Beyond Carrier Frequency
A Consequence-Weighted and Interaction-Aware Framework for Genetic Screening in Jewish Founder Populations
From the essay
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.
Adapted from PDF pages 1.