一种主动的遗传预防模式─遗传病高危家庭监护

HIGH-RISK FAMILY SURVEILLANCE-A MODEL FOR POSITIVE GENETIC PREVENTION

目前遗传病尚无根治方法，采取预防措施阻断致病基因传递是降低遗传病发病率的有效途径。为此，作者提出了一种新的主动的遗传预防模式－遗传病高危家庭监护，内容包括高危家庭和高危家庭监护的概念，高危家庭的筛选和处理原则以及一种适合我国国情的实施方案，并在山东省进行了初步实践，从遗传病调查资料中筛选出遗传病高危家庭８９３个，通过遗传分析和风险估计，对有关成员提出了婚育指导意见。

As no eradicative treatments are available for most of the genetic diseases, the most effective measure to reduce the incidence of genetic diseases is to blockade the transmission of the detrimental genes in the families. The authors proposed a new, positive model for genetic prevention, the high-risk family surveillance, which include the concepts of high -risk families and high-risk family surveillance, screening and processing protocol and a comprehensive working system based on the actual conditions of our country. Preliminary implemention was conducted in Shandong Province, 893 high-risk families were ascertained, processed and offered adequate guidance for their marriage and conception. The feasibility and efficiency of this model were also discussed in this assay.