OBJECTIVES: The rising cost of rare diseases is of concern worldwide. However, there is scarce research on the economic burden of these diseases in Morocco. Knowledge of the cost of their management is important to help policymakers make informed decisions for the development of more appropriate interventions. The aim of this study was to estimate the direct medical costs for patients with rare diseases at the center of consultations and external explorations of the Children's Hospital at the Ibn Sina University Hospital of Rabat.

METHODS: This was a retrospective descriptive study using data obtained from the center’s database. Data were extracted from the medical records of eligible patients with rare diseases who received genetic consultations during the period from October 1st, 2019 to September 10th, 2020. Variables related to socio-economic status were collected. We estimated direct medical costs (in 2021 Moroccan Dirhams [MAD]), including consultations fees, biology, radiology and genetic tests. Costs, extracted from hospital’s databases, were used to calculate the total cost.

RESULTS: The study included 83 patients. The overall direct medical cost of genetic consultations was estimated at 341,890.50 MAD. The mean direct medical cost was found to be 4119.16 MAD [14,816; 655] including the cost of molecular cytogenetics which was 5700 MAD [7000; 1800], the cost of molecular biology 4028.57 MAD [13,500; 900], the cost of radiology examinations 2056.61 MAD [5550; 81], the cost of biology tests 1200 MAD [6230; 54], the cost of conventional cytogenetics 900 MAD and the costs of pediatric and genetic consultations were 400 MAD and 180 MAD respectively. Byler’s disease was the most costly (14 816 MAD per patient).

CONCLUSIONS: There is a considerable economic burden associated with rare diseases in Morocco. Efforts focused on introducing basic genetic tests and newborn screening should become a priority.