Building a National Policy for Rare Disease in Brazil

Abstract

Rare diseases (RD) are individually rare, although encompass a significant proportion of the population, affecting not only the individuals but also their families. In Brazil RD is defined by the Ministry of Health as a disorder that affects up to 65 individuals in 100,000, or 1.3 individuals in every 2,000. In this review the environment that led to the publication of a National Policy for Comprehensive Care for People of Rare Disease in 2014, a national plan with the aim to decrease morbidity and mortality of RD, improving the care of people with RD in the public health system are described. The process that finally led to such policy took over a decade, moving forward not only due to technical needs, but having patient organizations as essential actors and advocates. Specialized centers in RD were licensed and, since its publication, 33 centers have been accredited; such process, however, has been slow and concentrated in specific regions and larger cities of the country. Despite the incorporation of genetic tests in 2014 and exome sequencing later in 2020, many genetic tests are not offered by specialized centers, with unequal availability across the country. Public health system in Brazil uses ICD-10 for disease coding, preventing appropriate epidemiologic knowledge of RD in Brazil. Incorporation of new technologies as orphan drugs has been in place and regulation for expedite licensing for new RD drugs were issued, although high cost and availability to RD population has been a challenge.

Keywords: Brazil; Public health; Public policy; Rare diseases.

Fig. 1

Timeline of the National Policy for Rare Diseases in Brazil

Fig. 2

Distribution of Rare Disease Reference Services (black) and Specialized Care Services for RD (red/*) across the five regions of Brazil

Fig. 3

Number of procedures performed per year, categorized by different clinical diagnostic procedures and genetic counseling. Data collected on July 5th, 2024 from Datasus Tabnet Win32 3.2