Horgan Denis, Ciliberto Gennaro, Conte Pierfranco, Curigliano Giuseppe, Seijo Luis, Montuenga Luis M, Garassino Marina, Penault-Llorca Frederique, Galli Fabrizia, Ray-Coquard Isabelle, Querleu Denis, Riegman Peter, Kerr Keith, Van Poppel Hein, Bjartell Anders, Codacci-Pisanelli Giovanni, Koeva-Balabanova Jasmina, Paradiso Angelo, Maravic Zorana, Fotaki Vassiliki, Malats Nuria, Bernini Chiara, Buglioni Simonetta, Kent Alastair, Munzone Elisabetta, Belina Ivica, Van Meerbeeck Jan, Duffy Michael, Jagielska Beata, Capoluongo Ettore
European Alliance for Personalized Medicine, Avenue de l'Armee/ Legerlaan 10, 1040 Brussels, Belgium.
IRCCS Istituto Nazionale Tumori "Regina Elena", Via Elio Chianesi, 53, 00128 Rome, Italy.
Cancers (Basel). 2021 Feb 2;13(3):583. doi: 10.3390/cancers13030583.
Rapid and continuing advances in biomarker testing are not being matched by uptake in health systems, and this is hampering both patient care and innovation. It also risks costing health systems the opportunity to make their services more efficient and, over time, more economical. The potential that genomics has brought to biomarker testing in diagnosis, prediction and research is being realised, pre-eminently in many cancers, but also in an ever-wider range of conditions-notably testing in ovarian, breast, pancreatic and prostate cancers. Nevertheless, the implementation of genetic testing in clinical routine setting is still challenging. Development is impeded by country-related heterogeneity, data deficiencies, and lack of policy alignment on standards, approval-and the role of real-world evidence in the process-and reimbursement. The acute nature of the problem is compellingly illustrated by the particular challenges facing the development and use of tumour agnostic therapies, where the gaps in preparedness for taking advantage of this innovative approach to cancer therapy are sharply exposed. Europe should already have in place a guarantee of universal access to a minimum suite of biomarker tests and should be planning for an optimum testing scenario with a wider range of biomarker tests integrated into a more sophisticated health system articulated around personalised medicine. Improving healthcare and winning advantages for Europe's industrial competitiveness and innovation require an appropriate policy framework-starting with an update to outdated recommendations. We show herein the main issues and proposals that emerged during the previous advisory boards organised by the European Alliance for Personalized Medicine which mainly focus on possible scenarios of harmonisation of both oncogenetic testing and management of cancer patients.
生物标志物检测领域快速且持续的进展并未在卫生系统的应用中得到匹配，这既阻碍了患者护理，也抑制了创新。这还可能使卫生系统失去提高服务效率并随着时间推移降低成本的机会。基因组学在诊断、预测和研究中的生物标志物检测方面所带来的潜力正在得到实现，在许多癌症中尤为突出，但也体现在越来越广泛的病症中，特别是在卵巢癌、乳腺癌、胰腺癌和前列腺癌的检测中。然而，在临床常规环境中实施基因检测仍然具有挑战性。国家相关的异质性、数据缺陷以及在标准、审批以及真实世界证据在这一过程中的作用和报销方面缺乏政策一致性，阻碍了其发展。肿瘤agnostic疗法的开发和使用所面临的特殊挑战有力地说明了问题的紧迫性，利用这种创新癌症治疗方法的准备工作中的差距被尖锐地暴露出来。欧洲应该已经确保普遍能够获得至少一套生物标志物检测，并应规划一个最佳检测方案，将更广泛的生物标志物检测整合到围绕个性化医疗构建的更复杂的卫生系统中。改善医疗保健并为欧洲的产业竞争力和创新赢得优势需要一个适当的政策框架——首先要更新过时的建议。我们在此展示了欧洲个性化医疗联盟组织的前几次咨询委员会期间出现的主要问题和提议，这些问题和提议主要关注肿瘤基因检测和癌症患者管理的协调可能出现的情况。
