Genetic Testing in Israel: An Overview

被引:42
作者
Rosner, Guy [1 ]
Rosner, Serena [1 ]
Orr-Urtreger, Avi [1 ,2 ]
机构
[1] Tel Aviv Univ, Tel Aviv Sourasky Med Ctr, Genet Inst, IL-69978 Tel Aviv, Israel
[2] Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel
关键词
Jewish and non-Jewish populations; founder mutation; carrier screening; genetic laboratory testing services; prenatal diagnosis; ASHKENAZI-JEWISH POPULATION; TAY-SACHS-DISEASE; AUTOSOMAL RECESSIVE DISEASES; SPINAL MUSCULAR-ATROPHY; MULTIPLEX NESTED PCR; PRENATAL-DIAGNOSIS; GAUCHER-DISEASE; COLORECTAL-CANCER; PALESTINIAN ARABS; FOUNDER MUTATIONS;
D O I
10.1146/annurev.genom.030308.111406
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
In Israel, genetic screening and testing are widespread and are on the rise. The socialized medical system, the governmental National Program for the Detection and Prevention of Birth Defects, the central registry of genetic disorders, and the availability of medical genetic units influence the extensive utilization of genetic services. Israeli society is a complex one-ethnically, religiously, and culturally diverse, comprised of Jews of many ethnic backgrounds, as well as Christian and Moslem Arabs, Druze, and Bedouins. Multiple founder mutations have been documented in these various ethnic populations, often clown to the level of specific villages or tribes. Although carrier screening and prenatal diagnostic testing are well established in the general population, the rejection of pregnancy termination by many religious communities often prevents participation in testing. Culturally appropriate genetic programs have been initiated in religious Jewish and non-Jewish communities in an attempt to overcome cultural barriers and reduce the frequency of severe genetic diseases nationwide.
引用
收藏
页码:175 / 192
页数:18
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