PREVENTABLE: Cancer prevention vs cancer treatment: The rare tumour risk syndromes battle

罕见肿瘤风险综合征（RTRS）是一种罕见疾病，每10000人中有5人或更少，由遗传性遗传变异引起。在RTRS中，发生各种癌症的终生风险可高达100%，患者有50%的机会将疾病传播给后代。当未被诊断或未被监测时，许多无症状的RTRS患者发展为特别侵袭性的癌症，导致过早死亡，严重影响他们及其家人的健康和福祉。如果对无症状的RTRS患者进行RTRS易感器官的密切监测，在疾病发展之前手术切除癌症易感器官，或者切除或治疗非常小的癌性或癌前病变，则可以预防RTRS中的癌症，并最大限度地提高生存率。因此，RTRS是癌症预防、早期诊断和治疗的独特和切实的背景。然而，在基因诊断和无症状RTRS患者中，风险降低策略并不总是优先考虑的，大多数医疗保健系统继续选择治疗临床表达的癌症。尽管人们知道住院治疗在晚期癌症医疗保健支出中的权重最高，但这种情况还是发生了。因此，迫切需要证明在RTRS综合征中应用预防措施的成本效益。可预防项目的目标是将RTRS护理途径的专业临床知识，RTRS患者的真实临床数据以及专业人员和患者的经验与健康经济模型和社会科学方法相结合，以估计RTRS风险降低干预措施的成本效益，并为临床团队和RTRS患者之间的沟通制定指导方针。可预防项目的结果将交付给包括政策制定者在内的各种利益相关者，以促进欧洲实施具有成本效益的RTRS以患者为中心的护理。

Rare tumour risk syndromes (RTRS) are rare diseases, affecting 5 per 10.000 people or less and caused by heritable genetic variants. In RTRS, the lifetime risk to develop various cancers can be as high as 100%, and patients have a 50% chance of transmitting the disease to their offspring. When undiagnosed or not surveilled, many asymptomatic RTRS patients develop particularly aggressive cancers, leading to premature death, severely impacting theirs and their families’ health and wellbeing. Cancers in RTRS can be prevented and survival rates maximized if asymptomatic RTRS patients are intensively surveilled for RTRS-prone organs, cancer-prone organs are surgically removed prior to disease development, or very small cancerous or pre-cancerous lesions are removed or treated. RTRS are therefore a unique and tangible context for cancer prevention, early diagnosis and treatment with curative intent. However, risk-reduction strategies are not always prioritized in genetically diagnosed and asymptomatic RTRS patients, and most healthcare systems keep on opting for treatment of clinically expressed cancer. This occurs despite the knowledge that hospitalization has the highest weight on advanced cancer healthcare spending. It is therefore urgent to demonstrate the cost-benefit of the application of preventive measures in RTRS syndromes. The ambition of the PREVENTABLE project is to merge specialized clinical knowledge on RTRS pathways of care, reallife clinical data from RTRS patients and experiences from professionals and patients, with health economic models and social sciences approaches to estimate the cost-benefit of risk-reduction interventions in RTRS and delineate guidelines for its communication among and within clinical teams and RTRS patients. PREVENTABLE project results will be delivered to a diversity of stakeholders, including policy-makers, in order to promote the implementation of cost-effective RTRS patient-centered care in Europe.