Brazil Launches Groundbreaking Genetic Screening to Prevent Inherited Disorders

A major genetic screening programme has launched in Brazil to help couples understand their risk of passing on inherited disorders. The Our Genes project, led by the Human Genome and Stem Cell Research Center (HUG-CELL) at the University of São Paulo (USP), will test for recessive conditions and Fragile X syndrome. Researchers also plan to build a vast genomic database to improve disease prediction for Brazilians. The initiative offers couples voluntary testing for a panel of genes linked to recessive disorders. If both partners carry harmful mutations in the same gene, their children face a 25% chance of inheriting the condition. Fragile X syndrome, a leading cause of intellectual disability, is also part of the screening.

HUG-CELL, a FAPESP Research, Innovation, and Dissemination Center (RIDC), is coordinating the effort. Partners include the University of Brasília (UnB), the Federal University of Bahia (UFBA), and the Federal University of Espírito Santo (UFES). The project builds on HUG-CELL’s earlier work, such as the 2017 Brazilian Online Mutation Archive (ABraOM), which catalogues benign variants common in healthy elderly Brazilians. Dr. Michel Satya Naslavsky, a key researcher, presented the project’s goals at the FAPESP Week London symposium. He highlighted its dual focus: preventing genetic disorders in families while advancing scientific research. Beyond screening, the team aims to create a genomic repository reflecting Brazil’s diverse populations. This data will help develop polygenic risk scores tailored to Brazilians, improving predictions for diseases like diabetes, hypertension, and heart conditions. The *Our Genes* project aligns with broader national efforts, including the Ministry of Health’s *Genoma SUS* initiative. Launched in 2023, that programme plans to sequence over 71,000 genomes in two years to integrate genomic medicine into Brazil’s public health system.

The screening will provide couples with critical information about genetic risks before starting a family. Meanwhile, the genomic repository could enhance precision medicine across Brazil. Together, these efforts aim to reduce hereditary diseases and improve long-term health outcomes for future generations.