Horgan Denis, Ciliberto Gennaro, Conte Pierfranco, Baldwin David, Seijo Luis, Montuenga Luis M, Paz-Ares Luis, Garassino Marina, Penault-Llorca Frederique, Galli Fabrizia, Ray-Coquard Isabelle, Querleu Denis, Capoluongo Ettore, Banerjee Susana, Riegman Peter, Kerr Keith, Horbach Benjamin, Büttner Reinhard, Van Poppel Hein, Bjartell Anders, Codacci-Pisanelli Giovanni, Westphalen Benedikt, Calvo Fabien, Koeva-Balabanova Jasmina, Hall Stephen, Paradiso Angelo, Kalra Dipak, Cobbaert Christa, Varea Menendez Rocio, Maravic Zorana, Fotaki Vassiliki, Bennouna Jaafar, Cauchin Estelle, Malats Nuria, Gutiérrez-Ibarluzea Iñaki, Gannon Benjamin, Mastris Ken, Bernini Chiara, Gallagher William, Buglioni Simonetta, Kent Alastair, Munzone Elisabetta, Belina Ivica, Van Meerbeeck Jan, Duffy Michael, Sarnowska Elżbieta, Jagielska Beata, Mee Sarah, Curigliano Giuseppe
European Alliance for Personalised Medicine, Brussels, Belgium.
IRCCS Istituto Nazionale Tumori "Regina Elena", Rome, Italy.
Biomed Hub. 2020 Sep 14;5(3):182-223. doi: 10.1159/000511209. eCollection 2020 Sep-Dec.
Rapid and continuing advances in biomarker testing are not being matched by take-up 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. This paper sets out the potential of biomarker testing, the unfolding precision and range of possible diagnosis and prediction, and the many obstacles to adoption. It offers case studies of biomarker testing in breast, ovarian, prostate, lung, thyroid and colon cancers, and derives specific lessons as to the potential and actual use of each of them. It also draws lessons about how to improve access and alignment, and to remedy the data deficiencies that impede development. And it suggests solutions to outstanding issues - notably including funding and the tangled web of obtaining reimbursement or equivalent coverage that Europe's fragmented health system implies. It urges a European evolution towards an initial minimum testing scenario, which would guarantee universal access to a suite of biomarker tests for the currently most common conditions, and, further into the future, to an optimum testing scenario in which a much wider range of biomarker tests would be introduced and become part of a more sophisticated health system articulated around personalised medicine. For exploiting genomics to the full, it argues the need for a new policy framework for Europe. Biomarker testing is not an issue that can be treated in isolation, since the purpose of testing is to improve health. Its use is therefore always closely linked to specific health challenges and needs to be viewed in the broader policy context in the EU and more widely. The paper is the result of extensive engagement with experts and decision makers to develop the framework, and consequently represents a wide consensus of views on how healthcare systems should respond from push and pull factors at local, national and cross-border and EU level. It contains strong views and clear recommendations springing from the convictions of patients, clinicians, academics, medicines authorities, HTA bodies, payers, the diagnostic, pharmaceutical and ICT industries, and national policy makers.
生物标志物检测领域快速且持续的进展在卫生系统中的应用并未与之匹配,这既阻碍了患者护理,也妨碍了创新。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。本文阐述了生物标志物检测的潜力、不断展现的精准度及可能的诊断和预测范围,以及采用过程中存在的诸多障碍。文中提供了乳腺癌、卵巢癌、前列腺癌、肺癌、甲状腺癌和结肠癌生物标志物检测的案例研究,并得出了关于每种检测潜在用途和实际应用的具体经验教训。还总结了如何改善获取途径和协调一致性,以及弥补阻碍发展的数据不足方面的经验教训。此外,针对悬而未决的问题提出了解决方案,特别是包括资金问题以及欧洲分散的卫生系统所带来的获取报销或同等覆盖范围的复杂难题。文章敦促欧洲朝着初步的最低检测方案发展,这将确保普遍能够获得针对当前最常见病症的一系列生物标志物检测,并且在更长远的未来,朝着最佳检测方案发展,届时将引入范围更广的生物标志物检测,并使其成为围绕个性化医疗构建的更复杂卫生系统的一部分。为了充分利用基因组学,文章认为欧洲需要一个新的政策框架。生物标志物检测并非一个可以孤立看待的问题,因为检测的目的是改善健康。因此,其使用始终与特定的健康挑战紧密相关,需要在欧盟及更广泛的政策背景下加以审视。本文是与专家和决策者广泛交流以制定该框架的成果,因此代表了各方对于医疗保健系统应如何应对地方、国家、跨境及欧盟层面的推动和拉动因素的广泛共识。文中包含了源于患者、临床医生、学者、药品监管机构、卫生技术评估机构、支付方、诊断、制药和信息通信技术行业以及国家政策制定者信念的强烈观点和明确建议。