创新背景

BRCA1和BRCA2基因的改变会大大增加女性患卵巢癌的风险。预防性手术切除卵巢和输卵管是目前避免该病的唯一方法。建议携带BRCA突变的人从35岁(BRCA1)或40岁(BRCA2)开始进行该过程。然而，由于手术可能导致不孕和提前绝经，许多女性选择推迟。

创新过程

亚当·罗森塔尔博士(伦敦大学学院EGA女性健康研究所和伦敦大学lh的妇科顾问医生)领导了试点的NHS研究项目，称为ALDO(避免卵巢癌的晚期诊断)。ALDO使用一种被称为卵巢癌风险算法(ROCA)的特别设计的算法来评估接受监测的767名女性的常规血液结果。

参与者平均年龄40岁，通过基因中心或家族癌症诊所从英格兰和威尔士招募。在2019年10月至2020年11月的研究期间，他们每四个月接受一次ROCA测试。根据每次ROCA测试结果，可能需要进一步的测试和临床评估。

在767名参与者中，有8人因疑似癌症接受了手术，其中6人确诊为卵巢癌/输卵管癌，2名女性被证实为囊肿或子宫内膜异位症。一半的女性在骨盆外出现明显肿瘤之前就被检测出了癌症，除了一人外，所有女性都在手术中完全切除了可见肿瘤。

这些结果与以前使用ROCA测试的研究试验相似，并表明该测试可以更早地诊断癌症，当需要更小范围的手术来完全切除肿瘤时。

创新关键点

ALDO使用一种被称为卵巢癌风险算法(ROCA)的特别设计的算法来评估接受监测的767名女性的常规血液结果。

创新价值

新研究发现，定期监测对这些女性来说是一种短期选择，可以在疾病发展成更严重的问题之前，在早期阶段就发现相关发展。

这项新研究还包括了伦敦经济学院专家的经济模型，他们发现，监测将使每位卵巢癌患者享受高质量生活的时间延长约两个月。与没有监测相比，每个女性还将节省约10万英镑的治疗费用，主要是因为减少了昂贵的癌症治疗。

Innovative finding that regular BRCA testing can help diagnose cancer earlier

Dr Adam Rosenthal (consultant gynaecologist at University College London's EGA Institute of Women's Health and University College London lh) led the pilot NHS research project, called ALDO(Avoiding Late Diagnosis of Ovarian Cancer). ALDO used a specially designed algorithm called the Ovarian Cancer Risk Algorithm (ROCA) to assess routine blood results from 767 women who were monitored.

Participants, with an average age of 40, were recruited from England and Wales through gene centres or family-owned cancer clinics. They were tested for ROCA every four months during the study period from October 2019 to November 2020. Depending on the results of each ROCA test, further testing and clinical evaluation may be required.

Of the 767 participants, eight underwent surgery for suspected cancer, with six diagnosed with ovarian/fallopian tube cancer and two women confirmed to have cysts or endometriosis. Half of the women had their cancer detected before a visible tumor appeared outside the pelvis, and all but one had the visible tumor completely removed during surgery.

These results are similar to previous research trials using the ROCA test, and suggest that the test can diagnose cancer earlier, when a smaller area of surgery is needed to completely remove the tumor.