Co-desenho de um programa de aconselhamento genético para a implementação responsável de um rastreio alargado de portadores em Portugal: um projeto de inovação de pacientes, profissionais da saúde e investigadores.

The main objective of this project is to generate scientific and technical knowledge that currently does not exist, which will enable the co-design and effective implementation of a national expanded pre-conception carrier screening (ECS) program, in a scientifically sound, ethically rigorous and socially responsible manner. The ultimate goal of such a program is to empower couples of reproductive ages, increasing their informed and autonomous reproductive choices. For over 20 years, we have successfully implemented reference national programs for pre-symptomatic testing of highly prevalent dominant diseases in Portugal (Paneque et al., 2019; Sequeiros 1996) and in Cuba (Paneque et al., 2007; Cruz-Mariño et al., 2013). Now, using a co-design approach by patients, healthcare professionals, researchers and clinicians of a multidisciplinary team with extensive experience in genetic counseling, as well as in the psychosocial, ethical and public policy aspects of Medical Genetics, we propose the co-production of an innovative national program, evidence-based for the implementation of screening for healthy couples enabling the pre-conception detection of the most frequent mutations causing highly disabling genetic conditions. To this end, we plan to (1) conduct a systematic review of the literature on international experiences, including requirements and recommendations for ECS; (2) explore the level of acceptance, literacy and attitudes of (i) Portuguese couples planning a family and (ii) healthcare professionals; (3) discuss the challenges in establishing such protocols and appropriate approaches to informed consent; (4) co-produce and pilot a Portuguese ECS program involving patient associations, healthcare professionals, clinicians and researchers; and (5) develop good professional practices and (6) increase the societal visibility of these results through public actions to promote literacy and dissemination. Thus, this project will result in (1) a national reference ECS program well accepted and used by the community and healthcare professionals; (2) improvements in clinical practice and population literacy; and, above all, (3) empowerment of options and informed decision-making by couples of reproductive age; promoting (4) reproductive autonomy and the psychological well-being of these couples and consequently contributing (5) to the reduction of the incidence of severe recessive diseases in Portugal, with clear economic and health gains.