Abstract
Consanguineous marriage is common in Saudi Arabia. It is responsible for high prevalence of genetic disorders in the Saudi population. Thus, the aim of this study is to assess the level of awareness around the genetic diseases resulting from consanguinity in Saudi Arabia. A randomised cross-sectional study was conducted among the Saudi society. A questionnaire was designed for demographics, the history of genetic diseases, awareness of genetic diseases and premarital screening. These were distributed through social media (Facebook, Twitter and WhatsApp), targeting different education levels and specialties, from different regions of the country. The data was analysed using the Statistical Package for Social Sciences (SPSS) and p-value calculated using a chi-square test. The majority of the participants were female, (83.4%), versus (16.6%) males. The participants were from different Saudi regions: the western (66.5%), middle (11.5%), southern (8.9%), eastern (7.8%) and northern (5.3%) regions. 86% of the participants were undergraduates, 20.5% were educated to high-school level and 11.1% were postgraduate level. 28% were from a medical field while 72% were non-medical. The most common genetic diseases in the Saudi population are Down syndrome, sickle cell anemia, glucose-6-phosphate dehydrogenase (G6PD) deficiency and thalassemia. Participants with a medical education and those with higher educational levels demonstrate significantly higher levels of awareness about the connection between consanguinity and the resultant genetic diseases. Most of the participants believe that culture and tradition play the most important roles in the spread of the genetic diseases due to consanguinity, followed by a lack of awareness about their association. Public awareness of the association between consanguinity and the development of genetic diseases is relatively low. culture and tradition were reported to be most associated factor in the spread of consanguinity and thus genetic diseases.