Branch of the Chinese Medical Association initiated the expert consensus on relevant specifications for analytical validation of CGP next-generation sequencing (NGS) testing in Chinese hospitals. Combined with domestic clinical practice, refer to domestic and foreign literatures, from the background of the laboratory-developed testing, analytical validation scenarios, evaluation indicators and variation ranges, sample types and quantities covered by analytical validation, clinical performance and drug efficacy determination, and site personnel for analytical validation, quality control, inter-laboratory quality evaluation and document management, etc. After the discussion by the expert group, 12 expert consensuses were formed to provide reference for the analytical validation and clinical application of tumor CGP NGS testing in Chinese hospitals, so as to promote the laboratory-developed testing applications in Chinese hospitals.实验室自建检测对于医疗机构开展未经国家药品监督管理局审批且急需满足临床实践需求的检测具有重要意义。随着近年来肿瘤精准医学的发展，全景变异检测（CGP）已经成为肿瘤患者精准分子分型、靶向治疗、免疫治疗生物标志物等检测的重要手段和方法，但其在医疗机构开展自建检测的标准与应用规范尚缺乏统一的认识与共识。中国抗癌协会肿瘤病理专业委员会分子病理协作组联合中华医学会病理学分会分子病理学组发起了医疗机构开展CGP二代测序（NGS）检测性能确认相关规范中国专家共识，结合中国临床实践，参考国内外文献，从实验室自建的背景、性能确认的场景、评估指标与变异范围，性能确认覆盖的样本类型、数量、临床性能与药效判定，性能确认的场地、人员、质控、室间质评与文档管理等方面进行评述，经专家组讨论并形成12条专家共识，为中国医疗机构开展肿瘤CGP NGS检测的性能确认和临床应用提供参考，以促进医疗机构自建检测应用的发展。.