深入探讨“法国基因组医学计划2025”  

In-Depth Exploration of the Genomic Medicine France 2025

作　　者：韩洞明 熊驰 魏安宁 李建康 高雅 金鑫 HAN Dongming;XIONG Chi;WEI Anning;LI Jiankang;GAO Ya;JIN Xin(BGI Research,Guangdong Shenzhen 518083,China;School of Life Sciences,University of Chinese Academy of Sciences,Beijing 100049,China;The College of Life Sciences,Northwest University,Shaanxi Xi’an 710069,China)

机构地区：[1]深圳华大生命科学研究院,广东深圳518083 [2]中国科学院大学生命科学学院,北京100049 [3]西北大学生命科学学院,陕西西安710069

出　　处：《中国医药导刊》2024年第1期77-86,共10页Chinese Journal of Medicinal Guide

基　　金：国家重点研发计划资助项目,科技部重点研发计划“政府间国际科技创新合作”重点专项[项目编号:2021YFE0192400,项目名称:中国-欧盟国际精准医疗领域合作支持计划(IC2PerMed)]。

摘　　要：“法国基因组医学计划2025”是一项国家倡议,旨在让法国成为个性化医疗和精准医疗的领先大国之一,将基因组医学应用于罕见病和癌症,并进一步将基因组医学纳入常规医疗,建立国家基因组医学框架,促进科学创新和产业发展。该计划包括建立测序平台和数据中心,每年可为数十万患者提供高通量测序服务,实施基因组临床途径,确保基因组检测和分析的安全、质量和效率,创建创新、评估与转化咨询中心,以促进教育和培训、基因组医学的创新和转化、政策支持和社会效益,以及进行卫生经济学研究,以评估基因组医学的成本效益、预算影响和社会福利。该计划在建立测序平台和数据中心、向医院发放基因组检测和分析许可证、发布经济影响评估报告等方面取得了一些重要成果。该计划在应对新冠肺炎疫情、对云计算服务的法律限制以及基因组数据的道德和社会问题方面也面临一些挑战。该计划预计将在健康水平和生活质量、科学知识和领导力、技术突破和创新能力、经济增长和竞争力方面为法国人民带来重大利益。该计划还有望通过与其他国家在基因组医学方面的合作和竞争,提高法国的国际影响力和声誉。本研究介绍了该计划的主要目标、措施、进展和挑战,以及该计划对公共卫生、科学研究、技术创新和经济发展的潜在影响。The Genomic Medicine France 2025 is a national initiative that aims to make France one of the leading countries in person-alized and precision medicine.It focuses on applying genomic medicine to rare diseases and cancer,and further incorporating genomic medicine into routine care,establishing a national framework for genomic medicine,and promoting scientific innovation and industrial development.The plan includes establishing sequencing platforms and data centers that can provide high-throughput sequencing services to hundreds of thousands of patients annually,implementing genomic clinical approaches to ensure the safety,quality,and efficiency of genomic testing and analysis,and creating an innovation,evaluation,and transformation consulting center to promote education and training,innovation and transformation of genomic medicine,policy support and social benefits.It also involves conducting researches in health economics to evaluate the cost effectiveness,budget impact,and social welfare of genomic medicine.The plan has achieved some important results in establishing sequencing platforms and data centers,granting genome testing and analysis licenses to hospitals,and releasing economic impact assessment reports.The plan also faces some challenges in dealing with COVID-19,legal restrictions on cloud computing services,and moral and social problems of genome data.The plan is expected to bring significant benefits to the French people in terms of health and quality of life,scientific knowledge and leadership,technological breakthroughs and innovative potential,economic growth and competitiveness.This article introduces the main objectives,measures,progress and challenges of the plan,as well as its potential impact on public health,scientific research,technological innovation,and economic development.

关 键 词：基因组医学 法国 个性化医疗 精准医疗 基因组学 测序 

分 类 号：R197[医药卫生—卫生事业管理] R95[医药卫生—公共卫生与预防医学]