Availability of Genetic Tests in Public Health Services in Brazil: Data from the Brazilian Rare Diseases Network.

INTRODUCTION: The Brazilian Policy for Comprehensive Care for People with Rare Diseases (BPCCPRD) was published in 2014, accrediting several reference centers and incorporating many genetic tests for the diagnosis of rare diseases (RDs). The Brazilian Network of Rare Diseases (RARAS) comprises more than 40 institutions that offer diagnosis and treatment for RDs in Brazil. This network includes Reference Services for Rare Diseases (RDRS), Reference Services for Newborn Screening (NSRS), and University Hospitals distributed in all Brazilian regions. OBJECTIVE: The aim of the study was to map the availability and distribution of the BPCCPRD diagnostic procedures in the Brazilian Unified Health System through RARAS. METHOD: Data were collected through a questionnaire on the Research Electronic Data Capture platform, with 22 questions regarding the availability of procedures. Thirty-seven coordinators from RARAS participating centers received the questionnaire link for participation by email from August/2020 to March/2021. All participating institutions ethically approved this project. RESULTS: Of the 37 institutions, 23 (62.16%) offered cytogenetic tests, 20 (54.05%) offered molecular procedures, and 22 (59.46%) offered inborn errors of metabolism diagnostic tests. The Southern blot analysis, enzyme assays on cultured tissue and urinary organic acid tests had the highest outsourcing rate. On the other hand, the procedures most frequently performed on-site were bone marrow karyotype and long-term cultured karyotype. It was observed that 10 of the 37 centers (27%) did not provide access to investigated procedures (on-site or outsourced). The North and Midwest regions stood out in terms of the unavailability of such techniques in at least 40% of the evaluated institutions. DISCUSSION AND CONCLUSION: This study reveals large discrepancies in the supply of diagnostic procedures in the Brazilian territory. Moreover, there is a broad collaboration between services through the outsourcing of multiple diagnostic techniques to address this issue. Finally, this work corroborates the importance of mapping services for the diagnosis and treatment of individuals with RDs to propose actions for the better supply and distribution of these procedures.

COVID-19 BR: A web portal for COVID-19 information in Brazil.

Brazil is a large developing country that requires attention to regionalized behaviors regarding the dissemination of COVID-19. To deal with this complexity, the COVID-19 Brazil observatory was developed. The Portal aims to monitor and analyze data from different sources. Therefore, with a detailed audit, we centralized this information on the evolution of the disease, allowing for territorial and temporal monitoring. The daily publication of numbers about COVID-19 allowed anyone to follow the current scenario in several Brazilian cities. With about 1,7 million accesses, the Portal offers clarity and an easy understanding of the pandemic data in the country.

Mapping, Infrastructure, and Data Analysis for the Brazilian Network of Rare Diseases: Protocol for the RARASnet Observational Cohort Study.

BACKGROUND: A rare disease is a medical condition with low prevalence in the general population, but these can collectively affect up to 10% of the population. Thus, rare diseases have a significant impact on the health care system, and health professionals must be familiar with their diagnosis, management, and treatment. OBJECTIVE: This paper aims to provide health indicators regarding the rare diseases in Brazil and to create a network of reference centers with health professionals from different regions of the country. RARASnet proposes to map, analyze, and communicate all the data regarding the infrastructure of the centers and the patients' progress or needs. The focus of the proposed study is to provide all the technical infrastructure and analysis, following the World Health Organization and the Brazilian Ministry of Health guidelines. METHODS: To build this digitized system, we will provide a security framework to assure the privacy and protection of each patient when collecting data. Systems development life cycle methodologies will also be applied to align software development, infrastructure operation, and quality assurance. After data collection of all information designed by the specialists, the computational analysis, modeling, and results will be communicated in scientific research papers and a digital health observatory. RESULTS: The project has several activities, and it is in an initial stage. Initially, a survey was given to all health care centers to understand the technical aspects of each network member, such as the existence of computers, technical support staff, and digitized systems. In this survey, we detected that 59% (23/39) of participating health units have electronic medical records, while 41% (16/39) have paper records. Therefore, we will have different strategies to access the data from each center in the data collection phase. Later, we will standardize and analyze the clinical and epidemiological data and use these data to develop a national network for monitoring rare diseases and a digital health observatory to make the information available. The project had its financing approved in December 2019. Retrospective data collection started in October 2020, and we expect to finish in January 2021. During the third quarter of 2020, we enrolled 40 health institutions from all regions of Brazil. CONCLUSIONS: The nature of rare disease diagnosis is complex and diverse, and many problems will be faced in the evolution of the project. However, decisions based on data analysis are the best option for the improvement of the rare disease network in Brazil. The creation of RARASnet, along with all the digitized infrastructure, can improve the accessibility of information and standardization of rare diseases in the country. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/24826.

Brazil: the emerging epicenter of COVID-19 pandemic.

INTRODUCTION: Five months after the first confirmed case of COVID-19 in Brazil, the country has the second highest number of cases in the world. Without any scientifically proven drug or vaccine available combined with COVID-19's high transmissivity, slowing down the spread of the infection is a challenge. In an attempt to save the economy, the Brazilian government is slowly beginning to allow non-essential services to reopen for in-person customers. METHODS: In this study, we analyze, based on data analysis and statistics, how other countries evolve and under which conditions they decided to resume normal activity. In addition, due to the heterogeneity of Brazil, we explore Brazilian data of COVID-19 from the State Health Secretaries to evaluate the situation of the pandemic within the states. RESULTS: Results show that while other countries have flattened their curves and present low numbers of active cases, Brazil continues to see an increase in COVID-19 patients. Furthermore, a number of important states are easing restrictions despite a high percentage of confirmed cases. CONCLUSIONS: All analyses show that Brazil is not ready for reopening, and the premature easing of restrictions may increase the number of COVID-19-related deaths and cause the collapse of the public health system.

Brazil: the emerging epicenter of COVID-19 pandemic

Abstract INTRODUCTION Five months after the first confirmed case of COVID-19 in Brazil, the country has the second highest number of cases in the world. Without any scientifically proven drug or vaccine available combined with COVID-19's high transmissivity, slowing down the spread of the infection is a challenge. In an attempt to save the economy, the Brazilian government is slowly beginning to allow non-essential services to reopen for in-person customers. METHODS: In this study, we analyze, based on data analysis and statistics, how other countries evolve and under which conditions they decided to resume normal activity. In addition, due to the heterogeneity of Brazil, we explore Brazilian data of COVID-19 from the State Health Secretaries to evaluate the situation of the pandemic within the states. RESULTS: Results show that while other countries have flattened their curves and present low numbers of active cases, Brazil continues to see an increase in COVID-19 patients. Furthermore, a number of important states are easing restrictions despite a high percentage of confirmed cases. CONCLUSIONS: All analyses show that Brazil is not ready for reopening, and the premature easing of restrictions may increase the number of COVID-19-related deaths and cause the collapse of the public health system.