Process and Impact Evaluation

Tender 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. Lot 1: Two key components for which we require specific expertise in implementation science, behavioural science, health informatics and health economics are: • Process Evaluation - will address research questions focusing specifically on whether the programme is acceptable and feasible. It will assess study delivery and processes to inform decision making for a possible future clinical service. • Impact Evaluation - will address possible benefits and harms to: o Stakeholders – including participants, Health Care professionals, and the public o The System – including impact on existing newborn screening programmes and the impact on WGS for other patients as well as understanding comparative costs on the health care system. o Experiences and Attitudes – including participants, the public and 3rd sector organisations. Genomics England will act as sponsor for the Generation Study and associated evaluation work. Genomics England is ultimately accountable for the research of which this evaluation forms part. The successful Tenderer will be responsible for design and delivery of all research related activities pursuant to the bid, including but not limited to the delivery of documents for the HRA and any other relevant regulatory bodies (where necessary). Additional information: Interested parties should register with Genomics England's e-tendering portal https://genomicsengland.bravosolution.co.uk and search for project_857 to access all relevant documentation.