文章：

早期发现的案例

The case for early detection

原文发布日期：2003-04-01

DOI: 10.1038/nrc1041

类型: Review Article

开放获取: 否

要点：

1. The promise of early detection is that it will identify cancer while still localized and curable, preventing not only mortality, but also reducing morbidity and costs.
2. Cervical cancer is a historical illustration of the promise of early detection; countries with broad screening programmes have markedly reduced disease-related deaths. However, the efficacy and practicality of screening tests for most other cancers remain controversial.
3. The advent of new technologies — including transcript (gene-expression) analysis, genomic DNA-based methods and proteomics — offer many new opportunities for developing biomarker-based tests that are less expensive and more accurate than existing screening tests.
4. To develop and fully evaluate a new screening test requires attention to all phases of biomarker development, including identification of promising biomarkers, production of assays that can detect both clinical and pre-clinical disease, development of tests that combine sensitive biomarkers to achieve greater diagnostic accuracy, and evaluation of the impact of the tests on disease mortality and costs.
5. With many potential biomarkers in the early-detection pipeline, it will be important to develop strategies for evaluating the benefits and costs of biomarker-based tests within a reasonable time frame.
6. The dissemination of screening tests that have been inadequately evaluated can have grave consequences, including invasive follow-up of healthy individuals, morbidity from unnecessary treatment and vastly increased costs to the medical system. Although randomized screening trials remain the ultimate test of screening efficacy in preventing disease-specific mortality, it will be important to develop these and other analytical approaches so that inferences about screening costs and benefits can be made in an efficient and timely fashion.

要点翻译：

1. 早期检测的承诺在于能在癌症仍处于局部可治愈阶段时识别出来，从而不仅预防死亡，还能降低发病率和治疗成本。
2. 宫颈癌是早期检测价值的历史例证；开展广泛筛查项目的国家已显著降低该疾病相关死亡率。然而，针对大多数其他癌症的筛查效果与实用性仍存争议。
3. 新技术（包括转录本基因表达分析、基于基因组DNA的方法和蛋白质组学）的出现为开发生物标志物检测提供了新机遇，这类检测比现有筛查方法成本更低、准确性更高。
4. 开发并全面评估新型筛查检测需关注生物标志物发展的所有阶段：包括有潜力生物标志物的识别、能检测临床与 preclinical 阶段疾病的检测方法开发、结合敏感生物标志物以提升诊断准确性的检测技术创建，以及评估检测对疾病死亡率和成本的影响。
5. 鉴于早期检测领域存在大量潜在生物标志物，制定策略以在合理时间框架内评估生物标志物检测的效益与成本至关重要。
6. 未经充分评估的筛查检测技术推广可能带来严重后果，包括对健康个体进行侵入性随访、不必要治疗导致的发病率上升，以及医疗系统成本激增。虽然随机筛查试验仍是检验筛查降低疾病特异性死亡率效果的终极标准，但开发此类试验及其他分析方法对于及时高效推断筛查成本与效益具有重要意义。

英文摘要：

Early detection represents one of the most promising approaches to reducing the growing cancer burden. It already has a key role in the management of cervical and breast cancer, and is likely to become more important in the control of colorectal, prostate and lung cancer. Early-detection research has recently been revitalized by the advent of novel molecular technologies that can identify cellular changes at the level of the genome or proteome, but how can we harness these new technologies to develop effective and practical screening tests?

摘要翻译： 

早期发现是减轻日益增长的癌症负担最有前景的方法之一。它已在宫颈癌和乳腺癌的管理中发挥关键作用，并可能在结直肠癌、前列腺癌和肺癌的防控中变得更加重要。早期检测研究最近因新型分子技术的出现而重新焕发活力，这些技术能够在基因组或蛋白质组层面识别细胞变化，但我们如何才能利用这些新技术开发出有效且实用的筛查检测方法？

原文链接：

The case for early detection