title: Prevention of lysosomal storage disorders in Israel.
abstract: Prevention programs for the detection of heterozygotes of relatively prevalent autosomal recessive diseases in various ethnic groups are available in recent years in Israel. Several lysosomal storage disorders (LSD) are included in this program. The goal of the program is the ascertainment of high risk couples before the birth of affected offspring. This is performed by a population screening program that addresses the specific needs and requirements of various population groups in Israel. The programs are supervised and designed by medical/clinical geneticists and are accompanied by genetic counseling prior to and after testing. Three types of population screening programs are in operation. The first type is offered to the general population and is directed to premarital and married couples. High risk families mostly opt for prenatal diagnosis. The second type is performed for diseases with a frequency of about 1:1000. This occurrence is common in Israel only in various Arab communities due to the high rate of consanguinity. The third type is a premarital screening performed by the Orthodox Jewish community and is operated by a nonprofit organization--"Dor Yeshorim". Two heterozygotes for a particular disease are advised not to proceed with the marriage and thus avoid the dilemma of prenatal diagnosis. Founder mutations of the relevant genes for each ethnic group are tested and the testing is tailored for each individual according to his/her ethnic background. Genetic counseling presents family planning options to high risk couples. These programs have resulted in a significant reduction in the birth of affected patients of the tested LSD a well as other recessive diseases in recent years.
authors.affiliation: Department of Human Genetics, Hadassah Hebrew University Hospital, Jerusalem 91120, Israel. Bach@hadassah.org.il
authors.forename: Gideon
authors.initials: G
authors.lastname: Bach
authors.forename: Marsha
authors.initials: M
authors.lastname: Zeigler
authors.forename: Joel
authors.initials: J
authors.lastname: Zlotogora
mesh_terms: D006580:Genetic Carrier Screening / Q000379:methods*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007557:Israel; D016464:Lysosomal Storage Diseases / Q000235:genetics / Q000517:prevention & control*