Implementation and delivery of Expanded Carrier Screening in healthcare systems: A mapping review protocol

Implementation and delivery of expanded carrier screening (ECS) within healthcare systems remain heterogeneous, reflecting variation in service organisation, access pathways, and the integration of genetic counselling. While existing literature has largely focused on technological and clinical aspects, less attention has been given to how ECS is implemented in practice and perceived by individuals, couples, and healthcare professionals. This mapping review aims to systematically identify and categorise the available evidence on ECS implementation and delivery across different healthcare contexts. It will examine service models, factors influencing uptake and access, user perspectives, and the integration of genetic counselling, with the goal of identifying patterns, highlighting gaps, and informing future research and practice.