Grady William M
Gastroenterology, University of Washington School of Medicine, Seattle, USA.
Translational Science and Therapeutics Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.
Dig Dis Sci. 2025 Jan 30. doi: 10.1007/s10620-024-08839-2.
Current cancer screening methods are effective for detecting early stage cancers and even preventing some cancers, but their effectiveness has only been demonstrated for a handful of cancers, and for many cancers, there are no screening tests clinically available. In addition, the majority of the screening methods are not ideal, resulting in suboptimal compliance and the occurrence of preventable cancers. A screening test that is convenient, safe, accurate and that can screen for multiple cancers is an ideal screening test that would address many of the shortcomings of the current tests. Multi-cancer detection tests (MCD) have the potential to meet these challenges and have engendered substantial enthusiasm in light of this. Using advances in DNA sequencing technology, cancer epigenetics and artificial intelligence, they are able to detect a large number of cancers predominantly via the patterns of methylated DNA alterations, DNA sequence alterations, and DNA fragment patterns of cell free DNA in the plasma and can accurately distinguish the cancer site of origin. Of note, some of the tests also combine circulating free DNA (cfDNA) with protein-based markers. However, for the majority of early stage cancers, the sensitivity is modest and below that of most of the current standard of care cancer screening tests. Furthermore, the clinical utility of screening for many of the cancers detectable by MCD tests remains to be proven. Here we describe the features of MCD tests, review the current data supporting their potential to be used in the clinic for cancer screening, and discuss the knowledge gaps surrounding understanding their clinical utility, with a focus on GI cancer screening.
当前的癌症筛查方法在检测早期癌症甚至预防某些癌症方面是有效的,但它们的有效性仅在少数几种癌症中得到证实,而且对于许多癌症来说,临床上尚无可用的筛查测试。此外,大多数筛查方法并不理想,导致依从性欠佳以及可预防癌症的发生。一种方便、安全、准确且能筛查多种癌症的筛查测试是一种理想的筛查测试,它可以解决当前测试的许多缺点。多癌检测测试(MCD)有潜力应对这些挑战,并因此引发了极大的热情。利用DNA测序技术、癌症表观遗传学和人工智能的进展,它们能够主要通过血浆中游离DNA的甲基化DNA改变模式、DNA序列改变和DNA片段模式检测大量癌症,并能准确区分癌症的起源部位。值得注意的是,一些测试还将循环游离DNA(cfDNA)与基于蛋白质的标志物相结合。然而,对于大多数早期癌症,其敏感性一般,低于目前大多数癌症标准护理筛查测试的敏感性。此外,通过MCD测试可检测的许多癌症的筛查的临床效用仍有待证实。在这里,我们描述了MCD测试的特点,回顾了支持其在临床上用于癌症筛查潜力的当前数据,并讨论了围绕理解其临床效用的知识空白,重点是胃肠道癌症筛查。