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将体细胞和种系下一代测序整合到常规临床肿瘤学实践中。

Integrating Somatic and Germline Next-Generation Sequencing Into Routine Clinical Oncology Practice.

机构信息

Department of Individualized Cancer Management, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL.

Department of Oncologic Sciences, University of South Florida, Tampa, FL.

出版信息

JCO Precis Oncol. 2021 May 20;5. doi: 10.1200/PO.20.00513. eCollection 2021.

Abstract

Next-generation sequencing (NGS) is rapidly expanding into routine oncology practice. Genetic variations in both the cancer and inherited genomes are informative for hereditary cancer risk, prognosis, and treatment strategies. Herein, we focus on the clinical perspective of integrating NGS results into patient care to assist with therapeutic decision making. Five key considerations are addressed for operationalization of NGS testing and application of results to patient care as follows: (1) NGS test ordering and workflow design; (2) result reporting, curation, and storage; (3) clinical consultation services that provide test interpretations and identify opportunities for molecularly guided therapy; (4) presentation of genetic information within the electronic health record; and (5) education of providers and patients. Several of these key considerations center on informatics tools that support NGS test ordering and referencing back to the results for therapeutic purposes. Clinical decision support tools embedded within the electronic health record can assist with NGS test utilization and identifying opportunities for targeted therapy including clinical trial eligibility. Challenges for project and change management in operationalizing NGS-supported, evidence-based patient care in the context of current information technology systems with appropriate clinical data standards are discussed, and solutions for overcoming barriers are provided.

摘要

下一代测序(NGS)正在迅速扩展到肿瘤学的常规实践中。癌症和遗传基因组中的基因变异为遗传性癌症风险、预后和治疗策略提供了信息。在此,我们重点关注将 NGS 结果整合到患者护理中以协助治疗决策的临床观点。为了将 NGS 测试付诸实践并将结果应用于患者护理,需要考虑以下五个关键因素:(1)NGS 测试的订购和工作流程设计;(2)结果报告、策管和存储;(3)提供测试解释和确定分子指导治疗机会的临床咨询服务;(4)在电子健康记录中呈现遗传信息;(5)向提供者和患者进行教育。其中几个关键因素集中在支持 NGS 测试订购并为治疗目的参考结果的信息学工具上。电子健康记录中嵌入的临床决策支持工具可以协助 NGS 测试的使用,并确定包括临床试验资格在内的靶向治疗机会。讨论了在当前信息技术系统中实施基于 NGS 的循证患者护理的项目和变更管理方面的挑战,并提供了解决障碍的解决方案。

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