Ebbert Jon O, Hawk Ernest T, Chambers Christopher V, Tempero Margaret A, Fishman Elliot K, Ravenell Jospeh E, Beer Tomasz M, Rego Seema P
Mayo Clinic, Rochester, MN, USA.
MD Anderson Cancer Center, Houston, TX, USA.
Cancer Biomark. 2025 Feb;42(2):18758592241297849. doi: 10.1177/18758592241297849. Epub 2025 Apr 2.
Guideline-recommended screening programs exist for only a few single-cancer types, and these cancers represent less than one-half of all new cancer cases diagnosed each year in the U.S. In addition, these "single-cancer" standard of care (SoC) screening tests vary in accuracy, adherence, and effectiveness, though all are generally understood to lead to reductions in cancer-related mortality. Recent advances in high-throughput technologies and machine learning have facilitated the development of blood-based multi-cancer early detection (MCED) tests. The opportunity for early detection of multiple cancers with a single blood test holds promise in addressing the current unmet need in cancer screening. By complementing existing SoC screening, MCED tests have the potential to detect a wide range of cancers at earlier stages when patients are asymptomatic, enabling more effective treatment options and improved cancer outcomes. MCED tests are positioned to be utilized as a complementary screening tool to improve screening adherence at the population level, to broaden screening availability for individuals who are not adherent with SoC screening programs, as well as for those who may harbor cancers that do not have SoC testing available. Published work to date has primarily focused on test performance relating to sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV). MCED tests will require approval through the pre-market approval pathway from the United States Food and Drug Administration. Additional studies will be needed to demonstrate clinical utility (i.e., improvements in health outcomes) and establish optimal implementation strategies, (i.e., testing intervals), follow-up and logistics of shared decision making. Here, we propose core attributes of MCED testing for which clinical data are needed to ideally position MCED testing for widespread use in clinical practice.
指南推荐的筛查项目仅针对少数几种单一癌症类型,而这些癌症在美国每年新诊断的所有癌症病例中所占比例不到一半。此外,这些“单一癌症”的标准护理(SoC)筛查测试在准确性、依从性和有效性方面各不相同,尽管人们普遍认为所有这些测试都能降低癌症相关死亡率。高通量技术和机器学习的最新进展推动了基于血液的多癌早期检测(MCED)测试的发展。通过一次血液检测早期发现多种癌症的机会有望满足目前癌症筛查中未得到满足的需求。通过补充现有的SoC筛查,MCED测试有可能在患者无症状的早期阶段检测出多种癌症,从而实现更有效的治疗选择并改善癌症治疗结果。MCED测试有望作为一种补充性筛查工具,以提高人群层面的筛查依从性,扩大对未遵守SoC筛查项目的个体以及那些可能患有尚无SoC检测方法的癌症患者的筛查范围。迄今为止发表的工作主要集中在与灵敏度、特异性、阳性预测值(PPV)和阴性预测值(NPV)相关的测试性能上。MCED测试需要通过美国食品药品监督管理局的上市前批准途径获得批准。还需要进行更多研究来证明临床效用(即健康结果的改善),并制定最佳实施策略(即检测间隔)、后续跟进以及共同决策的流程。在此,我们提出了MCED测试的核心属性,需要临床数据来理想地定位MCED测试,以便在临床实践中广泛应用。