National Center for Chronic and Non-Communicable Disease Control and Prevention, Chinese Center for Disease Control and Prevention, 27 Nanwei Road, Xicheng District, Beijing, 100050, China.
Singlera Genomics (Shanghai) Inc, Shanghai, 201321, China.
BMC Med. 2024 Nov 27;22(1):560. doi: 10.1186/s12916-024-03777-2.
Effective screening for colorectal cancer (CRC) enables earlier diagnosis and intervention to improve patient survival.
In this study, we prospectively conducted a blood-based CRC screening program for community residents in Hanjiang District, Yangzhou City, and evaluated the screening efficacy of a blood-based multi-locus DNA methylation assay (ColonAiQ). The ColonAiQ-positive rate and colonoscopy participation rate of the population, detection rate of intestinal lesions, and positive predictive value (PPV) of CRC and advanced adenoma (AA) were calculated, and the associated factors were explored.
A total of 105,285 participants were enrolled from January 2021 to December 2022, all of whom completed the ColonAiQ assay, yielding a positive rate of 6.42% (6759/105,285). The colonoscopy compliance rate was 48.56% (3282/6759). Intestinal lesions were detected in 1773 individuals (54.02%), including 63 cases of CRCs (predominately early-stage), 1195 adenomas (441 cases of AAs), 327 polyps, and 188 other benign lesions. CRC patients exhibited higher ColonAiQ scores and more positive loci compared to healthy individuals. The PPVs were 1.92% for CRC and 13.44% for AA. Among participants, 66,121 (62.8%) completed questionnaires graded by the Asia-Pacific Colorectal Screening score, with 12,139 (18.36%) classified in the high-risk tier. High-risk participants had a higher ColonAiQ-positive rate (11.07%) and PPVs for CRC (3.46%) and AA (22.18%). Factors associated with increased detection rates for CRC and AA included male gender, older age, a history of alcohol consumption, and prior polyps.
Our study demonstrated that ColonAiQ assay effectively identifies high-risk population. These findings strongly suggest that the ColonAiQ assay represents a promising strategy for the early detection of CRC and AA in individuals at average risk.
Registered at ClinicalTrials.gov (NCT05336539).
有效的结直肠癌（CRC）筛查可以实现早期诊断和干预，从而提高患者的生存率。
本研究前瞻性地对扬州市邗江区社区居民进行了基于血液的 CRC 筛查项目，并评估了基于血液的多基因座 DNA 甲基化检测（ColonAiQ）的筛查效果。计算了人群的 ColonAiQ 阳性率和结肠镜参与率、肠道病变的检出率、CRC 和高级腺瘤（AA）的阳性预测值（PPV），并探讨了相关因素。
2021 年 1 月至 2022 年 12 月共纳入 105285 名参与者，均完成了 ColonAiQ 检测，阳性率为 6.42%（6759/105285）。结肠镜检查的依从率为 48.56%（3282/6759）。1773 名个体（54.02%）检出肠道病变，包括 63 例 CRC（主要为早期）、1195 例腺瘤（441 例 AA）、327 例息肉和 188 例其他良性病变。CRC 患者的 ColonAiQ 评分和阳性位点均高于健康个体。CRC 的 PPV 为 1.92%，AA 的 PPV 为 13.44%。在参与者中，66121 名（62.8%）完成了亚太结直肠癌筛查评分问卷，其中 12139 名（18.36%）被归类为高危人群。高危人群的 ColonAiQ 阳性率（11.07%）和 CRC（3.46%）及 AA（22.18%）的 PPV 均较高。与 CRC 和 AA 检出率增加相关的因素包括男性、年龄较大、饮酒史和既往息肉。
本研究表明 ColonAiQ 检测能够有效识别高危人群。这些发现强烈表明，ColonAiQ 检测是一种有前途的策略，可以在普通风险人群中早期发现 CRC 和 AA。
ClinicalTrials.gov 注册（NCT05336539）。
