The perception of genetic diseases and premarital screening tests in the central region of Saudi Arabia.

The prevalence of consanguineous marriages (CMs) varies worldwide from one country to another. However, the Middle East stands out as a region with a notably high rate of CMs. CM is particularly widespread in Saudi Arabia, where the prevalence of autosomal recessive genetic diseases has increased. This study aims to identify the Saudi population's awareness of genetic diseases and premarital screening tests (PMSTs). It also seeks to understand couples' perceptions of genetic diseases before and after marriage and their attitudes towards PMSTs and genetic counselling (GC) in reducing the risk of CM. Through the administration of online questionnaires, this cross-sectional study surveyed 2,057 participants to assess their awareness of genetic diseases and their understanding of testing and preventive measures for inherited diseases. Descriptive analysis, nonparametric chi-square tests and logistic regressions were performed to assess the association of categorical responses. This study included 2,035 Saudi Arabian respondents. A significant correlation was found between positive family history and partner selection (p = 0.001), as well as between partnering within the same tribe (p = 0.000139), with a different tribe (p = 0.000138) and from another family (p = 0.000489). About 91.3% of participants expressed agreement regarding the need to enhance public awareness and knowledge concerning genetic disorders, while 87% agreed that increased government regulations are required to prevent the spread of genetic diseases in affected families. Despite increased awareness of genetic diseases and PMSTs, there appears to be a lack of understanding regarding the limitations of PMSTs. The persistently high rate of CM underscores the challenge of altering marriage customs. Further governmental efforts are required to promote awareness of alternative reproductive options, establish new regulations and expand screening programmes.

Awareness of Premarital Screening and Genetic Counseling among Saudis and its Association with Sociodemographic Factors: a National Study.

BACKGROUND: Premarital screening and genetic counseling (PMSGC) is compulsory in Saudi Arabia and aims to identify and decrease the prevalence of some genetic and sexually transmitted infectious diseases. However, there are little data on community awareness about PMSGC. This study assessed knowledge levels, attitudes, and behaviors associated with PMSGC in the general Saudi Arabian population and their associations with sociodemographic characteristics. METHODS: This was a cross-sectional, population-based study of 6263 participants randomly selected from all 20 health regions in Saudi Arabia, stratified according to age and fulfilling predefined selection criteria. Trained data collectors used a comprehensive pretested questionnaire to collect data. Data were collected in March and April 2019. Univariable and multivariable associations between sociodemographic characteristics and knowledge levels, attitudes, and behaviors were examined. RESULTS: While all 6263 study participants had heard about PMSGC, only 575 (9.2%) participants had satisfactory knowledge, while 3283 (52.4%) participants had fair knowledge. Predictors of high knowledge scores were university or higher education level (aOR=2.06; 95% CI: 1.80-2.36), positive medical history of PMSGC-screened disease (aOR=2.02; 95% CI: 1.51-2.69), family income ≥3000 SR/month (aOR=1.70; 95% CI: 1.50-1.93), being married/previously married (aOR=1.46; 95% CI: 1.25-1.70), female gender (aOR=1.25; 95% CI: 1.12-1.40), and age >18 years (aOR=1.25; 95% CI: 1.06-1.48). The majority of participants (5246, 83.8%) had positive attitudes towards the importance of PMSGC, the burden of screened genetic and infectious diseases on the family, and that marrying was inadvisable with incompatible results. Of the 3986 engaged or married participants, 2911 (73.0%) had undertaken premarital screening, of whom 360 (12.4%) had incompatible results; 98 (37.1%) married despite this information. CONCLUSION: Despite advances in public healthcare measures in Saudi Arabia, gaps remain in the knowledge, beliefs, and behaviors associated with PMSGC. Culturally specific community health education programs for PMSGC must be devised that emphasize the risks associated with consanguineous marriage.