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解读和整合临床癌症护理中的基因组检测结果:概述和实用指南。

Interpreting and integrating genomic tests results in clinical cancer care: Overview and practical guidance.

机构信息

Wolfson Wohl Cancer Research Center, School of Cancer Sciences, University of Glasgow, Glasgow, UK.

Hull York Medical School, York, UK.

出版信息

CA Cancer J Clin. 2024 May-Jun;74(3):264-285. doi: 10.3322/caac.21825. Epub 2024 Jan 4.

Abstract

The last decade has seen rapid progress in the use of genomic tests, including gene panels, whole-exome sequencing, and whole-genome sequencing, in research and clinical cancer care. These advances have created expansive opportunities to characterize the molecular attributes of cancer, revealing a subset of cancer-associated aberrations called driver mutations. The identification of these driver mutations can unearth vulnerabilities of cancer cells to targeted therapeutics, which has led to the development and approval of novel diagnostics and personalized interventions in various malignancies. The applications of this modern approach, often referred to as precision oncology or precision cancer medicine, are already becoming a staple in cancer care and will expand exponentially over the coming years. Although genomic tests can lead to better outcomes by informing cancer risk, prognosis, and therapeutic selection, they remain underutilized in routine cancer care. A contributing factor is a lack of understanding of their clinical utility and the difficulty of results interpretation by the broad oncology community. Practical guidelines on how to interpret and integrate genomic information in the clinical setting, addressed to clinicians without expertise in cancer genomics, are currently limited. Building upon the genomic foundations of cancer and the concept of precision oncology, the authors have developed practical guidance to aid the interpretation of genomic test results that help inform clinical decision making for patients with cancer. They also discuss the challenges that prevent the wider implementation of precision oncology.

摘要

过去十年,基因组检测技术(包括基因面板、外显子组测序和全基因组测序)在癌症研究和临床护理中的应用取得了快速进展。这些进展为描述癌症的分子特征创造了广阔的机会,揭示了一类称为驱动突变的癌症相关异常。鉴定这些驱动突变可以发现癌细胞对靶向治疗的脆弱性,从而导致各种恶性肿瘤新型诊断和个体化干预措施的开发和批准。这种现代方法的应用,通常被称为精准肿瘤学或精准癌症医学,已经成为癌症护理的常规手段,并将在未来几年呈指数级扩展。尽管基因组检测通过告知癌症风险、预后和治疗选择可以带来更好的结果,但它们在常规癌症护理中的应用仍然不足。一个促成因素是缺乏对其临床效用的理解,以及广大肿瘤学界对结果解释的困难。目前针对缺乏癌症基因组学专业知识的临床医生,关于如何在临床环境中解释和整合基因组信息的实用指南非常有限。作者基于癌症的基因组基础和精准肿瘤学的概念,制定了实用指南,以帮助解释基因组检测结果,为癌症患者的临床决策提供信息。他们还讨论了阻碍精准肿瘤学广泛实施的挑战。

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