Scope
Reference
GEL-RE-25161
Description
Genomics England, in partnership with the NHS and other stakeholders, is co-designing and delivering a national research study, the Generation Study, involving up to 100,000 newborns to understand the role of whole genome sequencing (WGS) to achieve more timely diagnosis of rare conditions and access to early intervention, enabling faster and better care for babies born with rare childhood onset diseases. The Generation Study aims to assess the benefits, challenges, and feasibility of integrating whole genome sequencing into newborn screening to enhance the early diagnosis and treatment of rare genetic conditions. If successful, the study could establish the foundation for the world's first national newborn screening program incorporating whole genome sequencing.
The study also aims to understand how, with consent, newborns' genomic and health data could be used for research to enable new diagnostic discoveries and treatments to be developed. As part of the consent to the study mothers are asked for permission to retain the baby's data and sample and link it to clinical data over the course of their life and the ability to recontact them with further research opportunities.
The study will provide an invaluable dataset to researchers across industry and academia, and we have the opportunity to conduct further studies in a subset of these families to maximise the future impact to patients, researchers and the NHS. Deepening our dataset, including by introducing new modalities, is a priority for industry.
To do this, we to plan to develop an enhanced longitudinal birth cohort (Babies in Focus) in a subset of participants in the next five years. This will begin with conducting long-read whole genome sequencing of at least 1,000 samples across one or more long read technologies.
We are therefore engaging with the market to assess options to partner with a supplier to deliver 1,000 long-read sequences, with potential scope to deliver more.
Contract dates (estimated)
- 24 November 2025 to 23 November 2026
- 1 year
Main procurement category
Services
CPV classifications
- 73111000 - Research laboratory services
- 85145000 - Services provided by medical laboratories
- 85148000 - Medical analysis services
Contract locations
- UK - United Kingdom
Engagement
Engagement deadline
30 June 2025
Engagement process description
Please see itt_2162 on https://public.bravosolution.co.uk/ for more details. A market consultation event will be held via Microsoft Teams on 23 June 2025 at 13:00 BST, please confirm your interest in attending via Bravo. The deadline for responses to this market consultation is 30 June 2025 at 17:00 BST. Please note that this is not a call for competition and a further notice will be issued to begin a formal procurement in the future.
Participation
Particular suitability
Small and medium-sized enterprises (SME)
Contracting authority
GENOMICS ENGLAND LIMITED
- Companies House: 08493132
- Public Procurement Organisation Number: PBTW-5897-QJGY
Level 21 One Canada Square
London
E14 5AB
United Kingdom
Region: UKI42 - Tower Hamlets
Organisation type: Public authority - central government