Computational platform expands genetic screening scope in high-consanguinity Gulf populations

BackgroundSaudi Arabia bears a disproportionate burden of autosomal recessive genetic disorders, driven by consanguineous marriage rates of 50-58% and elevated carrier frequencies for conditions such as sickle cell disease (carrier rate up to 25%), betathalassemia (12%), and spinal muscular atrophy (6%). The existing premarital screening program screens for only two conditions. We developed SafeGene, a computational platform that expands predictive genetic screening to 50+ conditions using regionspecific population genetics. MethodsSafeGene integrates five risk calculation engines: (1) Mendelian inheritance models for AR, AD, XR, and XD conditions; (2) HardyWeinberg equilibriumbased carrier probability estimation using Saudi, Gulf, and global databases; (3) a sixlevel consanguinity coefficient calculator (F = 0 to 1/8) with risk amplification multipliers; (4) multifactorial polygenic risk models for 12 complex diseases; and (5) maternal agedependent trisomy risk curves. Built using React.js, Node.js/Express, and MongoDB with bilingual Arabic/English support. ResultsThe platform encompasses 50 genetic conditions across 12 categories. Validation against published Saudi data demonstrated concordance with observed disease frequencies. Economic modeling projects that expanding screening could prevent 2,800-4,200 affected births annually, yielding savings of SAR 1.2-2.8 billion ($320-746 million USD) per year. ConclusionsSafeGene represents a scalable, evidencebased digital health solution for comprehensive genetic screening addressing the unique population genetics of consanguineous Gulf societies. The platform is protected under pending patent applications in South Africa (CIPC) and Saudi Arabia (SAIP).