Rare diseases: proposition of a list based on the Brazilian Health System

In Brazil, the Federal Constitution establishes that health is a social right and a duty of the governments of the Union, the States, and the Municipalities [1]. Public institutions and agencies constitute the public health system – Unified Health System (SUS) [2]. The organization and functioning of the SUS are based on principles that provide, among others, open access, free of charge and comprehensive healthcare [2]. Many advances in the structuring of public health policies have allowed greater access to services and medicines at SUS, however, there is a need for continuous progress when considering some population niches such as those with rare health conditions. The National Policy for Comprehensive Care for People with Rare Diseases (PNAIPDR) was published in 2014 [3] and implemented in 2015 [4]. At that time, a Panel of Experts established diseases or a group of diseases that were initially considered a priority within the scope of PNAIPDR [4]. According to this policy, the definition of a rare disease is given by the prevalence threshold, which establishes that rare disease affects up to 65 people per 100,000 inhabitants [3]. However, there is no notification system in the country that considers the registration of rare diseases, and only some diseases are of compulsory notification [5]. Consequently, there is no registry system with epidemiological information that can provide prevalence data to establish the rarity of a given health condition and create a list based on population prevalence. So, despite being a widely used term, one can ask: what are, in fact, the rare diseases treated, in some way, in the Brazilian public health system? At the international level, the Orphanet report provides a list of diseases considered rare in Europe (prevalence of up to 50/100,000 inhabitants) and the European Commission advocates the creation of the European Rare Disease Registry Platform that would act as a focal point for the registries of rare diseases in the European Union [6]. Furthermore, in the United States, which was the first country to establish national orphan drug legislation, in 1983, and is now one of the leaders in the treatment of rare diseases in the world, the estimated prevalence, added to the data source and basis consulted is a required evidence for the FDA to provide orphan designation to a medicine [7,8]. In Brazil, the PNAIPDR aims to qualify and guarantee people with rare diseases, in a timely manner, access to diagnostic and therapeutic means available according to their needs [3]. To this end, it provides for the organization and availability of dedicated services prepared to meet this population’s demands. However, state and municipal health managers are often faced with doubts about the classification of a given disease as rare or not, which generates conflicts with patients and associations, in addition to organizational difficulties in prioritizing and planning such services to meet the requirements of the published policy. Regarding access to medicines and pharmaceutical services, the PNAIPDR also established the need to incorporate pharmacological treatment and nutritional formulas when indicated within the scope of the SUS [3]. Medicines for such diseases, in SUS, are made available, for the most part, by the strategy of the Specialized Component of Pharmaceutical Assistance, whose initial step is the assessment and recommendations made by the Brazilian agency for health technology assessment (National Commission for the Incorporation of Technologies in SUS – CONITEC) and the subsequent development of Clinical Protocols and Therapeutic Guidelines. Considering also that for many rare diseases, there is no specific pharmacological treatment and that, in some cases, patients are prone to develop other chronic conditions and are polymedicated [9], the Basic Component of Pharmaceutical Assistance, based on the principle of equity [2] in access to treatment, should offer these patients the same opportunity to access treatments that are common to all people. For the planning and development of actions and services that meet the PNAIPDR, therefore, health professionals and managers must recognize what rare diseases are and how SUS covers them. The management of rare diseases often involves complex and specialized care, which may not be considered a priority in managing local health care networks, restricting the support of patients’ health needs [10].