Background: Genetic diseases result from gene mutations that disrupt the function of body systems, and most of them cannot be treated. Genetic diseases are a serious issue responsible for severe economic, emotional, and health impacts on patients and their families. In Saudi Arabia, consanguineous marriage is common, leading to an increased prevalence of genetic diseases. Therefore, Saudi Arabia has endeavored to reduce the frequency of genetic diseases by implementing the premarital screening program, which is mandatory and accessible for people planning to get married, and the genetic counseling program. Methods: In this study, we investigated the awareness and knowledge of genetic diseases among residents of the western region of Saudi Arabia, and we conducted a cross-sectional survey focusing on the level of awareness and knowledge of genetic diseases and available health care. Results: We found that the residents of the western region had good knowledge about genetic diseases, but 96.10% lacked the awareness of health services provided for this type of disease. Furthermore, 91.90% of them had a positive attitude toward genetic testing. Conclusion: The present study found that Saudi society had a good attitude toward genetic testing, such as prenatal and preimplantation genetic diagnosis. Many of the study participants were not aware, where to access genetic tests for their families, and most considered health services for patients with genetic diseases to be rudimentary, thus pointing out a lack of awareness and knowledge toward health services.
Keywords: Genetic diseases, awareness and knowledge, western region, Saudi Arabia, mutations, Genetic testing.
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