Building a National Policy for Rare Disease in Brazil

Area of Science:

• Public Health
• Rare Diseases
• Health Policy

Background:

• Rare diseases (RD) affect a significant population, necessitating targeted healthcare strategies.
• Brazil's definition of RD impacts up to 65 individuals per 100,000.
• Patient advocacy has been crucial in driving RD policy development.

Purpose of the Study:

• To describe the development of Brazil's National Policy for Comprehensive Care for People with Rare Diseases (2014).
• To analyze the progress and challenges in implementing RD care within Brazil's public health system.
• To highlight the role of patient organizations in advocating for RD policies.

Main Methods:

• Review of the policy-making process for comprehensive rare disease care in Brazil.
• Analysis of the establishment and accreditation of specialized RD centers.
• Examination of the integration of genetic testing and new technologies in RD management.

Main Results:

• Brazil established a National Policy for Rare Diseases in 2014, aiming to reduce morbidity and mortality.
• Thirty-three specialized RD centers have been accredited, but their distribution is uneven across the country.
• Genetic testing availability is limited, and the use of ICD-10 hinders epidemiological understanding of RD.

Conclusions:

• Brazil's RD policy, developed over a decade with significant patient advocacy, has led to specialized centers and technological integration.
• Challenges remain in equitable access to genetic testing, nationwide availability of services, and comprehensive epidemiological data collection.
• Addressing high costs and ensuring availability of orphan drugs is crucial for improving care for people with rare diseases in Brazil.