i3S launches national survey on genetic screening before pregnancy
What if every individual or couple of reproductive age could find out, before having children, whether they are carriers of dozens of inherited genetic conditions? i3S wants to hear the views of people living in Portugal.
As part of the GenCECS project, a multidisciplinary team of researchers has launched an online survey targeting adults of reproductive age living in Portugal to explore their perceptions, knowledge, concerns, questions and expectations regarding expanded preconception genetic carrier screening.
The study aims to contribute to the development of a genetic counselling programme tailored to the Portuguese context and to support discussion about the potential introduction of this type of screening in Portugal.
Advances in genetics now make it possible to identify, before pregnancy, whether an individual or couple carries genetic variants associated with inherited recessive conditions such as cystic fibrosis, spinal muscular atrophy and Duchenne muscular dystrophy, even when there is no known family history. In most cases, carriers do not show any signs or symptoms of disease, but they may pass these genetic variants on to their children if both partners carry the same pathogenic variant.
Expanded Carrier Screening (ECS) has gained increasing attention in several countries, although it is not yet widely available to the general population in Portugal. International evidence suggests that, when accompanied by appropriate genetic counselling before and after testing, expanded carrier screening can support reproductive autonomy and help individuals and couples make more informed reproductive decisions.
Despite growing international interest in the subject, no studies have yet been conducted in Portugal to specifically explore public understanding, acceptability, opinions and preferences regarding expanded preconception genetic carrier screening.
"With this study, we want to hear the views of people in Portugal before considering the implementation of this new genetic screening programme," explains Milena Paneque, Principal Investigator of the GenCECS project. "Genetics is transforming reproductive medicine, but i3S believes that any innovation in this field should be accompanied by clear information, appropriate genetic counselling, and a genuine understanding of people's needs, concerns and expectations. The views of potential users are essential to developing services that are more accessible, responsible and appropriate to the Portuguese context," she adds.
GenCECS is a co-design project aimed at developing a national genetic counselling programme for expanded preconception genetic carrier screening. The multidisciplinary team brings together researchers, healthcare professionals and representatives of patient organisations, and seeks to incorporate the perspectives of the general public and other relevant stakeholders to ensure that the programme is participatory, evidence-informed and adapted to the Portuguese context.
The survey is anonymous, takes approximately 10 minutes to complete, and is available online to adults of reproductive age living in Portugal.
