P2 Routes to expanded carrier screening in the UK: usefulness, benefits, and challenges

Expanded carrier screening (ECS) for reproductive purposes is increasingly used before conception to evaluate the risk of transmitting recessive genetic conditions to children. This paper is the first to look at key stakeholders’ perspectives on the usefulness, advantages, and challenges of ECS provision in the UK in three coexisting reproductive pathways. Findings are drawn from interviews with 37 clinical, policy and commercial stakeholders. Stakeholders had nuanced and context-specific perspectives for each pathway: Non IVF-conception: participants agreed ECS could be useful for any prospective parents and should be available, but highlighted significant challenges: difficulty in targeting potential users, confusing testing options, and insufficient follow-up support. IVF: An opportunity to offer ECS with support and follow-on care, reducing additional challenges for vulnerable couples. The cost and delay to treatment were viewed as deterrents. Gamete donation: ECS and match tests were seen as relevant risk mitigation tools, since gametes are used for multiple families. However, concerns about liability resulted in defensive clinical practice; costs, delays and potential multiple tests were challenging for recipients. The way ECS is regulated and implemented should not only relate to the institutional, clinical, and social contexts of the UK, but also to the specific characteristics of each pathway.