开展遗传病筛查的卫生经济学考量——以唐氏综合征为例  

Health economic considerations of genetic disease screening-take Down syndrome as an example

作　　者：王楠[1] 赵立见 王顺尧[2] 姚宇 李岭[5] Wang Nan;Zhao Lijian;Wang Shunyao;Yao Yu;Li-Ling Jesse(Institute of Public Health and Social Security,School of Public Administration,Hunan University,Changsha,Hunan 410082,China;BGI Genomics Co.,Ltd.,Shenzhen,Guangdong 518083,China;Institute of Maternal and Infant Genetics and Health Industry Technology of Hebei Province,Hebei Medical University,Shijiazhuang BGI Clinical Laboratory Co.,Ltd.,Shijiazhuang,Hebei 050011,China;Economic Research Unit,Institute of Ethnology and Anthropology,World Social Security Research Center,Chinese Academy of Social Sciences,School of Economics,University of Chinese Academy of Social Sciences,Behavioral Economics Laboratory,Beijing 100732,China;Department of Medical Genetics,West China Second University Hospital,Sichuan University,Chengdu,Sichuan 610041,China)

机构地区：[1]湖南大学公共管理学院公共健康与社会保障研究所,长沙410082 [2]深圳华大基因股份有限公司,广东518083 [3]河北省母婴基因与健康产业技术研究院河北医科大学石家庄华大医学检验实验室有限公司,石家庄050011 [4]中国社会科学院大学经济学院民族学与人类学研究所经济研究室行为经济学实验室世界社会保障研究中心,北京100732 [5]四川大学华西第二医院医学遗传科,成都610041

出　　处：《中华医学遗传学杂志》2022年第10期1053-1057,共5页Chinese Journal of Medical Genetics

摘　　要：高通量测序技术的不断发展以及测序成本的不断下降,使开展大规模的遗传病筛查成为可能。遗传病是出生缺陷的主要组成部分,开展对遗传病的筛查有望显著降低出生缺陷率,减轻遗传病对家庭和社会所造成的负担。本文以唐氏综合征为例,通过对相关的筛查项目的成本效益比等进行分析,对规划和开展遗传病筛查所需考虑和测算的社会经济学指标进行了探讨和总结。The ongoing development of high-throughput sequencing technology and continuous decline of sequencing cost have made it possible to carry out large-scale screening for genetic diseases,which are the main component of birth defects.The screening of genetic diseases is expected to significantly reduce the rate of birth defects and the burden of genetic diseases to the affected families and the society.Taking Down syndrome as an example,through the analysis of the cost-benefit ratio of relevant screening programs,this article has summarized the socio-economic indicators to be considered during the design and development of genetic disease screening.

关 键 词：遗传病 筛查 卫生经济学 高通量测序 

分 类 号：R596[医药卫生—内科学]