The Generation Study

The Generation Study is a research project designed to answer questions about the utility, efficacy, process, sensitivity and acceptability of genome sequencing as an additional form of newborn screening in the NHS, alongside the existing newborn ‘bloodspot’ screening. It is aiming to recruit 100,000 babies.

Babies will be tested for variants in a defined set of genes, associated with conditions where there is an intervention that can be initiated in the NHS in early childhood. Further information about these conditions can be found on the choosing conditions page of the Genomics England website.

The majority of babies will not have a rare condition and parents will be informed of a ‘no conditions suspected’ (negative) screening result from the analysis. A minority of babies will have potentially disease-causing variants identified by the automated analysis of their genome, referred to as prioritised variants. This guide describes the details and application of the Genomics England bioinformatics pipeline for the Generation study, the Newborn Screening Pipeline for variant prioritisation. The prioritised variants will be reviewed by NHS clinical scientists on secondment to Genomics England to determine whether they meet the requirements to trigger a clinical pathway. This will involve contact with the family and confirmatory investigations in the NHS, including validation of the genomic result in an NHS Genomic Laboratory Hub (GLH). The description of how these variants will be reviewed is in the Variant Review SOP.