Premarital genomic screening in Arab populations of the Middle East

Abstract

Premarital genomic screening can help curb the burden of rare reces sive disorders in populations with high rates of consanguineous mar riages. Arab populations of the Middle East have a unique genetic blend characterized by founder mutations due to historical bottlenecks, and diverse allelic series shaped by a long history of migrations and intermixing. The risk of homozygous pathogenic variants, which can lead to reces sive genetic disorders, is elevated because of the high prevalence of consanguineous mar riages, particularly unions between first cous ins, culturally rooted in this region1 . As a result, the cumulative incidence of rare recessive dis orders is expected to be higher in Arab popu lations compared to others, often leading to chronic, severe and life-limiting conditions, such as hemoglobinopathies, spinal muscular atrophy, congenital malformations and meta bolic disorders2 . This places an immense emo tional and financial strain on affected families and healthcare systems across the region.