INTERFARMA attended discussions and meetings during the first and second week of March that aimed at rising awareness about the topic as well as discussing proposals to improve the scenario of Rare Diseases in Brazil. The meetings were organized by patient associations, member companies, local media and the parliament caucus on Rare Diseases.
According to the experts who attended the events, including public manager, members of the parliament, scientist and doctors, some of the main challenges and opportunities faced by Brazil when it comes to the Rare Disease agenda include:
- Early stage diagnosis (including genetic testing and the expansion of neonatal screening);
- Lack of multidisciplinary teams trained to treat rare diseases;
- Reduced number of accredited reference services, crucial for diagnosis and treatment of afflicted patients. The existing ones have production and capacity challenges
- Uncertainties regarding the exact number of patients for the different diseases, which hinders the establishment of specific public policies;
- Access to medications and therapies – challenges in therapies appraisal (analysis of cost effectiveness vs. budget impact; in addition to aspects related to the transparency of the process) or the slow delivery of already-appraised medications;
- Implementation of the National Rare Disease Policy.
- Good momentum in the National Congress and the Executive Power when it comes to creating and agenda to the involvement of the First Lady in the discussion has also raised awareness and engagement ;
- Advanced therapies being developed for some of the pathologies (gene therapy, for example);
- Regions with expanded neonatal screening – testing more than 6 diseases, which is the maximum number currently offered in the public health system;
- ANVISA”s commitment to step up approval for the registration of resercah dossiers, in addition to the publication of ANVISA Board Resolution (RDC) No. 378/2020 which defines criteria and processes for the assessment of new gene therapy;
- New contract and funding models based on Real World Evidence (RWE), with some models in the pilot phase within the National public health system (SUS). This opens up the dialogue between the government and the pharmaceutical industry;
- Greater presence and engagement of patient associations in decision-making processes of policy development and appraisal of therapies.