Department of Medical Oncology, St. Lukes's Hospital, Thessaloniki, Greece.
European University Cyprus, Limassol, Cyprus.
Genome Med. 2022 Aug 31;14(1):101. doi: 10.1186/s13073-022-01102-1.
Recent rapid biotechnological breakthroughs have led to the identification of complex and unique molecular features that drive malignancies. Precision medicine has exploited next-generation sequencing and matched targeted therapy/immunotherapy deployment to successfully transform the outlook for several fatal cancers. Tumor and liquid biopsy genomic profiling and transcriptomic, immunomic, and proteomic interrogation can now all be leveraged to optimize therapy. Multiple new trial designs, including basket and umbrella trials, master platform trials, and N-of-1 patient-centric studies, are beginning to supplant standard phase I, II, and III protocols, allowing for accelerated drug evaluation and approval and molecular-based individualized treatment. Furthermore, real-world data, as well as exploitation of digital apps and structured observational registries, and the utilization of machine learning and/or artificial intelligence, may further accelerate knowledge acquisition. Overall, clinical trials have evolved, shifting from tumor type-centered to gene-directed and histology-agnostic trials, with innovative adaptive designs and personalized combination treatment strategies tailored to individual biomarker profiles. Some, but not all, novel trials now demonstrate that matched therapy correlates with superior outcomes compared to non-matched therapy across tumor types and in specific cancers. To further improve the precision medicine paradigm, the strategy of matching drugs to patients based on molecular features should be implemented earlier in the disease course, and cancers should have comprehensive multi-omic (genomics, transcriptomics, proteomics, immunomic) tumor profiling. To overcome cancer complexity, moving from drug-centric to patient-centric individualized combination therapy is critical. This review focuses on the design, advantages, limitations, and challenges of a spectrum of clinical trial designs in the era of precision oncology.
最近生物技术的快速突破导致了识别复杂和独特的分子特征,这些特征驱动着恶性肿瘤的发生。精准医学利用下一代测序技术,并匹配靶向治疗/免疫治疗的部署,成功地改变了几种致命癌症的预后。肿瘤和液体活检的基因组分析以及转录组学、免疫组学和蛋白质组学检测现在都可以用来优化治疗。多种新的试验设计,包括篮子和伞式试验、主平台试验和 N-of-1 以患者为中心的研究,开始取代标准的 I、II 和 III 期方案,允许加速药物评估和批准以及基于分子的个体化治疗。此外,真实世界的数据,以及数字应用程序和结构化观察性登记处的利用,以及机器学习和/或人工智能的使用,可能会进一步加速知识的获取。总的来说,临床试验已经发展,从以肿瘤类型为中心转变为以基因为导向和组织学无偏见的试验,采用创新的适应性设计和针对个体生物标志物特征的个性化联合治疗策略。一些(但不是全部)新试验现在表明,与非匹配治疗相比,匹配治疗与肿瘤类型和特定癌症中的更好结果相关。为了进一步完善精准医学模式,应该在疾病过程的早期根据分子特征将药物与患者相匹配,并且癌症应该进行全面的多组学(基因组学、转录组学、蛋白质组学、免疫组学)肿瘤分析。为了克服癌症的复杂性,从以药物为中心转向以患者为中心的个体化联合治疗至关重要。这篇综述聚焦于精准肿瘤学时代一系列临床试验设计的设计、优势、局限性和挑战。