Application of improved Next Generation Sequencing technology to identfy somatic mutations in circulating cell-free tumour DNA in blood.

基因突变已被验证为管理各种癌症的强大预测生物标志物;对这些突变的检测目前是个性化治疗决策的标准。广泛的癌症释放循环无细胞肿瘤DNA（ctDNA）到外周血中，这已被充分证实。ctDNA作为一种非侵入性的生物标志物，用于检测恶性肿瘤的存在、评估预后、跟踪治疗反应或监测复发，已引起越来越多的关注。下一代测序（NGS）彻底改变了基因组探索，并正在推动精确诊断的实施。然而，目前NGS方法的灵敏度和准确度是有限的，这是一个根本性的限制，特别是当旨在鉴定异质混合物中的罕见突变体时，如血浆ctDNA。为了克服这些局限性，GeneFirst开发了一种改进的NGS技术，提高了检测多种突变的灵敏度和准确性;这使得它适用于检测血液中循环无细胞肿瘤DNA中的超罕见癌症基因突变。

Gene mutations have been validated as powerful predictive biomarkers in the management of variouscancers; testing for these mutations is currently standard to personalise treatment decisions. It has beenwell documented that a broad spectrum of cancers release circulating cell-free tumour DNA (ctDNA) intoperipheral blood. There has been growing interest in use of ctDNA as a non-invasive biomarker to detectthe presence of malignancy, gauge prognosis, follow treatment response or monitor for recurrence. NextGeneration Sequencing (NGS) has revolutionised genomic exploration and is driving the implementationof precision diagnostics. However, the sensitivity and accuracy of current NGS methods are limited whichis a fundamental limitation particularly when aiming to identify rare mutants in heterogeneous mixtures,such as plasma ctDNA. To overcome these limitations, GeneFirst has developed an improved NGStechnology with increased sensitivity and accuracy for the detection of multiple mutations; this makes itsuitable for detecting ultra-rare cancer gene mutations in circulating cell-free tumour DNA in blood.