Abstract
The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD). Several laboratory tests, most using molecular genetic technologies, have been incorporated by the Brazilian Public Health System, and 18 specialised centres have so far been established at university hospitals (UH) in the capitals of the Southern, Southeastern and Northeastern regions. However, whether the available human and technological resources in these services are appropriate and sufficient to achieve the goals of care established by the BPCCPRD is unknown. Despite great advances in diagnosis, especially due to new technologies and the recent structuring of clinical assessment of RD in Brazil, epidemiological data are lacking and when available, restricted to specific disorders. This position paper summarises the performance of a nationally representative survey on epidemiology, clinical status, and diagnostic and therapeutic resources employed for individuals with genetic and non-genetic RD in Brazil. The Brazilian Rare Disease Network (BRDN) is under development, comprising 40 institutions, including 18 UH, 17 Rare Diseases Reference Services and five Newborn Screening Reference Services. A retrospective study will be initially conducted, followed by a prospective study. The data collection instrument will use a standard protocol with sociodemographic data and clinical and diagnostic aspects according to international ontology. This great collaborative network is the first initiative of a large epidemiological data collection of RD in Latin America, and the results will increase the knowledge of RD in Brazil and help health managers to improve national public policy on RD in Brazil.
Highlights
The term rare disease (RD) is used to describe disorders that affect a small percentage of the population when compared to prevalent disorders in the general population
In Brazil, RD has been diagnosed and treated at specialised centres of medical genetics services at university hospitals (UH) and Newborn Screening Reference Services (NSRS) for specific disorders diagnosed by neonatal screening programs
In January 2014, the Ministry of Health established the Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) [5]
Summary
The term rare disease (RD) is used to describe disorders that affect a small percentage of the population when compared to prevalent disorders in the general population. In Brazil, RD has been diagnosed and treated at specialised centres of medical genetics services at university hospitals (UH) and Newborn Screening Reference Services (NSRS) for specific disorders diagnosed by neonatal screening programs These centres, located primarily in large cities and state capitals, have offered RD diagnosis using clinical and mainly research laboratories because the majority of genetic tests have not been offered by the Brazilian Unified Health System (Sistema Único de Saúde; SUS). In January 2014, the Ministry of Health established the Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) [5]. Epidemiology of rare disease in Brazil Despite great advances in diagnosis, especially due to new technologies and the recently approved policy for the care of RD in Brazil, epidemiological data are lacking. After implementation of the BPCCPRD, epidemiological data can be drawn based on more than 14,700
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