100,000 Genome Project Aided by GenomOncology

Genomics England is partnering with GenomOncology LLC (GO) to utilise the GO Knowledge Management System (GO KMS) as a tool for clinical reporting enablement.

Genomics England will integrate the GO KMS as a key content driver to augment clinical reporting in the 100,000 Genomes Project’s cancer programme, coupling Genomics England curated database with the GO KMS’s data for a comprehensive clinical report comprised of the most relevant drugs, prognoses, and clinical trials.

The GO KMS enables Precision Medicine by allowing users the ability to aggregate and analyse biomarker-based data.  The GO KMS leverages a large number of existing data sources including FDA, NCCN, and ASCO guidelines as well as providing exclusive API access to the expertly curated data of My Cancer Genome. The GO KMS allows users to analyse genomic variants within a ‘genomics-aware’ framework that includes a diverse set of annotations including genes, pathways, drugs, alterations, transcripts, and a disease ontology.  In addition, the GO KMS is designed to empower researchers and clinicians alike to build and maintain their own curated knowledge repositories.

GO and Genomics England will work through an initial implementation phase that will focus on extending the GO KMS to include NICE Guidelines and UK-specific clinical trials, as well as a variety of other enhancements to support clinical reporting, leading to more personalised care for NHS patients.

Augusto Rendon, Director of Bioinformatics at Genomics England said: “GenomOncology brings to the table a widely used knowledge base, as the people behind My Cancer Genome. Their data was easy to integrate into variant annotation and interpretation pipelines due to their consistent variant nomenclature. Through exhaustive curation GenomOncology has made great progress in solving the difficult problem of representing cancer variants consistently in order to support genomic workflows”.