Implementation of Whole-Genome and Transcriptome Sequencing Into Clinical Cancer Care.
Implementation of Whole-Genome and Transcriptome Sequencing Into Clinical Cancer Care.
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DOI：
10.1200/po.22.00245
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发表时间：
2022-12
影响因子：
4.6
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中科院分区：
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全基因组和转录组测序（WGTS）的结合有望改变癌症患者的诊断和治疗。WGTS是一种全面的精确诊断检测，正开始取代世界各地卫生保健系统中肿瘤分子检测的护理标准；然而，这种一流测试的实现和广泛采用是缺乏的。在这里，我们解决了将WGTS整合到癌症诊断和治疗选择中的障碍，并回答了有关不同癌症类型的效用、成本效益和可负担性以及实施WGTS的其他实际考虑因素的问题。我们回顾了目前在卫生保健系统中实施WGTS的研究，并提供了临床证据的摘要和对实施WGTS的实际考虑的见解。我们反映了该测试的监管、成本、报销和偶然发现方面。WGTS是一种适合多种肿瘤类型的综合临床试验，可以取代目前执行的多种级联试验方法。降低测序成本，增加临床相关畸变的数量，以及发现更复杂的治疗反应生物标志物，应该为卫生保健系统和实验室将WGTS应用于临床实践铺平道路，从而改变癌症患者的诊断和治疗。
The combination of whole-genome and transcriptome sequencing (WGTS) is expected to transform diagnosis and treatment for patients with cancer. WGTS is a comprehensive precision diagnostic test that is starting to replace the standard of care for oncology molecular testing in health care systems around the world; however, the implementation and widescale adoption of this best-in-class testing is lacking. Here, we address the barriers in integrating WGTS for cancer diagnostics and treatment selection and answer questions regarding utility in different cancer types, cost-effectiveness and affordability, and other practical considerations for WGTS implementation. We review the current studies implementing WGTS in health care systems and provide a synopsis of the clinical evidence and insights into practical considerations for WGTS implementation. We reflect on regulatory, costs, reimbursement, and incidental findings aspects of this test. WGTS is an appropriate comprehensive clinical test for many tumor types and can replace multiple, cascade testing approaches currently performed. Decreasing sequencing cost, increasing number of clinically relevant aberrations and discovery of more complex biomarkers of treatment response, should pave the way for health care systems and laboratories in implementing WGTS into clinical practice, to transform diagnosis and treatment for patients with cancer.