Accelerated Combined Extraction and Whole Genome Sequencing Service

Description

Genomics England is aiming to return any ‘condition suspected’ findings regarding an agreed list of 200+ severe conditions for which there is an intervention available early in childhood to families in a timeframe which enables clinicians to order confirmatory tests and start therapeutic treatment. The optimal timeframe has been assessed as 14 working days, with 7 working days of this allocated to extraction and sequencing. ‘No condition suspected’ findings will be returned directly to participants and will not be subject to target turnaround times. However, as this is not known until sequencing is complete, the net impact is that all sequences should be delivered in the timelines described. The study aims to develop ‘modular’ evidence for policy makers on sequencing as in other areas. For example, separating the evidence on the performance of specific sequencing platforms to detect a particular range of genomic variation from the evidence on the impact of using screening led by the detection of particular classes of genomic variation. This mirrors the ‘technology agnostic’ approach taken by NHS England in the NHS Genomic Test Directory. To this end, Genomics England are considering a multi-supplier supply chain approach across technologies during the course of the study that enable the development of this evidence. With this approach the sequencing volumes can be delivered by multiple suppliers using a variety of technologies.

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