背景:精准医学在临床实践中的应用意味着对可操作的基因组改变进行全面评估,以简化治疗决策。通过下一代测序(NGS)对肿瘤进行全面的基因组分析代表了一个巨大的机会,但也存在一些挑战。在2023年圣拉斐尔撤退期间,我们旨在为NGS在尿路上皮癌(UC)中的最佳应用提供专家建议.
方法:采用改进的德尔菲法,由来自欧洲和美国中心的12名UC专家组成的小组参与,包括肿瘤学家,泌尿科医师,病理学家,翻译科学家。初步调查,在会议之前进行的,向专家组发表了15份声明。当每个陈述达成≥70%的一致意见时,就定义了共识。会议期间讨论了未达到共识门槛的声明。
结果:涉及患者选择的15项声明中有9项,癌症特征,和NGS检测的类型,在调查中达成共识。其余六项陈述解决了NGS使用的最佳时机,NGS检测的理想肿瘤生物样本来源,会议期间讨论了评估某些基因组发现的种系性质的后续需求,导致会议结束时达成一致意见。
结论:这项建立共识的努力解决了关于在UC中使用NGS的多个未解决的问题。专家的意见是赞成更广泛地使用NGS。在建议/指南可能受到限制的情况下,这些见解可能有助于临床医生提供知情咨询,并提高精确和个性化治疗的标准.
BACKGROUND: The application of precision medicine in clinical practice implies a thorough evaluation of actionable genomic alterations to streamline therapeutic decision making. Comprehensive genomic profiling of tumor via next-generation sequencing (NGS) represents a great opportunity but also several challenges. During the 2023 San Raffaele Retreat, we aimed to provide expert recommendations for the optimal use of NGS in urothelial carcinoma (UC).
METHODS: A modified Delphi method was utilized, involving a panel of 12 experts in UC from European and United States centers, including oncologists, urologists, pathologists, and translational scientists. An initial survey, conducted before the meeting, delivered 15 statements to the panel. A consensus was defined when ≥70% agreement was reached for each statement. Statements not meeting the consensus threshold were discussed during the meeting.
RESULTS: Nine of the 15 statements covering patient selection, cancer characteristics, and type of NGS assay, achieved a consensus during the survey. The remaining six statements addressing the optimal timing of NGS use, the ideal source of tumor biospecimen for NGS testing, and the subsequent need to evaluate the germline nature of certain genomic findings were discussed during the meeting, leading to unanimous agreement at the end of the conference.
CONCLUSIONS: This consensus-building effort addressed multiple unanswered questions regarding the use of NGS in UC. The opinion of experts was in favor of broader use of NGS. In a setting where recommendations/guidelines may be limited, these insights may aid clinicians to provide informed counselling and raise the bar of precision and personalized therapy.