中国新生儿基因组计划:罕见病基因型与表型队列研究的新进展  

The China Neonatal Genomes Project(CNGP):New Advances in the Cohort Study of Genotype and Phenotype of Rare Diseases

作　　者：董欣然 周文浩 DONG Xinran;ZHOU Wenhao(Center for Molecule Medicine,Children′s Hospital of Fudan University,Shanghai 201102,China;Guangzhou Women and Children′s Medical Center,Guangzhou Medical University,Guangzhou 510623,China)

机构地区：[1]复旦大学附属儿科医院分子医学中心,上海201102 [2]广州医科大学附属妇女儿童医疗中心,广州510623

出　　处：《罕见病研究》2024年第3期280-287,共8页Journal of Rare Diseases

基　　金：上海市科学技术重大项目(20Z11900600);上海市科技创新行动计划(22DZ2204800)。

摘　　要：罕见病作为全球公共卫生关注的重点,对儿童群体尤其是新生儿群体产生了巨大影响。近年来迅速发展的二代测序技术为罕见病的早期发现和精准治疗提供了更可行更全面的手段。当前,世界各地开展了诸多新生儿基因组计划,旨在探索基因测序技术在遗传性罕见病诊断中的价值和优势。在中国,中国遗传学会遗传咨询分会联合复旦大学附属儿科医院推出了10万例目标的中国新生儿基因组计划(CNGP)。该计划综合持续收集的大规模基因组数据和详细表型信息,对新生儿罕见病进行深入的基因型-表型相关性研究,为早期揭示罕见病遗传病因和实现精准治疗提供依据,同时也为药物基因组学、成人发病疾病提供预测。本文将基于CNGP已发表的多项新生儿罕见病基因型-表型队列研究,对基因型-表型采集流程和既往队列研究进展进行概述,并对当前新生儿罕见病研究的不足进行总结,从而为今后研究方向提供参考。Rare diseases occupy a critical position in global public health concern,profoundly influencing pediatric demographics,particularly in neonates.The rapid development of next-generation sequencing technologies in recent years has significantly enhanced the capacity for early detection and targeted treatment strategies for rare diseases.Globally,neonatal genome projects are being implemented with the primary goal of demonstrating the efficacy and benefits of gene sequencing technology in diagnosing genetic rare diseases.Specifically in China,the Genetic Counseling Branch of the Chinese Genetics Society,in partnership with the Children′s Hospital of Fudan University,launched the China Neonatal Genomes Project(CNGP).This project,including 100000 cases and integrating extensive genomic data with detailed phenotypic information,aims to facilitate a thorough investigation of genotype-phenotype correlations in rare neonatal diseases.These initiatives will not only open new pathways for the early identification of genetic factors in rare diseases but also are instrumental in the advancement of precision medicine.Moreover,they may also contribute to the fields of pharmacogenomics and the understanding of adult-onset diseases.Based on various genotype-phenotype cohort studies undertaken by the CNGP,we review the data collection process related to genotype-phenotype in neonatal rare diseases and outline the advancements in previous cohort studies.We also intend to assess the present challenges on neonatal rare diseases,and propose insightful recommendations for future studies.

关 键 词：罕见病 中国新生儿基因组计划 基因型-表型 队列研究 

分 类 号：R722.11[医药卫生—儿科] R725.96[医药卫生—临床医学]