Hernandez Kyle M, Bramlett Kelli S, Agius Phaedra, Baden Jonathan, Cao Ru, Clement Omoshile, Corner Adam S, Craft Jonathan, Dean Dennis A, Dry Jonathan R, Grigaityte Kristina, Grossman Robert L, Hicks James, Higa Nikki, Holzer Timothy R, Jensen Jeffrey, Johann Donald J, Katz Sigrid, Kolatkar Anand, Keynton Jennifer L, Lee Jerry S H, Maar Dianna, Martini Jean-Francois, Meyer Christopher G, Roberts Peter C, Ryder Matt, Salvatore Lea, Schageman Jeoffrey J, Somiari Stella, Stetson Daniel, Stern Mark, Xu Liya, Leiman Lauren C
Department of Medicine, University of Chicago, Chicago, Illinois; Center for Translational Data Science, University of Chicago, Chicago, Illinois.
Thermo Fisher Scientific, Austin, Texas.
J Mol Diagn. 2023 Mar;25(3):143-155. doi: 10.1016/j.jmoldx.2022.12.003.
The Blood Profiling Atlas in Cancer (BLOODPAC) Consortium is a collaborative effort involving stakeholders from the public, industry, academia, and regulatory agencies focused on developing shared best practices on liquid biopsy. This report describes the results from the JFDI (Just Freaking Do It) study, a BLOODPAC initiative to develop standards on the use of contrived materials mimicking cell-free circulating tumor DNA, to comparatively evaluate clinical laboratory testing procedures. Nine independent laboratories tested the concordance, sensitivity, and specificity of commercially available contrived materials with known variant-allele frequencies (VAFs) ranging from 0.1% to 5.0%. Each participating laboratory utilized its own proprietary evaluation procedures. The results demonstrated high levels of concordance and sensitivity at VAFs of >0.1%, but reduced concordance and sensitivity at a VAF of 0.1%; these findings were similar to those from previous studies, suggesting that commercially available contrived materials can support the evaluation of testing procedures across multiple technologies. Such materials may enable more objective comparisons of results on materials formulated in-house at each center in multicenter trials. A unique goal of the collaborative effort was to develop a data resource, the BLOODPAC Data Commons, now available to the liquid-biopsy community for further study. This resource can be used to support independent evaluations of results, data extension through data integration and new studies, and retrospective evaluation of data collection.
癌症血液分析图谱（BLOODPAC）联盟是一项合作项目，参与方包括来自公共部门、行业、学术界和监管机构的利益相关者，致力于制定液体活检的共享最佳实践。本报告描述了JFDI（Just Freaking Do It）研究的结果，这是BLOODPAC的一项倡议，旨在制定使用模拟游离循环肿瘤DNA的人工合成材料的标准，以比较评估临床实验室检测程序。九个独立实验室测试了已知变异等位基因频率（VAF）范围为0.1%至5.0%的市售人工合成材料的一致性、敏感性和特异性。每个参与实验室都采用了自己的专有评估程序。结果表明，VAF>0.1%时一致性和敏感性较高，但VAF为0.1%时一致性和敏感性降低；这些发现与之前的研究相似，表明市售人工合成材料可以支持对多种技术检测程序的评估。这类材料可能使多中心试验中各中心内部配制材料的结果比较更加客观。合作努力的一个独特目标是开发一个数据资源，即BLOODPAC数据共享库，目前可供液体活检领域的研究人员进一步研究使用。该资源可用于支持对结果的独立评估、通过数据整合和新研究进行数据扩展以及对数据收集的回顾性评估。
