What referral pathways exist for patients considering PGD in the UK?

Patients considering preimplantation genetic diagnosis (PGD) in the United Kingdom should be referred through established genetics services pathways. Primary care providers are responsible for providing information and support and referring patients to genetics services for genetic counselling and testing when there is a raised probability of a pathogenic variant or relevant family history. Genetics services then offer genetic counselling and testing, including cascade testing for relatives of individuals with known pathogenic variants. Referral pathways should include clear referral criteria, online referral forms, family history questionnaires, and information and support to facilitate access. These pathways are designed to ensure patients at risk of genetic conditions can access specialist assessment and discuss reproductive options such as PGD. Commissioners and service providers should ensure awareness and training to improve access to these genetics services, including for under-represented groups. This structured referral process enables patients to be appropriately assessed and supported in decisions about PGD and other reproductive genetic options ¹.