Frontiers in genetics · 2026
Community awareness of genetic disorders associated with consanguineous marriage and acceptance of preventive screening, a cross-sectional study from Saudi Arabia.
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Sindi Abdulmajeed A A, Albakri Uthman, Alzahrani Sarah A, Alqarni Haneen M, Alzahrani Rimiyyah K, Albanghali Batol M, Shanawaz Mohammed A, Othman Basim A, Alghamdi Dhuha F, Alghamdi Aryam A, Mahzari Ali, Marghani Dina, Albanghali Mohammad A
Аннотация
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.
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.