Overview
Genetic carrier screening in Jewish founder populations has historically been driven by the prevention of severe autosomal recessive disorders, most famously Tay-Sachs disease. The GENESCREEN source material frames this history through Dor Yeshorim, JScreen, Tay-Sachs disease, cystic fibrosis, familial dysautonomia, Canavan disease, and the newer debate over genetic hearing-loss screening. It also states the central genetic fact behind premarital or preconception screening: when both prospective parents carry pathogenic variants in the same autosomal recessive condition, each pregnancy carries a 1-in-4 risk of an affected child.
