Study highlights regional disparity in the treatment of pathologies that affect the immune system
Os are rare diseases that affect the immune system and can lead to immunodeficiency, autoimmune diseases, serious or unusual infections, chronic inflammation, severe allergies and an increased risk of cancer.
Although little known, these conditions represent a broad and complex group of genetic diseases that impact patients’ quality of life.
In Latin America, the was approximately 1 in every 10,000 individuals.
However, with the advancement of DNA sequencing techniques, more recent studies indicate that this number may be higher, with global estimates ranging from 1 in 1,000 to 1 in 5,000 people. This increase does not necessarily reflect a real increase in cases, but rather a greater diagnostic capacity.
In recent decades, as causes of inborn errors of immunity, according to the expert committee of the International Union of Immunological Societies.
These conditions can be inherited in different ways — — and present diverse clinical manifestations. This means that the same genetic change can result in very different conditions between patients. In some cases, two people with the same genetic defect may present mild or severe symptoms, or even remain without clinical manifestations.
This phenomenon may be related, among other factors, to the so-called genetic penetrance. When penetrance is complete, all individuals with the mutation develop the disease. In partial penetrance, only a portion of carriers manifest symptoms, which makes the diagnosis even more challenging.
Genetic sequencing
The advancement of next-generation sequencing has revolutionized the identification of these diseases. This technology allows large portions of DNA to be analyzed quickly and in detail, increasing the rate of molecular diagnosis. Before that, sequencing was carried out using more traditional methods, such as which is more limited and analyzes specific regions of genetic material.
Despite these advances, the availability of these technologies in Brazil is still limited. This makes early diagnosis, access to personalized treatments and adequate genetic counseling difficult for patients and their families.
What we investigate
Given this scenario, researchers carried out a systematic review of the scientific literature with the aim of understanding how next generation sequencing technologies have been used in Brazil to diagnose these diseases.
Available studies were analyzed in bases such as , , e . Initially, 237 publications were identified. After removing duplicates and applying eligibility criteria, only 10 studies were included in the final analysis. This small number highlights a gap in national scientific production on the topic.
Most studies were conducted in large medical centers located in the states of Rio de Janeiro and São Paulo, which concentrate reference services for . This pattern reflects an inequality in the distribution of health resources and infrastructure in the country.
Even in these centers, there are challenges in implementing a broad portfolio of genetic tests, especially for the diagnosis of inborn errors of immunity. Furthermore, the does not reimburse for most genetic testing. This means that, even when families seek alternatives outside the public system, the costs fall entirely on the patients.
As a consequence, around 75% of the Brazilian population, who depend exclusively on the SUS, have limited access to comprehensive genetic diagnosis and adequate treatment. This scenario contributes to the maintenance of regional and social inequalities in access to health, resulting in a dual system.
When diagnosis is delayed, the risk increases
This gap is not just a question of access to technology or scientific production — it is a clinical problem with a direct impact on patients’ lives.
Delayed access to DNA sequencing-based diagnosis may delay potentially life-saving interventions such as hematopoietic stem cell transplantation. This procedure can be curative for some of these diseases, especially when performed early.
This is relevant in serious conditions, such as . In these cases, early molecular diagnosis is essential to guide transplantation at the appropriate time. When performed in the first months of life, before infections develop, transplantation is associated with better survival rates.
On the other hand, late diagnoses increase the risk of serious infections and complications, as well as reducing the chances of successful treatment.
Policies and advances in Brazil
In recent years, Brazil has advanced in incorporating genomics into health. Initiatives like the have been driving precision medicine through genomic sequencing. This contributes to greater diagnostic accuracy and better understanding of disease risk.
A established in 2014, established reference services and specialized care networks in the SUS. Despite the achievement, these services are still concentrated mainly in the Southeast and Northeast regions.
Other initiatives include the creation of in 2020, and the .
The latter currently integrates 20 health institutions and research centers and uses different omics approaches — such as , e — to improve diagnosis, treatment and monitoring of patients. These efforts have promoted greater integration between genetics and bioinformatics centers across the country, facilitating the incorporation of clinical genomics into the SUS.
In February 2026, the Ministry of Health announced the implementation of these exams in the SUS. Exome sequencing will be carried out at , and no .
These institutions already house reference centers for rare diseases and some of these research project initiatives. From now on, they will have the ability to convert science into health for the population.
Persistent Challenges
Despite advances, there are still barriers to implementing these technologies on a large scale. Differences between sequencing platforms, analysis methods, and reporting standards make it difficult to standardize results and compare between laboratories.
Furthermore, the low representation of the Brazilian population in international genomic databases limits the interpretation of genetic variants, especially those classified as of uncertain significance.
In this context, national initiatives such as the and the are fundamental. These banks bring together genomic data from Brazilian populations, including urban, rural and indigenous groups, contributing to improving the accuracy of diagnoses.
Path ahead
The advancement of DNA sequencing technologies has the potential to transform the diagnosis and treatment of rare diseases in Brazil. However, for this potential to be realized, it is necessary to expand access to these technologies, reduce regional inequalities and strengthen the integration between research and the health system.
Without these advances, the country runs the risk of deepening inequalities, in which only a portion of the population benefits from precision medicine, while many patients continue to face long journeys to diagnosis.
This text was originally published by on May 11, 2026, at 9:24 am. The content is free for republication, the source is cited, and has been adapted to the standard of Poder360.
