Clinical tumor sequencing: opportunities and challenges for precision cancer medicine.
Clinical tumor sequencing: opportunities and challenges for precision cancer medicine.
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DOI：
10.14694/edbook_am.2015.35.e175
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发表时间：
2015
期刊：
影响因子：
--
通讯作者：
Roychowdhury S
中科院分区：
文献类型：
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作者：
Damodaran S;Berger MF;Roychowdhury S
肿瘤基因组测序的进展使得能够发现导致新疗法的可操作的改变。目前，有批准的靶向治疗跨越各种肿瘤，可以匹配基因组改变，如点突变，基因扩增和易位。由于下一代测序（NGS）技术降低了成本并提高了通量，因此出现了检测这些基因组改变的工具。NGS已成功用于开发生物标志物以评估癌症的易感性、诊断、预后和治疗。然而，临床应用在肿瘤标本采集、分析、隐私、解释和罕见癌症亚群的药物开发方面提出了一些潜在的挑战。虽然全基因组测序提供了最完整的肿瘤分析策略，但其目前在临床护理中的实用性有限。因此，学术机构和商业供应商更常使用靶向基因捕获面板进行临床级癌症基因组检测，以评估匹配疗法的分子资格，而全外显子组和转录组（RNASeq）测序则用于发现研究。这篇综述讨论了与癌症基因组检测在精准癌症医学中的应用相关的策略、临床挑战和机遇。
Advances in tumor genome sequencing have enabled discovery of actionable alterations leading to novel therapies. Currently, there are approved targeted therapies across various tumors that can be matched to genomic alterations, such as point mutations, gene amplification, and translocations. Tools to detect these genomic alterations have emerged as a result of decreasing costs and improved throughput enabled by next-generation sequencing (NGS) technologies. NGS has been successfully utilized for developing biomarkers to assess susceptibility, diagnosis, prognosis, and treatment of cancers. However, clinical application presents some potential challenges in terms of tumor specimen acquisition, analysis, privacy, interpretation, and drug development in rare cancer subsets. Although whole-genome sequencing offers the most complete strategy for tumor analysis, its present utility in clinical care is limited. Consequently, targeted gene capture panels are more commonly employed by academic institutions and commercial vendors for clinical grade cancer genomic testing to assess molecular eligibility for matching therapies, whereas whole-exome and transcriptome (RNASeq) sequencing are being utilized for discovery research. This review discusses the strategies, clinical challenges, and opportunities associated with the application of cancer genomic testing for precision cancer medicine.