UCL Great Ormond Street Institute of Child Health


Great Ormond Street Institute of Child Health


The Generation Study Process and Impact Evaluation

The Generation Study Process and Impact Evaluation logo

Study Overview

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 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


Breaking Down Barriers - Alström Syndrome UK 

Kerry Leeson-Beevers

Genetic Alliance UK 

Amy Hunter

Jennifer Jones

Great Ormond Street Hospital for Children

Bethany Stafford-Smith

Melissa Hill

Wing Han Wu

Queen Mary University of London

Dr James Buchanan

Martin Vu

Warwick Medical School

Professor Felicity Boardman