Genetic Disorders and Consanguinity in the Saudi Population

Abstract

Saudi Arabia has one of the highest rates of consanguineous marriages in the world, which is strongly embedded in culture and has significant implications on the health of people. The practice has a great impact on increasing the prevalence of autosomal recessive genetic diseases, which place a significant burden on the national healthcare system and the economy. This study carries out a synthesis of recent evidence to understand the complex association between consanguinity and the genetic disease situation in Saudi Arabia. It focuses on which particular genetic illnesses this practice enhances, studies the current state of popular knowledge and feelings, and determines the efficiency of the existing preventive strategies, including the national premarital screening program. In addition, the socio-cultural mechanisms that promote consanguinity and the multi-faceted measures that can be taken to reduce the related health risks are critically discussed and proposed in the paper. The results highlight the need to have a national initiative where cultural sensitivity is taken into consideration and encourages genetic literacy and promotes knowledge about reproductive choices.