Currently, the newborn screening test detects only six diseases, but the expanded version can identify more than 50, including severe immunodeficiencies such as Severe Combined Immunodeficiency (SCID), which requires immediate intervention.
Newborn screening, mandatory in Brazil's public healthcare system (SUS) since 1992, currently detects only six diseases | Photo: Getty Images
Since 1992, the newborn screening test has been mandatory for all babies in Brazil. The test, performed using a drop of blood collected from the newborn's heel, is designed to identify diseases that can be treated early. However, in many regions, only the basic version is available, which detects just six diseases. Law 14,154 of 2021 mandates that by 2026, all healthcare services in the country must offer the expanded version, capable of identifying more than 50 diseases.
The São Paulo-based technology company Immunogenic, with support from FAPESP, developed a national test that detects rare diseases, including severe immunodeficiencies. According to Antonio Condino-Neto, a professor at USP and the startup's medical director, the project began in 2009 and was tested on thousands of samples at the Jeffrey Modell Center in Brazil. He explains that the purpose of the test is to diagnose conditions that require urgent treatment: “It only makes sense to identify them in neonatal screening if there is treatment available. These conditions demand early diagnosis.”
Among the diseases that can be detected are severe immunodeficiencies, such as Severe Combined Immunodeficiency (SCID), which requires immediate intervention. According to Condino-Neto, the ideal is to diagnose this condition within the first month of life so that treatment, such as stem cell transplantation, can be carried out by three months of age.
In São Paulo, the expanded test has been mandatory since 2020 and has already identified eight cases of SCID in two years, among 8,000 to 10,000 tests performed monthly. “Statistically, we identified twice the expected cases. This makes us very enthusiastic,” says the researcher.
The test developed by Immunogenic is calibrated for Brazilian DNA and costs less than imported tests. Additionally, it is compatible with different molecular biology equipment, facilitating its use in various locations. The startup is also negotiating the international sale of the test to markets such as Europe, the United States, and Asia. “The price should be half or less than that of competitors,” says Condino-Neto.
For now, access to the expanded test in Brazil remains limited. It is not included in the list of mandatory procedures by the National Supplementary Health Agency (ANS), which prevents its coverage by health insurance plans. To change this, Condino-Neto emphasizes the importance of public mobilization: “Public participation in pushing for action is essential for the expanded neonatal screening to be included in the ANS list. This way, coverage will become mandatory for health plans and could reduce costs for the SUS.”
Meanwhile, Immunogenic is seeking registration with Anvisa and partners to expand test production, highlighting the importance of bringing this technology to as many people as possible in Brazil and worldwide.