Rare variations, common technology: Newborn screening, public health governance, and the mainstreaming of whole genome sequencing in the UK

This project examines the advancing integration of biomedical research assets into healthcare services in the UK, through the lens of England’s genomic newborn screening (gNBS) initiative, the Generation Study. The Generation Study is trialing the use of whole genome sequencing (WGS) as a screening technology to detect rare genetic conditions in newborns, an intervention that could massively expand early diagnosis. However, the Generation Study is also deploying WGS as a tool to build a research biobank, linking the anticipated public health utility of gNBS to its value as a research asset. Using qualitative methods, this project will interrogate how divergent understandings of utility, value, and benefit are shaping the prospective introduction of gNBS into mainstream public health programming, focusing on the perspectives of key experts and public stakeholders. Across four work packages, the project investigates how different notions of utility have played a role in the development, implementation, and forthcoming evaluation of the Generation Study, and how its outcomes may influence the growth of genomic services in Scotland. By exploring how the utility of gNBS is conceptualised and contested, the project unravels the impact of biomedical research economies on the aims and practices of pubic health interventions in the UK.