São Paulo, Brazil — A national research initiative coordinated by the University of São Paulo (USP) aims to enroll up to 5,000 Brazilian couples who are planning to start or expand their families in the coming years, offering them free DNA screening to assess the risk of passing on hereditary genetic diseases to their future children.
The project, named Nossos Genes (“Our Genes”), is run through USP’s Center for Studies of the Human Genome and Advanced Therapies. Its central goal is to identify carriers of genetic variants associated with recessive monogenic disorders — conditions that only manifest when a child inherits two defective copies of the same gene, one from each parent. By mapping these risks before conception, researchers hope to empower couples with information that can guide reproductive decisions.
Free Screening and Counseling Across Four Cities
The initiative is designed with a public-health focus: it prioritizes couples served by Brazil’s public health system (SUS) and offers the full package — genetic testing, specialist consultations, and counseling — at no cost. While the initial registration and eligibility screening occur online, in-person services are available in four Brazilian capitals: São Paulo, Salvador, Vitória, and Brasília.
Participants begin by filling out an online form and a questionnaire to determine eligibility. Couples who qualify — those in reproductive age, with zero or one child, residing in Brazil, and connected to the public health system — are invited to an in-person visit for blood collection and genetic analysis.
Certain groups are excluded from participation: pregnant individuals, couples undergoing fertility treatments, and those who already have a child diagnosed with a recessive genetic disorder.
How the Science Works
The laboratory analysis examines hundreds of genes linked to monogenic recessive diseases, including conditions such as cystic fibrosis, sickle cell anemia, and spinal muscular atrophy, as well as Fragile X syndrome. Recessive diseases are particularly insidious because carriers often live their entire lives without any symptoms — the altered gene remains “silent” unless paired with the same alteration from the other parent.
“The risk becomes significant when both partners carry changes in the same gene,” explained researchers involved in the project. “In that scenario, each child has a 25% chance of inheriting both altered copies and developing the disease.”
After testing, results are delivered in a consultation with genetic specialists who explain the findings and what they might mean for future pregnancies. The counseling aims to help couples understand their options, which may include natural conception with informed monitoring, prenatal diagnosis, or alternative family-planning strategies.
A Long-Term Public Health Vision
Beyond individual counseling, the project’s broader ambition is to build a comprehensive database on the prevalence of genetic variants across Brazil’s diverse population. This data could inform future public health policies on family planning and the prevention of genetic diseases — potentially paving the way for nationwide carrier screening programs within the public health system.
Researchers will follow participating couples for years to observe how access to genetic information shapes reproductive choices and what ripple effects emerge across the healthcare system.
Important Limitations
Project leaders emphasize that the screening does not eliminate the risk of genetic disease. The tests cover a defined panel of conditions but cannot detect every possible disorder, including newly arising (de novo) mutations or complex multifactorial diseases influenced by multiple genes and environmental factors. “This is a powerful tool for prevention, but it’s not a guarantee,” the team notes.
How to Participate
Couples interested in the Nossos Genes project can begin the process through the initiative’s online registration platform, which includes detailed FAQs outlining eligibility criteria and the step-by-step process. The project is supported by federal research funding agencies and represents one of the largest preconception genetic screening efforts ever undertaken in Latin America.
As Brazil’s population grows more aware of the role genetics play in health, initiatives like Nossos Genes signal a shift toward proactive, data-driven family planning — one couple, and one genome, at a time.
Source: Olhar Digital
