World Journal of
Pharmaceutical and Life Sciences

A COMPARATIVE ANALYSIS OF TREATMENT ACCESS, OUTCOMES, AND COSTS FOR MONOGENIC DISORDERS IN SAUDI ARABIA: HIGHLIGHTING DISPARITIES AND THE GENE THERAPY LANDSCAPE

Reem E. Alshoweir*, Dr. Ashraf Dada, Dr. Afnan M. Shakoori, Dr. Rawabi Z. Zahed, Malak M. Alsulami, Khawlah A. AlQabi, Abdulaziz K. Almalki, Arwa A. Alzaidi, Nazik A. Alhaj, Hanadi T. Mufti,
Shumukh M. Aljuaid, Laila S. Alnefaie, Ashwaq E. Alharthi, Heba K. Bin Bisher, Abrar A. Alqarni

ABSTRACT

Genetic disorders impose a substantial health burden in Saudi Arabia, driven by high consanguinity rates (56–60%) and a high prevalence of autosomal recessive diseases. This study conducted a detailed, disease-specific analysis of 205 patient records from 2024–2025 to compare treatment access, outcomes, and costs across different genetic disorders and regions. We compared cohorts with thalassemia, sickle cell anemia, G6PD deficiency, Tay-Sachs disease, and cystic fibrosis. Our findings reveal critical disparities: patients with hemoglobinopathies (sickle cell anemia and thalassemia) who received gene therapy demonstrated significantly superior clinical outcomes compared to those on conventional regimens (e.g., blood transfusions), despite the high initial cost of advanced therapies (average ~SAR 931,561). Furthermore, access to these transformative treatments was heavily concentrated in urban centers like Riyadh and Jeddah, creating significant regional inequities. For disorders like Tay-Sachs, where no disease-modifying therapy exists, outcomes were uniformly poor, highlighting an unmet therapeutic need. These results underscore the urgent necessity for a multi-pronged national strategy: standardizing treatment eligibility criteria, decentralizing specialized care to bridge regional gaps, and robustly expanding clinical trial infrastructure to ensure equitable access to cutting-edge therapies for all Saudi patients.

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