We need to generate data from Brazilians because we won't be able to use borrowed information.
In a country whose people carry one of the most genetically diverse inheritances on Earth, Brazil is taking a long-overdue step to ensure that its own biology is no longer rendered invisible by the dominance of European data in global medicine. The Human Genome and Stem Cell Research Center is launching 'Our Genes,' a voluntary screening program for prospective parents, designed both to help families understand their reproductive risks and to begin building a genetic database that truly reflects who Brazilians are. The initiative arrives at a moment when the absence of such data is not merely an academic inconvenience but a measurable cause of misdiagnosis and unequal care. In choosing to generate its own knowledge rather than borrow imperfect tools from elsewhere, Brazil is asserting that precision medicine must, at last, be precise for everyone.
- Couples planning children in Brazil face reproductive decisions without the genetic safety net that exists for populations better represented in global research databases.
- A staggering 90% of the world's genetic data comes from European ancestry, meaning diagnostic accuracy for Brazilians can fall by two-thirds in underrepresented regions of the genome.
- HUG-CELL's 'Our Genes' program will screen participants for 25 recessive disorder risks and Fragile X syndrome, pairing results with genetic counseling so families can make genuinely informed choices.
- Brazil's Genoma SUS initiative has already sequenced 21,000 complete genomes and is racing toward 50,000 more, building the sovereign data infrastructure the country's public health system urgently needs.
- Researchers believe Brazil's uniquely mixed-ancestry population may reveal biological pathways hidden in European-only datasets — turning a gap in global science into a potential gift to it.
Brazil is preparing to launch a genetic screening program that could reshape how the country practices medicine. In the coming weeks, the Human Genome and Stem Cell Research Center — HUG-CELL — will begin recruiting couples planning to have children into a program called 'Our Genes.' Participants will be screened for genes linked to recessive disorders and Fragile X syndrome, one of the leading inherited causes of intellectual disability. The screening is voluntary, and couples who discover they both carry a disease-causing variant in the same gene — a situation carrying a 25 percent chance of an affected child — will receive guidance from genetic counselors on what that means and what paths are available to them.
But the program's ambitions reach well beyond individual families. Brazil is confronting a structural problem in global medicine: the vast majority of genetic research has been built on data from people of European ancestry. The UK Biobank, the world's largest health database, draws 90 percent of its information from Europeans, leaving Brazil's extraordinarily diverse population essentially uncharted. This is not a minor gap. The polygenic risk scores used to predict conditions like diabetes or heart disease perform far less reliably for Brazilians, and in rare disease diagnosis, the absence of non-European data means the odds of a correct diagnosis can drop by roughly two-thirds.
HUG-CELL has been working to close this gap since 2017, when it created the Brazilian Online Mutation Archive — now the country's largest census-based genomic database, holding profiles from 1,170 individuals. The Ministry of Health deepened the effort in 2023 with Genoma SUS, which has already sequenced 21,000 complete genomes across nine regional laboratories, with plans to sequence 50,000 more in the next two years.
Researcher Michel Satya Naslavsky frames the entire endeavor as a question of sovereignty. Brazil runs the world's largest universal public health system, and it cannot afford to rely on diagnostic tools calibrated for other populations. Beyond correcting that inequity, he argues, Brazil's mixed-ancestry population may illuminate biological pathways invisible in European-only data — offering the world new windows into diseases like Alzheimer's or disorders of lipid metabolism. The knowledge Brazil generates for itself, he suggests, may ultimately belong to everyone.
Brazil is about to launch a genetic screening program that will fundamentally reshape how the country approaches precision medicine. In the coming weeks, the Human Genome and Stem Cell Research Center, known as HUG-CELL, will begin recruiting couples who are planning to have children. The program, called "Our Genes," will screen participants for genes linked to recessive genetic disorders—conditions that emerge only when a child inherits two mutated copies of the same gene, one from each parent—as well as Fragile X syndrome, a leading inherited cause of intellectual disability.
The initiative represents a collaboration across multiple Brazilian institutions: the University of Brasília, the Federal University of Bahia, the Federal University of Espírito Santo, and others. Michel Satya Naslavsky, a researcher at HUG-CELL, which operates as a research center at the University of São Paulo's Institute of Biosciences, outlined the project's scope at FAPESP Week London. The screening itself is voluntary. Couples who participate will learn whether both partners carry disease-causing variants in the same gene—a scenario that would mean a 25 percent chance their child could be affected. If that risk exists, genetic counselors will help them understand what that means and what options they have.
But the ambition extends far beyond helping individual families make informed reproductive choices. Brazil is building something the country has lacked: a comprehensive genetic database that reflects its actual population. Most genetic research globally relies on data from people of European ancestry. The UK Biobank, the world's largest health database, contains information on 500,000 British volunteers—but 90 percent of that data comes from Europeans. The remaining 10 percent does not include profiles resembling Brazil's population. This matters enormously. When researchers develop "polygenic risk scores"—mathematical models that aggregate thousands of small DNA variations to predict whether someone will develop diabetes, high blood pressure, or heart disease—those scores perform very differently depending on a person's ancestry. Current global models, built largely on European data, systematically misestimate risk for Brazilians.
The gap becomes even more stark in rare disease diagnosis. When doctors search global genetic databases like ClinVar to identify what might be causing a patient's symptoms, the absence of non-European genetic information means the chance of reaching a correct diagnosis drops by roughly two-thirds for regions of the genome underrepresented in those databases. Naslavsky emphasized that Brazil cannot simply import diagnostic tools developed elsewhere. The country must generate its own data. "There's no way around it," he said. "We need to generate data from Brazilians because we won't be able to use borrowed information."
HUG-CELL has already begun this work. In 2017, the center created the Brazilian Online Mutation Archive, a public database now containing genetic information from 1,170 individuals. It remains the largest census-based genomic database in Brazil. The archive serves a critical function: it identifies which genetic variations are common and harmless in the Brazilian population, allowing doctors to filter out benign mutations and focus their diagnostic search elsewhere. The Ministry of Health accelerated this effort in 2023 by launching Genoma SUS, a parallel initiative that has already sequenced 21,000 complete genomes across nine research laboratories distributed throughout Brazil's regions. The plan is to sequence 50,000 more over the next two years, with FAPESP funding 15,000 of those analyses in São Paulo alone.
Naslavsky frames this as a sovereignty issue. Brazil operates the world's largest public and universal health system. It makes logical sense, he argues, for that system to invest in generating genetic data that will directly benefit its own population rather than relying on research produced abroad. The returns from this investment should flow back to the public health system and to researchers working on public health problems. Beyond immediate diagnostic applications, building a database of Brazilian genetic diversity could unlock discoveries that benefit the world. Brazil's mixed-race population may reveal alternative biological pathways—different ways that genes influence disease—that could lead to entirely new therapeutic targets. Understanding Alzheimer's disease or lipid metabolism through a Brazilian lens might reveal mechanisms invisible in purely European datasets. "Studying our population isn't only important for understanding our risks," Naslavsky concluded. "It's an opportunity to discover biological mechanisms that could benefit the whole world."
Notable Quotes
There's no way around it. We need to generate data from Brazilians because we won't be able to use borrowed information.— Michel Satya Naslavsky, HUG-CELL researcher
Studying our population isn't only important for understanding our risks; it's an opportunity to discover biological mechanisms that could benefit the whole world.— Michel Satya Naslavsky
The Hearth Conversation Another angle on the story
Why does it matter that Brazil builds its own genetic database instead of using what already exists globally?
Because the existing databases don't represent Brazilian people. When you build a risk calculator on 90 percent European data, it doesn't work the same way for someone with African or Indigenous ancestry. You get the diagnosis wrong three times more often.
So this is about fairness in medicine?
It's about accuracy first. But yes, fairness follows. If you can't diagnose your own population correctly, precision medicine becomes a luxury only available to people who look like the people in the database.
What does "Our Genes" actually do for a couple planning to have children?
It screens them for genes that cause recessive disorders. If both parents carry the same mutation, their child has a 25 percent chance of being affected. The screening tells them that risk, and then genetic counselors help them decide what to do with that information.
Is this mandatory?
No, it's entirely voluntary. But Brazil's public health system is massive—it covers the whole country. If you make this screening available and free through that system, you reach people who might never have access otherwise.
What's the bigger picture Naslavsky is describing?
Data sovereignty. Brazil is saying: we're not going to borrow other countries' genetic knowledge and hope it works for us. We're going to generate our own, keep it public, and make sure our health system benefits first. And then, as a bonus, studying Brazilian genetics might reveal biological mechanisms that help everyone.
Has Brazil already started this work?
Yes. They built a database in 2017 with 1,170 genomes. Then in 2023 the government launched a bigger project that's already sequenced 21,000 complete genomes. They're aiming for 71,000 total in the next couple of years.