Process and Impact Evaluation

Description

Genomics England’s Generation Study aims to explore the benefits, challenges, and practicalities of offering whole genome sequencing to newborns, to accelerate diagnosis and access to treatment for rare genetic conditions. The programme funding was confirmed on 13 December 2022 with £105 million of funding to support it. Should it prove beneficial for participants and the wider health service, the study could pave the way for what would be the world’s first national newborn screening programme to incorporate whole genome sequencing. The outcome for this project is for Genomics England to work in partnership with an organisation or group of organisations with the specific expertise to deliver the Generation Study evaluation. The Generation Study will: 1. evaluate the scientific and clinical utility and validity, operational feasibility, and impact on the NHS of using Whole Genome Sequencing to screen for a large number of childhood-onset rare genetic conditions and provide ongoing patient support 2. understand how, with consent, newborns’ genomic and health data could be used for research to enable new diagnostic discoveries and treatments to be developed 3. explore the potential risks, benefits, and broader implications of storing an individual’s genome over their lifetime (e.g., potential for preventative steps, personalised risk-based screening in later life etc.) Please note that this tender seeks a partner to evaluate the first of these three aims only.

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