Implementation of an expanded carrier screening offer for couples

Carrier screening refers to the process aimed at identifying couples at-risk of having a child affected with a genetic condition, when they have no preexisting risk of being carriers, such as an affected family member. Recent advances in genomic technologies has meant that rather than screening for single disorders, individuals' carrier status can be tested for a large number of recessive conditions at the same time, and for little or no additional cost. This expanded carrier screening (ECS) has important public health implications. Offering ECS at a population level, prior to conception, would provide couples with more reproductive options, such as using artificial reproductive technologies or adoption. This project aims to evaluate the experience of couples with an ECS offer, their decision-making process, and the meaning and impact of results. Couples will be offered ECS to identify their risk of having a child affected with a genetic condition. The project will involve developing the ECS test, including determining which conditions should be included for screening. The pilot will be evaluated from numerous perspectives, including surveys with all couples offered the test, interviews with a selection of participants who underwent testing and also participating clinicians offering the test. The project will determine whether it is feasible for ECS to be offered within the healthcare setting in Belgium and if so, the most ethically sound approaches for its implementation.