A targeted population carrier screening program for severe and frequent genetic diseases in Israel
A targeted population carrier screening program for severe and frequent genetic diseases in Israel
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DOI：
10.1038/ejhg.2008.241
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发表时间：
2009-05-01
影响因子：
5.2
通讯作者：
Shalev, Stavit A.
中科院分区：
文献类型：
--
作者：
Zlotogora, Joel;Carmi, Rivka;Shalev, Stavit A.
自2002年以来，以色列一直在实施一项针对严重遗传病发病率高于千分之一活产婴儿的社区的国家携带者筛查方案。在高危社区，携带者筛查是自愿的，而遗传咨询和检测则是免费的。在该方案实施的头5年里，进行了13 000多次检测，到2007年底，在35个不同的地方/社区提供了总共36种疾病的检测。许多被确定为有风险的夫妇选择了产前诊断，在两个案例中，受影响的怀孕被终止。在某些情况下，夫妇拒绝产前诊断，其中两个家庭生下了一个受影响的孩子。根据从这一有针对性的筛查计划中获得的经验，在社区内开展的以知识为基础的自愿筛查计划似乎是提供遗传服务和检测转介的有效途径。针对处于生育期的夫妇的社区方案似乎没有导致个人或社区一级的污名化。
A national carrier screening program targeted at communities in which severe genetic diseases are present with a frequency higher than 1/1000 live births, has been in existence in Israel since 2002. Within the communities at risk, carrier screening is voluntary whereas genetic counseling and testing is provided free of charge. During the first 5 years of the program more than 13 000 tests were performed, and at the end of 2007 it was offered in 35 different localities/communities for a total of 36 diseases. Many of the couples identified to be at risk opted for prenatal diagnosis and in two cases an affected pregnancy was terminated. In some cases the couples declined prenatal diagnosis and two of those families gave birth to an affected child. Based on the experience learnt from this targeted screening program it appears that a knowledge-based, voluntary screening program operated within the community is an effective way to provide genetic services and test referrals. The community program directed toward couples in their reproductive period does not seem to have led to stigmatization at either the individual or the community level.