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

Abstract

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.

Keywords: Genetic diseases; Genetics screening; Premarital screening; Saudi Arabia.

Fig. 1

Distribution of participants’ ages comparing males and females

Fig. 2

Partner kinship with/without a positive family history. A Participants with a history of genetic diseases were less likely to marry a partner from the same tribe compared to those without a history of genetic diseases (9.64% vs. 13.7%, respectively; p-value = 0.000139). B Participants with a positive family history declared that they married partners from different tribes compared to those with no family history of genetic diseases (15% vs. 19.5%, respectively; p-value = 0.000138). C Among participants with a positive family history, only 11% were married to partners from a different family compared to those with no family history of genetic diseases (15.4% with p-value = 0.000489)

Fig. 3

Participants decided to call off the marriage if they knew there was a 50% chance of passing on the genetic disease. This reveals that 47.8% of the participants with a positive family history were willing to call off a marriage, with a significance level of p = 0.0299