{"title":"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。","authors":"Rongxue Peng, Jinming Li","doi":"10.1007/s00428-025-04156-9","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4000,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Laboratory practices for next-generation sequencing-based circulating tumor DNA analysis: insights from a comprehensive survey in China.\",\"authors\":\"Rongxue Peng, Jinming Li\",\"doi\":\"10.1007/s00428-025-04156-9\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":23514,\"journal\":{\"name\":\"Virchows Archiv\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":3.4000,\"publicationDate\":\"2025-06-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Virchows Archiv\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s00428-025-04156-9\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Virchows Archiv","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s00428-025-04156-9","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PATHOLOGY","Score":null,"Total":0}
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.
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.