Assessing Public Awareness of Newborn Screening and Genetic Disorders in Saudi Arabia: A Cross-sectional Study

Abstract Background: Newborn screening (NBS) programmes play a vital role in the early detection and management of genetic disorders, improving health outcomes and reducing infant morbidity and mortality. Despite the existence of an established NBS programme in Saudi Arabia, there is limited information on public awareness and perceptions regarding these services. Objective: This study aimed to assess the awareness and knowledge of Saudi citizens regarding NBS and genetic disorders, examine socio-demographic factors influencing awareness levels and provide insights to inform targeted educational interventions. Methodology: A cross-sectional survey was conducted between September and December 2024 using an online questionnaire distributed across Saudi Arabia. The study included 413 participants, with medical students and healthcare professionals excluded to ensure representation of the general population. Data were analysed using descriptive and inferential statistics, with awareness levels assessed based on socio-demographic characteristics. Results: Majority of the participants (73.6%) were female, and more than half (53.8%) were younger than 25 years old. Awareness of NBS was relatively high, with 75.1% recognising its role in detecting genetic diseases and 99.5% acknowledging its importance in Saudi Arabia. However, gaps in knowledge were identified, particularly regarding region-specific genetic disorders (56.9% unaware) and the financial burden of genetic diseases on families and the healthcare system (34.9% and 36.6% unaware, respectively). Higher awareness scores were significantly associated with age, education level and marital status ( P < 0.001). Conclusion: While public awareness of the importance of NBS is generally high, gaps remain in understanding the scope and financial implications of genetic disorders. Targeted public health campaigns and educational initiatives are needed to address these gaps and enhance participation in screening programmes, ultimately improving health outcomes in Saudi Arabia.