Routes to expanded carrier screening in the UK: The perspectives of professional stakeholders

Expanded carrier screening (ECS) is a genetic test, increasingly used before conception, to assess prospective parents’ risk of transmitting autosomal recessive and X-linked pathogenic genetic variants to future children. This paper is the first to describe the distinct coexisting routes to ECS in the UK, and to consider key professional stakeholders’ perspectives on the usefulness, advantages and challenges of these distinctive routes in a national context where ECS is almost exclusively available commercially with little regulatory oversight. Data are based on an extensive systematic search and mapping of ECS providers offering tests in the UK, and interviews with 38 stakeholders involved in the practice, provision, or governance of genomic reproductive technologies in the UK. This study identifies and describes three distinct, parallel routes through which ECS is taken up: unassisted conception, assisted conception (with couple’s own gametes), and assisted conception using donated gametes. We found that these routes served very different needs for clinicians, and identified inconsistency across the routes, with significant variations in cost, access, panel composition, and levels of support for test takers, especially in direct-to-consumer testing. These challenges are compounded by the absence of clear regulatory oversight. Findings suggest that ECS should not be treated as a single, uniform practice. Rather, its framing, implementation and perceived value must be understood in relation to the specific institutional, clinical, and social contexts in which it is situated. This contextual understanding is particularly important for informing the regulation and guidance of the distinct ECS offerings.