What is it about?
This work is about the availability of genetic tests for rare diseases in public health services in Brazil. The researchers wanted to understand how many genetic tests are offered by different healthcare institutions in Brazil and how they are distributed across the country. They surveyed 37 institutions that are part of the Brazilian Rare Diseases Network and asked them questions about the availability of different diagnostic tests. Some tests, such as cytogenetic tests and molecular procedures, were offered by a majority of the institutions, while others, like tests for inborn errors of metabolism, had lower availability. They also discovered that some institutions outsourced certain tests to other facilities. Overall, significant variations in the availability of diagnostic procedures were found across different regions of Brazil. The study highlights the importance of identifying these gaps in order to improve access to genetic testing and treatment for individuals with rare diseases in Brazil.
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Why is it important?
This work is important because it sheds light on the availability of genetic tests for rare diseases in public health services in Brazil. Understanding the availability and distribution of these tests is crucial for ensuring timely and accurate diagnoses for individuals with rare diseases. Identifying discrepancies in the supply of diagnostic procedures across different regions can help policymakers and healthcare providers develop targeted strategies to improve access to these tests, ultimately leading to better healthcare outcomes for individuals with rare diseases in Brazil.
Perspectives
The perspectives of this work are to highlight the gaps in the availability and distribution of genetic tests for rare diseases in public health services in Brazil. By identifying these discrepancies, policymakers and healthcare providers can take necessary actions to improve access to these tests, ensuring that individuals with rare diseases receive timely and accurate diagnoses. Additionally, this work will enable the correlation of data with epidemiological information, helping to understand if locations with more tests available are able to make more diagnoses. Moreover, it will allow for the mapping of how the availability of diagnostic tests will evolve in the coming years, as there is a prospect of annual monitoring. By tracking these changes over time, it becomes possible to assess the progress made in enhancing access to diagnostic procedures for rare diseases in Brazil and make informed decisions to further improve public healthcare services.
Bibiana de Oliveira
Universidade Federal de Ciencias da Saude de Porto Alegre
Read the Original
This page is a summary of: Availability of genetic tests in public health services in Brazil: data from the Brazilian Rare Diseases Network, Public Health Genomics, June 2023, Karger Publishers,
DOI: 10.1159/000531547.
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