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

被引:16
|
作者
Zlotogora, Joel [1 ]
机构
[1] Hebrew Univ Jerusalem, Fac Med, Hadassah Med Sch, Jerusalem, Israel
关键词
Carrier screening; Population screening; Jews; Arabs; DISEASE; VARIANTS; MUTATION;
D O I
10.1186/s13584-019-0345-1
中图分类号
R19 [保健组织与事业(卫生事业管理)];
学科分类号
摘要
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.
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页数:5
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