西班牙精准医疗发展现状及纳瓦拉1000基因组计划(NAGEN1000)

Development Status of Precision Medicine in Spain and Navarra 1000 Genomes Project(NAGEN1000)

“纳瓦拉1000基因组计划”(NAGEN1000)是西班牙的一项将最新的全基因组测序技术应用于临床实践的区域试点研究,主要针对罕见病患者及其家属,通过分析全基因组数据,提供罕见病的诊断和治疗方案,并解决精准预防和药物治疗方面的问题。NAGEN1000项目招募了1000名罕见病患者及其亲属,分析其全基因组数据,取得了一些重要的成果,包括发现与可预防的严重疾病相关的遗传变异,确定药物基因组学变异等,以及发现一些有力的候选基因组,为未来新的诊断和合作研究项目做好铺垫。NAGEN1000项目展示了基因组学和精准医疗领域的转化研究和创新如何为真实患者带来利好,并被国际精准医疗联盟(ICPerMed)评为“个性化医疗最佳实践”;催生了纳瓦拉生物医学研究中心的新基因组医学部门和NAGEN战略,为精准医疗的研发项目提供了支持,并成为西班牙参议院国家基因组学和精准医疗战略倡议的典范实践。本研究在梳理简介西班牙精准医疗整体情况的基础上,重点介绍NAGEN1000项目计划,旨在为我国相关领域专家学者更好地了解NAGEN1000项目提供参考。

"NAGEN1000"is a regional pilot study in Spain that aims to apply the latest whole genome sequencing technology in clini-cal practice.The study primarily focuses on patients with rare diseases and their families,providing diagnosis and treatment plans for rare diseases through the analysis of whole genome data,as well as addressing issues related to personalized prevention and drug therapy.The project recruited 1000 rare disease patients and their relatives and has achieved significant results,including the identification of enetic variants associated with preventable severe diseases and the determination of pharmacogenomic variations,and the project has dis-covered some promising candidate genomes,laying the foundation for future new diagnoses and collaborative research projects.This proj-ect demonstrates how translational research and innovation in genomics and personalized medicine benefit real patients,and has been recognized as a“best practice in personalized medicine”by ICPerMed.The project has also led to the establishment of a new genomics medicine department at Navarrabiomed and the NAGEN strategy,providing support for research and development projects in personal-ized medicine,and serving as a model practice for the National Genomics and Personalized Medicine Strategy initiative in the Spanish Senate.Based on the overview of the overall situation of precision medicine in Spain,this study focus on the"NAGEN1000"project,so as to provide readers with a better understanding of the"NAGEN1000"project.