Impact of socioeconomic status and spatial distribution of patients with rare diseases on healthcare: A study based on data from the National Network of Rare Diseases (RARAS)

• Grant number: 25/00225-0
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: April 01, 2025
• End date: March 31, 2026
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Débora Gusmão Melo
• Grantee: Gabrielly Costa Ribeiro
• Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil

Abstract

Introduction: In Brazil, rare diseases (RD) are defined as those affecting up to 65 people per 100,000 inhabitants. RD pose significant challenges to healthcare due to their low prevalence, delayed diagnosis, and substantial socioeconomic impacts. The national context is further marked by a lack of epidemiological data, inequities in the allocation of healthcare resources, and uneven distribution of healthcare services across the territory.Objective: This study aims to characterize the socioeconomic status and spatial distribution of the residences of families with individuals affected by rare diseases who are linked to the National Network of Rare Diseases (RARAS), analyzing the impact of these characteristics on the healthcare of patients.Methods: This is a quantitative, descriptive, cross-sectional study based on data collected by RARAS between 2022 and 2024. The information, including clinical, sociodemographic, and diagnostic variables, was obtained through validated forms and stored on the REDCap platform. The socioeconomic status of families will be assessed using the "Critério Brasil", while the spatial distribution of residences will be mapped and correlated with the locations of specialized services using geographic information systems. Density maps and road route calculations will be generated to analyze geographic patterns. Data will be analyzed anonymously through descriptive and inferential statistics, exploring correlations between socioeconomic variables, distances from residences to specialized services, and healthcare indicators related to diagnosis and follow-up. Expected results: The study is expected to contribute to identifying potential inequalities in healthcare delivery, particularly among families with lower socioeconomic status and those residing farther from specialized services. The findings may inform public policies and support the development of comprehensive care pathways for patients with RD within the Brazilian Unified Health System (SUS), in alignment with the National Policy for Comprehensive Care for People with Rare Diseases.