破局拉美结直肠癌诊断瓶颈：华大基因无创分子检测赋能基层筛查

结直肠癌是拉美地区最常见的癌症之一，但患者从出现症状到接受治疗往往耽误约7个月，内镜资源和消化专科医生严重不足，筛查体系长期被动应对晚期病例。

华大基因COLOTECT^?以粪便DNA甲基化检测实现无创早筛，在癌前阶段发出预警，并作为分流工具为内镜资源减负。近日，该产品在墨西哥获COFEPRIS注册证，这一技术正从监管准入走向拉美基层的临床落地。

本文将梳理分子早筛如何助力肿瘤防控由“被动诊疗”转变为“主动预防”，并为医疗资源紧张的地区提供可复制的早筛路径。

本文原文已以英语、西语、葡语在拉美多国传播，以下中文部分为文章对照翻译，供读者参考。点击文末“阅读原文”，查看报道原文。

结直肠癌是拉丁美洲当前最紧迫、但仍可干预的癌症问题之一。在墨西哥，消化道肿瘤仍是癌症死亡的主要原因，而结直肠癌在美洲拉丁裔人群中已是第二常见的恶性肿瘤。

Colorectal cancer (CRC) represents one of the most urgent yet addressable oncology challenges confronting Latin America (LATAM). In Mexico, digestive tract cancers remain a leading contributor to cancer mortality, while CRC ranks as the second-most common malignant neoplasm among Latino populations in the Americas.

这场危机的根源并非治疗手段不够先进，而是诊断环节存在严重瓶颈。从首次出现症状到接受规范治疗，往往要耽误约7个月，而延误恰恰发生在初次就诊与确诊之间。

This crisis stems less from a lack of therapeutic advances than from severe diagnostic bottlenecks. The median interval from initial symptom onset to definitive treatment stretches to 7 months. The delay occurs between initial clinical evaluation and diagnostic confirmation.

当国家医疗体系只能依靠晚期症状就诊来发现病例时，肿瘤诊疗往往会陷入被动、费用高昂、且最终只能做姑息处理。华大基因的COLOTECT^?展示了无创表观遗传甲基化筛查如何实现早期拦截，在可治愈的窗口关闭之前补上这道诊断缺口。

When health systems rely on late stage symptomatic presentation, oncology care becomes reactive, expensive, and frequently palliative. BGI Genomics' COLOTECT^? demonstrates how non-invasive epigenetic methylation screening can intercept disease early, bridging this diagnostic gap before curable windows close.

The Diagnostic Triage Dilemma

诊断分流的困局

结肠镜仍是结直肠癌评估的金标准，但拉美各地的公立医疗基础设施普遍面临内镜室和消化专科医生严重不足的问题——排队候诊时间长，临床资源被消耗在低产出、已有症状的病例上，而非预防性干预。

While colonoscopy remains the gold standard for CRC evaluation, public healthcare infrastructure across Latin America faces acute shortages of endoscopy suites and specialist gastroenterologists. Long waiting lists tie up clinical resources with low-yield, symptomatic cases rather than preventative intervention.

为填补这一缺口，无创早筛在全球范围内加快了监管审批步伐，先进的多靶点粪便DNA检测和新兴的血液液体活检相继获批。不过，不同筛查层级的技术临床性能差异明显。

To bridge this gap, non-invasive early detection has gained regulatory momentum worldwide, driven by approvals for advanced multi-target stool DNA assays and emerging blood-based liquid biopsies. However, clinical performance varies by screening tier.

结直肠癌三大筛查方式（传统粪便、血液、粪便DNA甲基化）对于癌症及癌前病变的检测灵敏度对比

2014年至2026年间，美国食品药品监督管理局（FDA）先后批准了多款先进分子检测产品，涵盖游离DNA血液检测和粪便DNA甲基化平台。这一系列获批说明，分子早筛已经成熟为主流临床标准。

Between 2014 and 2026, the FDA approved multiple advanced molecular tests across both cell free DNA blood assays and fecal DNA methylation platforms. These successive clearances demonstrate that molecular early detection has matured into a mainstream clinical standard.

Scaling Molecular Screening in Primary Care

让分子筛查在基层可落地

要想在整体人群中提高生存率，分子筛查不能只依赖大医院，必须在基层也能落地。只有让这类检测真正下沉到基层，临床筛查流程才能随之改变，COLOTECT^?就是典型的例子。

To alter population-level survival curves, molecular screening must be operationally viable outside tertiary hospitals. When designed for decentralized deployment, epigenetic assays transform the clinical workflow. COLOTECT^? is a case in point:

更早发现癌前病变：

该检测通过捕捉SDC2、ADHFE1、PPP2R5C等标志物的基因变化，能在癌前腺瘤阶段就发现异常，远早于传统粪便免疫化学检测（FIT）所依赖的病灶出血。

Earlier Biological Interception: 

Assays targeting hypermethylation across validated biomarkers—such as SDC2, ADHFE1, and PPP2R5C—detect cellular alterations in precancerous adenomas long before visible bleeding triggers traditional fecal immunochemical tests (FIT).

社区层面可及：

这种粪便采样无痛、无创，无需清肠、空腹或打麻药，可解决农村和偏远地区人群做筛查时面临的主要顾虑。

Community-Level Accessibility: 

Painless, non-invasive stool collection requires no bowel preparation, fasting, or sedation. This eliminates major social and logistical barriers that depress screening compliance in rural and underserved districts.

优化内镜资源：

医疗体系无需让所有人直接去做结肠镜，而是可以先通过分子检测把高风险人群挑出来。真实世界数据显示，在分子检测阳性后去做结肠镜的人群中，约80%都确诊了肠道异常。

Endoscopy Suite Optimization: 

Rather than screening unselected populations via colonoscopy, health systems can deploy molecular testing as an objective gatekeeper. Real-world data show that approximately 80% of individuals with positive results who underwent colonoscopy had confirmed colorectal abnormalities.

无创分子检测的引入，推动肿瘤诊疗从“被动应对”转向“主动预防”。通过在转诊专科之前先筛出高风险人群，拉美各国的医疗体系能有效缓解结肠镜需求的积压，缩短确诊窗口期，在可治愈阶段及早发现结直肠癌，从而让筛查系统真正变得公平可及，挽救更多生命。

Integrating non-invasive molecular testing transforms reactive oncology into proactive prevention. By triaging high-risk individuals before specialist referral, LATAM health systems can eliminate severe colonoscopy backlogs, shorten dangerous diagnostic delays, and detect CRC at curable stages. It turns an overburdened screening infrastructure into an equitable, life-saving reality.

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