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

Abstract

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

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

“…2 Summary of data collection and analysis Laboratory and human resources A survey using an electronic form has been designed to collect data on the technology laboratory resources and human resources available at the participant institutions for diagnosis and management of RD. Data governance was described elsewhere [ 40 ]. Since the creation of the BPCCPRD in 2014, the SUS has incorporated 19 diagnostic tests, in addition to organising the assistance network [ 41 ].…”

“…3 Activity diagram: survey processes, structure and related data An electronic database will be available in a specific server allowing data sharing and networking using a cloud computational tool at InterNuvem from São Paulo University. Infrastructure and analysis data has been published elsewhere [ 40 ]. A systematic audit of the data collected at each centre will be conducted following the protocol established by the FMRP-USP team [ 40 , 42 ].…”

“…Infrastructure and analysis data has been published elsewhere [ 40 ]. A systematic audit of the data collected at each centre will be conducted following the protocol established by the FMRP-USP team [ 40 , 42 ]. A partial report will be produced characterising the population by region and characterising the centres by their maturity in data collection.…”

“…An electronic database will be available in a specific server allowing data sharing and networking using a cloud computational tool at InterNuvem from São Paulo University. Infrastructure and analysis data has been published elsewhere [ 40 ].…”

Desenvolvimento de uma plataforma baseada no conhecimento para dar suporte à integração, análise e visualização dos dados de uma rede pública de atenção em saúde mental

“…Processos como o controle e a organização de políticas de saúde pública, de serviços de saúde, de recursos e de qualidade do atendimento, podem ser prejudicados pela falta de dados para apoiar a definição de indicadores gerenciais. Entre os principais fatores que influenciam negativamente o processo de tomada de decisão em saúde, podemos destacar a baixa qualidade, disponibilidade e interoperabilidade de dados epidemiológicos e administrativos de saúde (YOSHIURA, 2020;ALVES et al, 2021;NARAYANASAMY et al, 2022). Apesar da existência de tais dados, existem razões que inviabilizam o acesso a eles por parte de gestores e profissionais de saúde.…”