Startup from São Paulo develops cheaper and more sensitive neonatal screening alternative
Around 2.5 million babies are born each year in Brazil. Each of them undergoes neonatal screening – the well-known heel prick test –, available in the country since the 1970s and mandatory since 1992. Quick, non-invasive and practically painless for the newborn, the test is offered in public and private networks. of health. Without its results, it is not possible to register the baby at a registry office.
Blood collected from the newborn’s heel allows the detection of more than 50 diseases – although most Brazilian locations still only offer the option that identifies only 6 diseases. A law sanctioned in 2021 determines that, by 2026, all services available in the country offer the most complete alternative.
With the Pipe program (Innovative Research in Small Businesses), from Fapesp (Foundation for Research Support of the State of São Paulo), the São Paulo startup Immunogenic developed a test that recognizes more than 50 immunodeficiencies. The study to create a national alternative for expanded neonatal screening began in 2009, at the Jeffrey Modell Center in Brazil, and involved validation on thousands of samples. “The goal is to identify rare immunodeficiencies”says , professor at ICB-USP (Institute of Biomedical Sciences at the University of São Paulo) and medical director of healthtech.
The immunologist points out that advances in technology have led to the emergence of therapies for rare diseases that were neglected. “It only makes sense to identify them in neonatal screening if there is treatment for them: you create this option if the disease has a relevant incidence in the population and if there is treatment”he explains. “It is for situations that require early diagnosis because there is no point in diagnosing late, when they have already happened.”
Immunodeficiencies, for example, meet all these requirements. In any of these cases, the sooner you diagnose it, the better. “For severe combined immunodeficiency [ou SCID, Severe Combined Immunodeficiency], The ideal is to diagnose in the first month of life to carry out genotyping and schedule stem cell transplantation until 3 months of age.”says Condino-Neto.
According to the researcher, there are around 20 forms of SCID – all of them detected by the heel prick test created by Immunogenic. “A baby with agammaglobulinemia has a lack of B lymphocytes. He is born with antibodies received from his mother during pregnancy, but by the sixth month he no longer has them and is unable to produce others. Early diagnosis prevents the child from dying before completing one year of life. Immunoglobulin replacement is covered by the Unified Health System [SUS]as well as other treatments for immunodeficiencies.”
Currently, screening for the identification of these diseases is carried out using imported tests. Immunogenic scientists then developed a national solution based on academic research. “As this has direct application to individual care, we created Immunogenic, because it would not be possible to continue in an academic laboratory”points out Condino-Neto. “The startup is almost a copy of the human immunology laboratory at ICB-USP, but offers products for the market”compara.
Search for partners
According to the researcher, the Immunogenic test is already used by Apae (Association of Parents and Friends of the Exceptional) in São Paulo, currently called Instituto Jô Clemente. In the capital of São Paulo, there has been a law to carry out expanded screening since 2020. “In 2 years, with an average of 8,000 to 10,000 tests per month, we diagnosed 8 cases of SCID: 2 of congenital agammaglobulinemia and the 1st of congenital leukemia in the world”details. “Statistically, we identified twice as much as expected. This makes us very excited.”
The next step will be to register the test with Anvisa (National Health Surveillance Agency) and find partners to manufacture it. “A national kit has the advantage of being cheaper and of having 15 years of research and sensitivity calibration [o que se detecta] and specificity [o diagnóstico da doença em si, não de um falso positivo] for Brazilian DNA.”
He points out that the imported options do not identify everything that the national one recognizes. “They are good tests, but we have been calibrating them for 15 years on Brazilian DNA, which is different from DNA from other countries”reinforces. “Our kit even diagnoses spinal muscular atrophy [AME].”
According to Condino-Neto, the team is currently studying the concurrent test. “One thing is catalog information, another is real life.” Furthermore, for neonatal screening to be effective, it is necessary to standardize the process across thousands of samples. “The imported test comes with instructions for the user to create their own normality curve. We, as we have been doing this for 15 years, provide more accurate parameters. Even so, each Brazilian state will have different references and, if the platform changes, everything will have to be redone.”
Furthermore, the national test has another advantage: while competitors offer their own equipment for processing samples to those who purchase the kits, the Brazilian alternative is compatible with any molecular biology equipment. “It is a test that has the flexibility to be used anywhere in the world.”
In this aspect, Immunogenic is already looking for interested parties in purchasing Brazilian kits in other countries. “Negotiations to sell our test in other markets are already at an advanced stage. The option can be used in Europe, the United States, Africa, Asia, Oceania, that is, anywhere. In other countries, they will have to reconfirm our reference with their samples, but this is not a disadvantage as the solution is more flexible regarding the processing platform. Not to mention that the price must be half or less than the competition.”
For now, there are still few places that offer expanded neonatal screening at no extra cost. “Babies born in public services in the city of São Paulo already have this guaranteed. In the interior of the State of São Paulo and in other locations, it is necessary to confirm whether the option is available. As it is not yet on the list of the National Supplementary Health Agency [ANS]is not covered by health plans.”
The researcher highlights that awareness of the topic and popular participation in demanding measures are essential for expanded neonatal screening to be included in the ANS list. “Thus, coverage will be mandatory in health plans. They represent more or less 30% of the market in Brazil. It’s a relevant percentage and can help alleviate SUS bills.”
For Condino-Neto, childbirth involves the needs of both the mother and the baby – and both must be satisfied. “It is important that the mother can give birth in healthy conditions and without complications, and that the newborn undergoes the complete newborn screening test. That’s what we want.”
With information from .
