RREAL leads the process evaluation for the Generation Study to evaluate the implementation of genomic newborn screening in the NHS, funded by Genomics England.

Genomics England and NHS England have established the Generation Study to deliver genomic newborn screening (gNBS) for 100,000 births in 2024/5 to explore the benefits, challenges, and practicalities of offering gNBS to parents in England
(https://www.generationstudy.co.uk/). The Process and Impact Evaluation research team has been funded by Genomics England to undertake an independent mixed-methods evaluation of the Generation Study. The evaluation will have oversight from a Study Advisory Group that includes academic, clinical and patient representatives and a Patient and Public Involvement and Engagement (PPIE) Advisory Group that includes members from parent and patient
organisations and parents with relevant experiences. The Process and Impact Evaluation will examine whether offering gNBS in routine care is feasible and acceptable and inform our understanding of the clinical utility and cost effectiveness of gNBS. Through surveys and interviews we will explore the attitudes and experiences of parents who have been offered gNBS and consider the clinical, psychosocial and health economic impacts, both positive and negative. The evaluation will consider a range of stakeholder stakeholder views, including parents, professionals, patient organisations and the public.

Our full protocol, can be accessed as a preprint on
medRxiv. https://medrxiv.org/cgi/content/short/2024.05.14.24307295v1