Genetic impact of non-consanguineous marriages in Saudi Arabia

Abstract Aim: The aim of this study was to determine the prevalence of genetic disorders in the non-consanguineous population of Saudi Arabia.Methods: We assessed all the exome sequencing requests associated with pathogenic or likely pathogenic variants at King Abdulaziz Medical City in Riyadh.Results: In total, there were 151 non-consanguineous individuals with exome sequencing requests in the population genomic database of King Abdullah International Medical Research Center. In total, 27 had disease-causing variants, and the hit rate was 27/151 (18%). The 27 people had 28 different variants. There were 14/28 (50%) de novo variants and 14/28 (50%) inherited variants in the 28 variants. The hit rate of the variants causing autosomal recessive disorders was 12/28 (42.8%), autosomal dominant disorders 13/28 (46.4%), and X-linked disorders 3/28 (10.7%).Conclusion: Non-consanguineous marriages have a lower risk of genetic disorders, and reducing consanguinity reduces the risk of genetic disorders by two to three times.