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全球肿瘤学领域采用下一代测序(NGS)的框架。

Framework for Adoption of Next-Generation Sequencing (NGS) Globally in the Oncology Area.

作者信息

Horgan Denis, Hamdi Yosr, Lal Jonathan A, Nyawira Teresia, Meyer Salomé, Kondji Dominique, Francisco Ngiambudulu M, De Guzman Roselle, Paul Anupriya, Bernard Branka, Reddy Nallamalla Krishna, Park Woong-Yang, Triapthi Vijay, Tripathi Ravikant, Johns Amber, Singh Mohan P, Phipps Maude E, Dube France, Rasheed Hadi Mohamad Abu, Kozaric Marta, Pinto Joseph A, Doral Stefani Stephen, Aponte Rueda Maria Eugenia, Fujita Alarcon Ricardo, Barrera-Saldana Hugo A

机构信息

European Alliance for Personalised Medicine, 1040 Brussels, Belgium.

Department of Molecular and Cellular Engineering, Jacob Institute of Biotechnology and Bioengineering, Sam Higginbottom University of Agriculture, Technology and Sciences, Prayagraj 211007, India.

出版信息

Healthcare (Basel). 2023 Feb 2;11(3):431. doi: 10.3390/healthcare11030431.

Abstract

Radical new possibilities of improved treatment of cancer are on offer from an advanced medical technology already demonstrating its significance: next-generation sequencing (NGS). This refined testing provides unprecedentedly precise diagnoses and permits the use of focused and highly personalized treatments. However, across regions globally, many cancer patients will continue to be denied the benefits of NGS as long as some of the yawning gaps in its implementation remain unattended. The challenges at the regional and national levels are linked because putting the solutions into effect is highly dependent on cooperation between regional- and national-level cooperation, which could be hindered by shortfalls in interpretation or understanding. The aim of the paper was to define and explore the necessary conditions for NGS and make recommendations for effective implementation based on extensive exchanges with policy makers and stakeholders. As a result, the European Alliance for Personalised Medicine (EAPM) developed a maturity framework structured around demand-side and supply-side issues to enable interested stakeholders in different countries to self-evaluate according to a common matrix. A questionnaire was designed to identify the current status of NGS implementation, and it was submitted to different experts in different institutions globally. This revealed significant variability in the different aspects of NGS uptake. Within different regions globally, to ensure those conditions are right, this can be improved by linking efforts made at the national level, where patients have needs and where care is delivered, and at the global level, where major policy initiatives in the health field are underway or in preparation, many of which offer direct or indirect pathways for building those conditions. In addition, in a period when consensus is still incomplete and catching up is needed at a political level to ensure rational allocation of resources-even within individual countries-to enable the best ways to make the necessary provisions for NGS, a key recommendation is to examine where closer links between national and regional actions could complement, support, and mutually reinforce efforts to improve the situation for patients.

摘要

一种先进的医疗技术已经彰显出其重要性,它为癌症治疗带来了全新的可能性:下一代测序(NGS)。这种精细的检测提供了前所未有的精确诊断,并允许使用针对性强且高度个性化的治疗方法。然而,在全球各个地区,只要NGS实施过程中存在的一些巨大差距仍未得到解决,许多癌症患者将继续无法受益于NGS。地区和国家层面的挑战相互关联,因为解决方案的实施高度依赖于地区和国家层面的合作,而这种合作可能会因解释或理解不足而受到阻碍。本文的目的是确定和探索NGS所需的条件,并在与政策制定者和利益相关者广泛交流的基础上,为有效实施提出建议。因此,欧洲个性化医疗联盟(EAPM)制定了一个围绕需求侧和供给侧问题构建的成熟度框架,以使不同国家的相关利益者能够根据共同的矩阵进行自我评估。设计了一份问卷来确定NGS实施的现状,并将其提交给全球不同机构的不同专家。这揭示了NGS采用不同方面的显著差异。在全球不同地区,为确保条件合适,可以通过将国家层面(患者有需求且提供护理的地方)和全球层面(卫生领域正在或正在筹备重大政策举措的地方,其中许多举措为建立这些条件提供了直接或间接途径)所做的努力联系起来加以改善。此外,在共识仍不完整且需要在政治层面迎头赶上以确保合理分配资源(即使在个别国家内)从而以最佳方式为NGS做出必要安排的时期,一项关键建议是审视国家和地区行动之间更紧密的联系在哪些方面可以补充、支持并相互加强改善患者状况的努力。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6641/9914369/eab854ce8b61/healthcare-11-00431-g001.jpg

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