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Long Read Sequencing - Babies in Focus

GENOMICS ENGLAND LIMITED

Buyer Contact Info

Buyer Name: GENOMICS ENGLAND LIMITED

Buyer Address: Level 21 One Canada Square, London, UKI42, E14 5AB, United Kingdom

Contact Email: procurement@genomicsengland.co.uk

Status
complete
Procedure
open
Value
2206318.2 GBP
Published
26 Sep 2025, 11:55
Deadline
n/a
Contract Start
20 Oct 2025, 23:00
Contract End
31 Mar 2026, 22:59
Category
n/a
CPV
73111000 - Research laboratory services
Region
n/a
Awarded To
CAMBRIDGE UNIVERSITY TECHNICAL SERVICES LIMITED, EUROFINS GENOMICS UK LIMITED
Official Source
Open Find a Tender

Description

Genomics England is procuring long-read whole genome sequencing services. In partnership with the NHS and other stakeholders, we are 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 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 for at least 2,000 samples across two long-read technologies. This will help inform us of the plans for the larger funding that is being requested as part of the 2026-2030 spending review. These services will be split into two lots: Lot 1: 1,000 samples to be delivered to the supplier and sequenced between 5 January 2026 and 31 March 2026 using ONT technology. An earlier start date may be mutually agreed by the Supplier and the Authority if implementation is completed before 5 January 2026. Lot 2: 1,000 samples to be delivered and sequenced between 1 April 2026 and 1 September 2026 using PacBio technology. An earlier start date may be mutually agreed by Supplier and the Authority, subject to the Supplier's willingness and capability, and Authority funding. There is an optional extension (volume to be confirmed) of up to a total of 1,000 additional samples. These optional extension volumes may be awarded to one or split across both lots. These optional volumes must be delivered by 1 March 2027.

Linked Documents

No linked documents found for this notice.

Opportunity Context

Lots

Lot 1 Status: complete

Lot 2 Status: complete

Awards

Award Title: 2025-2026

Award Title: 2026-2027

Raw Notice JSON

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