中国新生儿基因组计划:迈向遗传病治疗的崭新未来  

The China Neonatal Genome Project:towards a new future in the treatment of genetic diseases

作　　者：周文浩 ZHOU Wenhao(Guangzhou Women and Children's Medical Center,Guangzhou Medical University,Guangzhou 510620,Guangdong,China)

机构地区：[1]广州医科大学附属妇女儿童医疗中心,广东510620

出　　处：《临床儿科杂志》2024年第5期379-383,共5页Journal of Clinical Pediatrics

摘　　要：随着科技的进步,新生儿遗传疾病的筛查与诊断技术已经取得了巨大的飞跃,特别是下一代测序(NGS)技术的应用,极大地提高了临床应用的效率和准确性。然而,面对快速诊断的同时,如何提供有效的治疗手段,改善患儿的总体预后,成为了新的挑战。本文将从中国新生儿基因组计划出发,全面而深入地探讨新生儿遗传疾病筛查与治疗的现状,聚焦个体化治疗手段研发与应用的关键问题,提出面向未来的努力方向。With the advancement of science and technology,screening and diagnostic techniques for neonatal genetic diseases have made great leaps forward,especially the application of next-generation sequencing(NGS) technology,which has greatly improved the efficiency and accuracy of clinical applications.However,in the face of rapid diagnosis,it has become a new challenge to provide effective treatments to improve the overall prognosis of children.This article will start from the China Neonatal Genome Project,comprehensively and in-depth discuss the current status of newborn genetic disease screening and treatment,focus on the key issues of personalized treatment research and application,and propose efforts for future directions.

关 键 词：新生儿遗传疾病 基因筛查 全基因组测序 基因治疗 生存质量 

分 类 号：R722.1[医药卫生—儿科]