Circulating tumor DNA holds substantial promise as an early detection biomarker, particularly for cancers that do not have currently accepted screening methodologies, such as ovarian, pancreatic, and gastric cancers. Many features intrinsic to ctDNA analysis may be leveraged to enhance its use as an early cancer detection biomarker: including ctDNA fragment lengths, DNA copy number variations, and associated patient phenotypic information. Furthermore, ctDNA testing may be synergistically used with other multi-omic biomarkers to enhance early detection. For instance, assays may incorporate early detection proteins (i.e., CA-125), epigenetic markers, circulating tumor RNA, nucleosomes, exosomes, and associated immune markers. Many companies are currently competing to develop a marketable early cancer detection test that leverages ctDNA. Although some hurdles (like early stage disease assay accuracy, high implementation costs, confounding from clonal hematopoiesis, and lack of clinical utility studies) need to be addressed before integration into healthcare, ctDNA assays hold substantial potential as an early cancer screening test.

中文翻译：

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循环肿瘤 DNA 作为早期癌症检测工具。

循环肿瘤 DNA 作为早期检测生物标志物具有巨大的前景，特别是对于目前尚无公认的筛查方法的癌症，例如卵巢癌、胰腺癌和胃癌。ctDNA 分析固有的许多特征可用于增强其作为早期癌症检测生物标志物的用途：包括 ctDNA 片段长度、DNA 拷贝数变异和相关患者表型信息。此外，ctDNA 检测可与其他多组学生物标志物协同使用，以增强早期检测。例如，检测可能包含早期检测蛋白（即 CA-125）、表观遗传标记、循环肿瘤 RNA、核小体、外泌体和相关免疫标记。许多公司目前正在竞相开发一种利用 ctDNA 的适销对路的早期癌症检测测试。尽管在融入医疗保健之前需要解决一些障碍（例如早期疾病检测准确性、高实施成本、克隆造血的混淆以及缺乏临床效用研究），但 ctDNA 检测作为早期癌症筛查测试具有巨大的潜力。