Behind the screen: An overview of premarital genetic testing in the Jewish community

Abstract

__Genetic screening is a process in which specific genes are searched for within a particular population. Usually, a proband instigates the test, seeking the details of a genetic condition. Carrier screening facilitates the identification of heterozygotes and carriers for certain serious homozygous recessive diseases. Population screening is mainly directed at a population with a known risk for a certain disease to gain insight into the prevalence of the disease in that population and to provide genetic counseling and intervention when necessary. __Genetic screening is a powerful tool that can be used to prevent much heartache and challenging scenarios that may arise from the marriage of two carriers of the same recessive gene. Marriage is an integral part of the Jewish life cycle. Marriage and procreation are among the most important and essential aspects of Judaism. The Sefer HaChinuch, a book enumerating the 613 mitzvos, lists the mitzvah of having children as the first commandment.1 The author of the Sefer HaChinuch explains that the commandment to have children is what underlies the entire system of the commandments, as without humans, there would be no one to fulfill the commandments.2 Therefore, having healthy children that are able to perform G-d’s commandments is undoubtedly one of the most important and essential values of Judaism.