Clinical and analytical validation of FoundationOne®CDx, a comprehensive genomic profiling assay for solid tumors.
Clinical and analytical validation of FoundationOne®CDx, a comprehensive genomic profiling assay for solid tumors.
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DOI：
10.1371/journal.pone.0264138
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发表时间：
2022
期刊：
影响因子：
3.7
通讯作者：
Vietz C
中科院分区：
文献类型：
--
作者：
Milbury CA;Creeden J;Yip WK;Smith DL;Pattani V;Maxwell K;Sawchyn B;Gjoerup O;Meng W;Skoletsky J;Concepcion AD;Tang Y;Bai X;Dewal N;Ma P;Bailey ST;Thornton J;Pavlick DC;Frampton GM;Lieber D;White J;Burns C;Vietz C
FoundationOne®CDx（F1 CDx）是美国（US）食品药品监督管理局（FDA）批准的伴随诊断测试，用于根据批准的治疗产品标签识别可能从28种药物治疗中获益的患者。F1 CDx利用基于下一代测序（NGS）的综合基因组分析（CGP）技术来检测实体瘤中的324个癌症基因。F1 CDx报告了卵巢癌中已知的和可能的致病性短变异（SV）、拷贝数改变（CNA）和选择性重排，以及复杂的生物标志物，包括肿瘤突变负荷（TMB）和微卫星不稳定性（MSI），以及基因组杂合性丢失（gLOH）。CGP服务可以降低生物标志物检测的复杂性，使精准医学能够改善癌症患者的治疗决策和结果，但前提是检测结果可靠、准确，并在临床和分析上达到最高标准。本文中的分析证明了广泛的分析和临床验证支持F1 CDx的初始和后续FDA批准，以确保报告数据的高灵敏度、特异性和可靠性。分析验证包括对F1 CDx检测试剂性能的几项深入评价，包括检测限（LoD）、空白限（LoB）、精密度和SV（包括碱基取代[SUB]和插入/缺失[INDEL]）、CNA（包括扩增和纯合缺失）、基因组重排和选定复杂生物标志物的正交一致性。超过30，000个检测结果的分析验证包括大量且不断增加的证据，支持F1 CDx的临床实用性，以根据其肿瘤的基因组改变和生物标志物将实体瘤患者与靶向治疗或免疫治疗相匹配。F1 CDx可满足医疗服务提供者和患者接受基于指南的生物标志物检测的临床需求，帮助他们跟上快速发展的医学领域的步伐。
FoundationOne®CDx (F1CDx) is a United States (US) Food and Drug Administration (FDA)-approved companion diagnostic test to identify patients who may benefit from treatment in accordance with the approved therapeutic product labeling for 28 drug therapies. F1CDx utilizes next-generation sequencing (NGS)-based comprehensive genomic profiling (CGP) technology to examine 324 cancer genes in solid tumors. F1CDx reports known and likely pathogenic short variants (SVs), copy number alterations (CNAs), and select rearrangements, as well as complex biomarkers including tumor mutational burden (TMB) and microsatellite instability (MSI), in addition to genomic loss of heterozygosity (gLOH) in ovarian cancer. CGP services can reduce the complexity of biomarker testing, enabling precision medicine to improve treatment decision-making and outcomes for cancer patients, but only if test results are reliable, accurate, and validated clinically and analytically to the highest standard available. The analyses presented herein demonstrate the extensive analytical and clinical validation supporting the F1CDx initial and subsequent FDA approvals to ensure high sensitivity, specificity, and reliability of the data reported. The analytical validation included several in-depth evaluations of F1CDx assay performance including limit of detection (LoD), limit of blank (LoB), precision, and orthogonal concordance for SVs (including base substitutions [SUBs] and insertions/deletions [INDELs]), CNAs (including amplifications and homozygous deletions), genomic rearrangements, and select complex biomarkers. The assay validation of >30,000 test results comprises a considerable and increasing body of evidence that supports the clinical utility of F1CDx to match patients with solid tumors to targeted therapies or immunotherapies based on their tumor’s genomic alterations and biomarkers. F1CDx meets the clinical needs of providers and patients to receive guideline-based biomarker testing, helping them keep pace with a rapidly evolving field of medicine.
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影响因子：
5.8
作者：
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通讯作者：
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DOI：
10.1158/1078-0432.ccr-14-2683
发表时间：
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期刊：
Clinical cancer research : an official journal of the American Association for Cancer Research
影响因子：
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DOI：
10.1056/nejmoa1714448
发表时间：
2018-02-22
期刊：
The New England journal of medicine
影响因子：
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作者：
Drilon A;Laetsch TW;Kummar S;DuBois SG;Lassen UN;Demetri GD;Nathenson M;Doebele RC;Farago AF;Pappo AS;Turpin B;Dowlati A;Brose MS;Mascarenhas L;Federman N;Berlin J;El-Deiry WS;Baik C;Deeken J;Boni V;Nagasubramanian R;Taylor M;Rudzinski ER;Meric-Bernstam F;Sohal DPS;Ma PC;Raez LE;Hechtman JF;Benayed R;Ladanyi M;Tuch BB;Ebata K;Cruickshank S;Ku NC;Cox MC;Hawkins DS;Hong DS;Hyman DM
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Hyman DM