Advances in newborn screening: development of an online scenario-based tool to enable research participation and public engagement. (Preprint)

BACKGROUND Newborn screening (NBS) aims to identify babies affected by rare but serious genetic conditions. As technology advances, there is the potential to expand the NBS programme following evaluation of the likely benefits and disbenefits. It is important to consider the family experience of screening, and the views of the public. To engage in public dialogue can be difficult; the conditions, screening processes, and associated moral and ethical considerations are complex. We consider a new approach to engage and consult on the implementation of extended genetic testing in NBS for Cystic Fibrosis. OBJECTIVE To develop a stand-alone online resource to enable a range of stakeholders to understand and consider the question: How/should extended genetic testing be used when screening babies for Cystic Fibrosis? METHODS Four development workshops with policy makers, parents, and other stakeholders informed the design of an interactive activity, including the structure, content, and questions posed. Vignettes constructed using interview data, and translated into scripts were recorded to provide short films to represent and provoke consideration of families’ experiences. RESULTS An open access online resource, ‘Cystic Fibrosis Newborn Screening: You Decide’, was developed and usability and acceptability tested to provide the ‘user’ (e.g. a parent, the general public, and/or a healthcare professional) with an interactive scenario-based presentation of the potential outcomes of extended genetic testing allowing them to visualize the impact upon families. A learning workbook explains key concepts and processes. The user is then presented with questions to collect their views on potential approaches to implementing extended genetic testing. CONCLUSIONS The resulting tool facilitates public engagement and understanding of complex genetic and screening concepts. It intends to help people form considered views and facilitate access to the perspectives of parents and the wider public on genetic testing that are otherwise difficult to obtain but are of importance to healthcare professionals and policy makers. CLINICALTRIAL NCT06299566