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GENOMICS ENGLAND

Enhancing Data Quality and Interoperability for the 100,000 Genomes Project 

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“When we started our work on the 100k Genomes Project, the complexity of managing data across so many different sites made it clear that our traditional methods for managing data definitions and processes were not going to work. METADATAWORKS have helped to ensure consistent and standardised data quality and processes for the 100,000 Genomes Project, supporting genomic analysis for participants.”

Amanda
Amanda O'Neil

Director of Clinical Data, Genomics England
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About

 Genomics England is a pioneering organisation in the United Kingdom established by the Department of Health and Social Care. It plays a central role in advancing genomic research and healthcare through initiatives like the 100,000 Genomes Project, which aimed to sequence genomes from NHS patients with rare diseases and cancer. Genomics England collaborates with researchers, clinicians, and the life sciences industry to integrate genomic insights into clinical practice, enabling more precise and personalised medical treatments. It also fosters innovation in data analysis and ethics, maintaining the UK’s leadership in the genomics field.

The Challenge?

Genomics England needed to be able to specify exactly what questions clinicians were asking and iterate them as the study progressed so that findings could be amalgamated and analysed to discover gene-disease linkages.

Traditional methods for managing the quality and consistency of data were failing, with teams becoming frustrated and overwhelmed due to the scale of the project. Moreover: 

  • Data was not specified, processed and integrated within their analysis environment
  • Data was collected and stored in standard documents. 
  • Managing data was mostly manual and labour intensive

How we Helped?

  • Eliminated the time and cost-intensive task of manually parsing data together by automating the process between data collections and immediate analysis.
  • Improved knowledge sharing across teams using our KnowledgeBase.
  • Improved data quality by setting standards for data entry using our KnowledgeBase.
  • Significantly cut time to develop and update their platform.
  • Reduced time to specify datasets.
  • Our efforts facilitated genomic analysis and the 100,000 Genomes Project’s main aims of bringing benefits to patients and enabling new scientific and medical discoveries.