The potential utility of circulating tumour DNA (ctDNA) in patient blood for cancer diagnostics and real-time monitoring of disease progression is highly recognized. However, the lack of automated and efficient methods for cell-free DNA (cfDNA) isolation from peripheral blood has remained a challenge for broader acceptance of liquid biopsy in general clinical settings. Here, we demonstrate a lab-on-a-disc system equipped with newly developed, electromagnetically actuated, and reversible diaphragm valves that allows fully automated and rapid (<30 min) isolation of cfDNA from whole blood (>3 ml) to achieve high detection sensitivity by minimizing the degradation of fragile ctDNA as well as contamination of wild-type DNA from abundant blood cells. As a proof of concept study, we used the lab-on-a-disc to isolate cfDNA from patients with non-small cell lung cancer and successfully detected epidermal growth factor receptor gene mutations (L858R, T790M) during targeted drug therapy. The proposed lab-on-a-disc enables a fully automated, rapid, and point-of-care cfDNA enrichment starting from whole blood to facilitate the wide use of liquid biopsy in routine clinical practice.

中文翻译：

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从全血中全自动现场分离cfDNA，用于癌症治疗监测†

血液中循环的肿瘤DNA（ctDNA）在癌症诊断和疾病进展的实时监测方面的潜在效用已得到广泛认可。然而，缺乏从外周血中分离无细胞DNA（cfDNA）的自动化有效方法仍然是在常规临床环境中更广泛接受液体活检的挑战。在这里，我们展示了一个磁盘实验室系统，该系统配备了新开发的，电磁驱动的和可逆的隔膜阀，该阀允许全自动和快速（<30分钟）从全血（> 3 ml）中分离出cfDNA。通过最小化易碎ctDNA的降解以及丰富血细胞对野生型DNA的污染来实现检测灵敏度。作为概念研究的证明，我们使用光盘实验室从非小细胞肺癌患者中分离了cfDNA，并在靶向药物治疗期间成功检测到了表皮生长因子受体基因突变（L858R，T790M）。拟议中的盘上实验室可实现从全血开始的全自动，快速和即时护理cfDNA富集，以促进液体活检在常规临床实践中的广泛使用。