基于新一代测序的循环肿瘤DNA分析的实验室实践:来自中国一项综合调查的见解。

IF 3.4 3区 医学 Q1 PATHOLOGY
Rongxue Peng, Jinming Li
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引用次数: 0

摘要

近年来,人们在促进基于下一代测序(NGS)的循环肿瘤DNA (ctDNA)分析的标准化方面做了大量工作,因此其在临床环境中的实验室实践现状已成为一个值得探讨的话题。为了解决这个问题,我们对基于ngs的ctDNA分析的临床实验室实践进行了全面的调查。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了之前参与过中国基于ngs的ctDNA分析能力测试计划的实验室。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个初步应答中,106个实验室(77.4%)报告为临床目的进行了基于ngs的ctDNA分析。虽然这些实验室在方法和工作流程上存在相当大的差异,但96.2%(102/106)的实验室坚持标准化的分析前工作流程,超过84.9%(90/106)的实验室实施多样化的质量保证方法来维持测试质量。尽管如此,实验室实践中的关键差距仍然被确定,包括缺乏具体的样品采集时间和样品拒绝标准,过滤措施不充分,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。这些数据揭示了目前中国基于ngs的ctDNA分析的临床实验室实践的优势和关键差距。尽管以前的努力,将来仍然必须注意建立标准化的工作流程,实现健壮的验证,并执行健壮的质量控制措施。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Laboratory practices for next-generation sequencing-based circulating tumor DNA analysis: insights from a comprehensive survey in China.

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.

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来源期刊
Virchows Archiv
Virchows Archiv 医学-病理学
CiteScore
7.40
自引率
2.90%
发文量
204
审稿时长
4-8 weeks
期刊介绍: Manuscripts of original studies reinforcing the evidence base of modern diagnostic pathology, using immunocytochemical, molecular and ultrastructural techniques, will be welcomed. In addition, papers on critical evaluation of diagnostic criteria but also broadsheets and guidelines with a solid evidence base will be considered. Consideration will also be given to reports of work in other fields relevant to the understanding of human pathology as well as manuscripts on the application of new methods and techniques in pathology. Submission of purely experimental articles is discouraged but manuscripts on experimental work applicable to diagnostic pathology are welcomed. Biomarker studies are welcomed but need to abide by strict rules (e.g. REMARK) of adequate sample size and relevant marker choice. Single marker studies on limited patient series without validated application will as a rule not be considered. Case reports will only be considered when they provide substantial new information with an impact on understanding disease or diagnostic practice.
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