Combined Sample Extraction and Whole Genome Sequencing

Genomics England is contracting for services to deliver accelerated combined extraction and sequencing services in support of the Generation Study programme. This Contract Award Notice confirms the award of the contract to the successful supplier to provide sample extraction and whole genome sequencing (WGS) and storage of 44,500 samples within a 7-working-day turnaround time (TAT) service.

The procurement was originally advertised under Contract Notice 2023/S 000-036294 but see below for further information regarding the change to the procedure. The Generation Study is the NHS-embedded research study delivered through the Newborn Genomes Programme and aims to explore the benefits, challenges, and practicalities of offering WGS to newborns, to accelerate diagnosis and access to treatment for rare genetic conditions.

The Study is divided into two stages and this contract covers the second stage of the study, relating to a combined accelerated extraction and whole genome sequencing only. The study has a a target of an end to end 14-working-day service to participant(s) with Day 1 being the day the sample arrives at the sequencing provider and Day 14 being the delivery of the clinical results to the participant(s).

Accelerated Delivery Stage - The Authority has determined that to achieve the 14-working-day service to participant(s), the combined accelerated sample extraction and sequencing service must be conducted in no more than 7-working-days. The service will be scaled to process and store up to 7,000 samples per quarter from July 2025 to March 2027.

There is no minimum committed volume within the contract, but it is anticipated that 44,500 samples will be processed within the 21 months of live service. The initial contract will run from the contract signature date in March 2025 to 31st March 2027, with an option to extend by up to 12 months.