Peng Rongxue, Li Jinming
National Center for Clinical Laboratories, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing Hospital/National Center of Gerontology, No. 1 Da Hua Road, Dongdan, Beijing, 100730, P R China.
Beijing Engineering Research Center of Laboratory Medicine, Beijing Hospital, Beijing, P R China.
Virchows Arch. 2025 Jun 25. doi: 10.1007/s00428-025-04156-9.
Since large efforts have been done in recent years to promote the standardization of next-generation sequencing (NGS)-based circulating tumor DNA (ctDNA) analysis, the current status of its laboratory practices in clinical settings has become a topic worthy of inquiry. To address this, we conducted a comprehensive survey on the clinical laboratory practices of NGS-based ctDNA analysis. Between May and June 2024, an online questionnaire consisting of 62 questions was distributed to laboratories that had previously participated in the proficiency testing schemes for NGS-based ctDNA analysis in China. Information on the laboratory characteristics, detailed analytical workflows, and quality assurance measures were collected. Out of 137 initial responses, 106 laboratories (77.4%) reported performing NGS-based ctDNA analysis for clinical purposes. While there was considerable variability in methodologies and workflows among these laboratories, 96.2% (102/106) of laboratories adhered to standardized pre-analytical workflows and more than 84.9% (90/106) implemented diverse quality assurance approaches to maintain testing quality. Nevertheless, critical gaps in laboratory practices were still identified, including a lack of specific criteria for sample collection timing and sample rejection, inadequate filtration measures, absence of orthogonal confirmations, incomplete validation plans, insufficient quality control metrics, and infrequent internal quality control assessments. The data revealed both strengths and critical gaps in the currently clinical laboratory practices of NGS-based ctDNA analysis in China. Albeit former efforts, future care must still be taken in establishing standardized workflows, implementing robust validation, and enforcing robust quality control measures.
近年来，为推动基于下一代测序（NGS）的循环肿瘤DNA（ctDNA）分析的标准化已付出巨大努力，其在临床环境中的实验室实践现状已成为一个值得探究的话题。为解决这一问题，我们对基于NGS的ctDNA分析的临床实验室实践进行了全面调查。在2024年5月至6月期间，一份包含62个问题的在线问卷被分发给此前参加过中国基于NGS的ctDNA分析能力验证计划的实验室。收集了有关实验室特征、详细分析工作流程和质量保证措施的信息。在137份初始回复中，106家实验室（77.4%）报告开展了基于NGS的ctDNA临床分析。虽然这些实验室在方法和工作流程上存在很大差异，但96.2%（102/106）的实验室遵循标准化的分析前工作流程，超过84.9%（90/106）的实验室采用了多种质量保证方法来维持检测质量。然而，仍发现实验室实践中存在关键差距，包括缺乏样本采集时间和样本拒收的具体标准、过滤措施不足、缺乏正交确认、验证计划不完整、质量控制指标不足以及内部质量控制评估不频繁。数据揭示了中国目前基于NGS的ctDNA分析临床实验室实践中的优势和关键差距。尽管此前已做出努力，但在建立标准化工作流程、实施有力验证和加强质量控制措施方面仍需未来加以关注。
