基于三级预防视角的遗传病防治措施与管理策略研究

摘要

Through the analysis of the current prevention and management of genetic disease , we sort out the major genetic disease prevention and intervention measures based on the principle of tertiary prevention.The tertiary prevention existing in current genetic disease prevention systems includes the following sections.①Primary prevention: marriage guidance and birth guidance, advocating child-bearing age, preconception care, health education, genetic counseling, carrier detection.②Secondary preven -tion : prenatal diagnosis and diagnosis, neonatal screening, child care,population screening .③Tertiary prevention:environmental engineering therapy, genetic engineering therapy, restorative therapy.This article aims to put forward some suggestions on preven-tion and management of current hereditary diseases from the prospective of disease management .%通过对当前遗传病的防治与管理情况的剖析,以三级预防为框架,对主要的遗传病的预防与干预措施进行梳理.我国当前遗传病三级预防措施如下.①一级预防.婚姻指导与生育指导;提倡适龄生育;做好孕前保健;接受健康教育;进行遗传咨询;携带者的检出.②二级预防.产前检查和诊断;新生儿疾病筛查;儿童系统保健;群体普查.③三级预防.环境工程疗法;遗传工程疗法;康复疗法.从疾病管理的角度对当前遗传病的防治和管理提出建议.