The UK 100,000 Genomes Project

Presented By

Jim Davies, Chief Technology Officer, Genomics England

Abstract

The 100,000 Genomes Project is linking whole genome sequences to detailed accounts of diagnosis, treatment, and outcomes. The sequences come from patients with cancer or rare, inherited disorders who have consented to the use of their data to increase our understanding of disease and to accelerate the development of new diagnostics and new therapeutics. The patients are under the care of the National Health Service (NHS) in England, and NHS staff are identifying eligible patients, providing detailed clinical and laboratory data, and receiving reports based upon the interpretation of the sequences. These reports may lead to new diagnoses and – following confirmatory tests – to new treatment decisions. The Project has two objectives: to establish a flow of high-quality data for research, and to facilitate the adoption of genomic medicine in the NHS.

Genomics England, the company established to deliver the Project, is using LabKey Server for the management of clinical and laboratory data. In this talk, we will explain how LabKey Server fits into the informatics architecture developed for Genomics England, and explore the challenges faced by the Company: in establishing the data flow; in providing researchers with access; and in promoting the development of new infrastructure within healthcare organisations.

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