Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)

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.

Health Policies for Rare Disease Patients: A Scoping Review

“…In the present scoping review, seven of the thirteen analyzed studies were Brazilian, which draws attention to the current discussions on health policies for rare disease patients in Brazil, which have mobilized the scientific community studying the topic [ 42 , 43 ]. Brazil lives under the aegis of the 1988 Constitution, which represents a milestone in recognizing social rights.…”

“…The work of patient organizations and social movements around the world has given voice to the needs of these people and contributed to rare diseases being considered a global public health problem [ 10 ]. In Brazil, this movement culminated in the publication of the Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) within the SUS, in a very pluralistic way and with social participation [ 41 , 43 , 44 ].…”

“…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 as yet unknown. The Brazilian Rare Disease Network (BRDN) is currently under development, comprising 40 institutions, including 18 UHs, 17 rare disease reference services, and five newborn screening reference services [ 43 ].…”

“…This policy, despite being published in 2009 [ 12 ], has not yet been regulated and/or implemented. In the following decade, demands from the Brazilian Society of Medical Genetics, especially represented by non-governmental organizations and research institutions, which had been discussing the subject for some years, along with sectors of the Ministry of Health, lead to the structuring and publication of the Ordinance that created the BPCCPRD in 2014, incorporating tests and accrediting institutions to care for patients with these conditions [ 12 , 43 ]. Thus, the publication of the BPCCPRD was undoubtedly a major step for SUS towards equal access, welcoming people with rare diseases, reducing morbidity and mortality and secondary conditions, and improving the quality of life of these patients by facilitating prevention, early diagnosis/detection, and multidisciplinary care organized transversely with the existing networks in the system.…”

“…Thus, the publication of the BPCCPRD was undoubtedly a major step for SUS towards equal access, welcoming people with rare diseases, reducing morbidity and mortality and secondary conditions, and improving the quality of life of these patients by facilitating prevention, early diagnosis/detection, and multidisciplinary care organized transversely with the existing networks in the system. In addition, the BPCCPRD represented a measure to mitigate the high costs resulting from judicial reviews, in which the State loses its bargaining power due to the urgency of the purchases determined by the lawsuit [ 41 , 43 ].…”