Gene therapy acceptance in a high-consanguinity sickle cell disease population: bridging genetic literacy to therapeutic innovation in Saudi Arabia.

PMID 41580012 | DOI 10.1016/j.exphem.2026.105380 · Experimental hematology · 2026 · View on PubMed ↗

The Jazan region of Saudi Arabia has a high prevalence of sickle cell disease (SCD), compounded by consanguineous marriages. The Jazan region exemplifies a population that is markedly underrepresented in genomic medicine research, distinguished by distinctive sociocultural factors, including consanguinity rates surpassing one half. Although gene therapy (GT) offers a potential cure, its implementation requires an understanding of local awareness and acceptance. A cross-sectional online survey of 357 Jazan residents, including 104 individuals/families affected with SCD, assessed genetic literacy, clinical burden, and GT attitudes. Multivariate logistic regression identified predictors of GT awareness and acceptance. Despite high genetic literacy (84.0% knew SCD inheritance; 72.5% were aware of consanguinity risks), only 45.4% were aware of GT. Graduate education (odds ratio [OR], 3.54; 95% confidence interval [CI], 1.80-6.95) and personal SCD status (OR, 1.97; 95% CI, 1.15-3.37) independently predicted GT awareness. Among affected individuals, GT acceptance was independently predicted by awareness of consanguinity risk (OR, 3.51; 95% CI, 1.25-9.80) and personal SCD status (OR, 2.89; 95% CI, 1.08-7.74). This educated cohort exhibits a significant gap between genetic knowledge and GT awareness. Acceptance is strongly driven by an understanding of inheritance patterns, highlighting the need for genetic counseling that links consanguinity risks to therapeutic advances to facilitate equitable GT implementation.