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以色列国家生育目的的遗传携带者筛查计划。应如何继续?

The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

机构信息

Hadassah Medical School, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.

出版信息

Isr J Health Policy Res. 2019 Dec 16;8(1):73. doi: 10.1186/s13584-019-0345-1.

Abstract

The Israeli population genetic screening program for reproductive purposes, is a population-specific screening that includes all known, severe diseases and relatively frequent in a specific population (carrier frequency at or above 1:60 and/or disease frequency at or above 1 in 15,000 live births). The carrier screening program is free of charge and offers testing according to disease frequency in the different groups within the population.The extraordinary technical changes that occurred in the last decade as well as the changes in the type of marriages within the Israeli population necessitate a revision in the basis of the program.The screening should include instead of only the relatively frequent variants, all the variants that were reported among patients causing a severe disease for which the natural history is well known without regard of their frequency. The population-specific screening that determine which variants are included according to the origin of the couple should be abandoned for a general screening including either all the Jewish population or all the Israeli Arab population.

摘要

以色列生殖目的人口遗传筛查计划是一种针对特定人群的筛查,包括所有已知的严重疾病和在特定人群中相对常见的疾病(携带者频率为 1/60 或以上,或每 15000 例活产中出现疾病的频率为 1/1 或以上)。携带者筛查计划是免费的,并根据人群中不同群体的疾病频率提供检测。过去十年中发生的非凡技术变化以及以色列人口中婚姻类型的变化,都需要对该计划的基础进行修订。筛查应包括所有已知严重疾病的变体,而不仅仅是那些相对常见的变体,无论其频率如何,这些变体在导致疾病的患者中都有报道。根据夫妻的来源来确定要包括哪些变体的特定人群筛查应该被放弃,代之以包括所有犹太人口或所有以色列阿拉伯人口的一般筛查。

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