Public Awareness of Genetic Diseases, Preventive Screening, and Genetic Healthcare Services in the Qassim Region, Saudi Arabia: A Cross-Sectional Study

Background: Genetic diseases pose a significant public health issue in Saudi Arabia, driven by relatively high prevalence and factors such as consanguineous marriage. Increasing public awareness and understanding are crucial to improving prevention, early detection, and the use of genetic healthcare services. This study aimed to evaluate residents’ knowledge, attitudes, and awareness of genetic diseases in the Qassim region. Methods: A web-based cross-sectional survey was conducted from March to May 2024 among Qassim residents, using an online questionnaire shared via multiple social media platforms. The survey assessed knowledge of genetic diseases, awareness of preventive measures and screening programs, and familiarity with genetic healthcare services. Descriptive statistics summarised the results, and binary logistic regression was conducted to identify factors independently associated with good awareness of genetic testing. Results: Of the 398 participants, about 66% knew about common genetic diseases in Saudi Arabia, while 92% recognised consanguineous marriage as a key cause of genetic disorders. Most respondents correctly identified that genetic diseases are not transmitted through infection (93%). Support for expanding premarital, prenatal, and newborn screening programs was high at 93%, 88.9%, and 90.7%, respectively. Nonetheless, only 38.7% were aware of specialised genetic laboratories and counselling services, and just 4.4% had consulted a genetic counsellor. Social media was the primary source of genetic information (36%). Despite limited awareness of available services, 94% supported establishing a regional genetic testing lab, and 71% were willing to participate in future genetic research. Multivariate analysis identified that marital status is the only variable significantly associated with genetics testing awareness status [aOR = 2.34; 95% CI (1.08–5.08); p = 0.030]. Conclusions: Participants demonstrated generally good knowledge of genetic diseases and positive attitudes towards preventive genetic screening programmes. However, awareness of and utilisation of specialised genetic healthcare services, including genetic counselling and genetic testing laboratories, remained limited. These findings underscore the need to enhance public education, expand genetic counselling, and improve access to specialised services to advance genomic medicine in Saudi Arabia. However, the predominance of younger participants and students may limit the generalisability of the findings to the broader Qassim population.