Brazil launches genetic screening project for prospective parents

In the coming weeks, the Human Genome and Stem Cell Research Center (HUG-CELL) will begin recruiting participants for the "Our Genes" project. The initiative aims to identify couples at an increased risk of transmitting recessive genetic disorders, where a child inherits two altered copies of the same gene, one from each parent, as well as Fragile X syndrome, a common cause of intellectual disability that is passed down through families.

The work will be carried out in partnership with the University of Brasília (UnB), the Federal University of Bahia (UFBA), the Federal University of Espírito Santo (UFES), and other collaborators. Michel Satya Naslavsky, a researcher at HUG-CELL – a FAPESP Research, Innovation, and Dissemination Center (RIDC) based at the Institute of Biosciences of the University of São Paulo (USP) – presented the scope of the initiative during FAPESP Week London.

Couples planning to have children can voluntarily sign up for screening of genes associated with recessive disorders and Fragile X syndrome. If both carry pathogenic variants in the same gene, presenting a 25% risk of conceiving an affected child, they'll be informed during genetic counseling."

In addition to helping people make informed decisions about having children, the project aims to create a large genetic database for Brazil. The goal is to determine the prevalence of hereditary genetic diseases and create "risk calculators." These calculators aggregate various small variations in a person's DNA to predict their likelihood of developing common diseases such as diabetes, high blood pressure, and heart problems. This is important because most current research uses data from Europeans, which does not accurately represent the genetic diversity of the Brazilian population.