Community awareness of genetic disorders associated with consanguineous marriage and acceptance of preventive screening, a cross-sectional study from Saudi Arabia.

BACKGROUND

This study assessed community awareness, knowledge, and attitudes toward genetic disorders associated with consanguineous marriage and evaluated acceptance of premarital/genetic screening among adults in Al-Baha, Saudi Arabia.

METHODS

A descriptive cross-sectional study was conducted in late 2025 (October-November) among adults (≥18 years) residing in Al-Baha using a structured, self-administered electronic questionnaire distributed through social media, university channels, and community networks.

RESULTS

A total of 673 complete responses were analysed (mean age 32.67 ± 13.12 years; 50.4% female; 49.8% married). Consanguinity was common (tribal endogamy 42.5%; extended-family endogamy 40.0%), with 20.5% reporting first-cousin and 12.9% second-cousin marriage; parental and grandparental consanguinity were reported by 70.7% and 70.6%, respectively. Familial genetic/health burden was notable, particularly hereditary visual impairment (34.8%), thalassemia/hereditary anemia (25.7%), and hearing impairment/delayed speech (20.5%). Knowledge was generally good (84.4% recognized increased autosomal recessive risk; 89.3% endorsed genetic counselling benefits), but gaps persisted (33.1% did not know premarital screening includes SCD/thalassemia; only 42.1% correctly rejected the absence of a sensory-disorder link). Attitudes strongly supported prevention (premarital screening mandatory 93.9%), although within-family/tribe marriage remained widely endorsed (80.4%). Higher knowledge was associated with more favourable attitudes (OR = 2.25, p < 0.001); consanguinity with higher familial burden (OR = 2.45, p < 0.001); and familial burden with higher knowledge (OR = 1.65, p = 0.003) and more favourable attitudes (OR = 1.84, p < 0.001). A discordant profile of high preventive attitudes coexisting with acceptance of within-family or tribal marriage was observed in 51.9% of participants.

CONCLUSION

Adults in Al-Baha demonstrated strong acceptance of preventive genetic services alongside generally good knowledge; however, persisting gaps, particularly related to awareness of specific service components and recognition of sensory-disorder links, support targeted community education and strengthened genetic counselling to optimize informed marital and reproductive decision-making.