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.

中文翻译：

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在临床癌症护理中解释和整合基因组测试结果：概述和实践指南


过去十年，基因组测试（包括基因组、全外显子组测序和全基因组测序）在研究和临床癌症护理中的使用取得了快速进展。这些进展为表征癌症的分子属性创造了广泛的机会，揭示了与癌症相关的畸变的一个子集，称为驱动突变。这些驱动突变的识别可以揭示癌细胞对靶向治疗的脆弱性，从而导致各种恶性肿瘤的新型诊断和个性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，已经成为癌症治疗的主要内容，并将在未来几年呈指数级增长。尽管基因组测试可以通过告知癌症风险、预后和治疗选择来带来更好的结果，但它们在常规癌症护理中仍未得到充分利用。一个促成因素是对其临床效用缺乏了解以及广大肿瘤学界难以解释结果。目前，针对没有癌症基因组学专业知识的临床医生提供的有关如何在临床环境中解释和整合基因组信息的实用指南还很有限。基于癌症的基因组基础和精准肿瘤学的概念，作者制定了实用指南来帮助解释基因组测试结果，从而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更广泛实施的挑战。