Scoping review and recommendations for development and delivery of education resources for reproductive genetic carrier screening

Reproductive genetic carrier screening (RGCS) is increasingly available and publicly funded in some jurisdictions. There is a pressing need for user-centric resources to support decision-making. We conducted a scoping review using the Joanna Briggs Institute framework with the aim of mapping studies published between 2014 and 2025 examining individual and reproductive couple perspectives on RGCS. Searches were conducted in Medline, Embase, PubMed and Web of Science. Studies were categorised by design and descriptive characteristics. Eighty-nine studies were included. Research documented motivations for accepting or declining RGCS and the interplay of systemic, structural and personal factors related to decision-making. Investigation of educational needs emphasized moving beyond clinical framing to reflect experiential knowledge. Multiple touchpoints were identified across the service implementation pathway, revealing opportunities for fit-for-purpose resource integration; and perspectives from those with experiential knowledge of genetic conditions added unique insights. However, population diversity was low, with limited research from rural, regional and/or remote locations, diverse family structures, people with intellectual disability or neurodiversity and cultural and linguistically diverse communities. This review maps individual and reproductive couple perspectives on RGCS and offers six expert recommendations for resource development. A key call to action is to engage priority populations in future RGCS research to avoid deepening health inequities.