Month: September 2016

North Thames Genomic Medicine Centre celebrates Jeans for Genes Day by reaching 4000th participant

The North Thames Genomic Medicine Centre (GMC) has today announced that more than 4,000 people from the network have taken the opportunity to have their genome sequenced in the 100,000 Genomes Project. The North Thames GMC is one of 13 centres set up by the government to help researchers and scientists gain a better understanding of the genetic causes of rare diseases and cancer so that more effective treatments can be developed.

Professor Lyn Chitty, clinical lead for the NTGMC, said: “It is fantastic that so many people in our region have been able to take part in the project. By sequencing genomes, we have the ability to identify the cause of conditions that have previously been undiagnosed, helping understand these conditions better as well as offering the potential to develop more effective treatments.”

The programme is particularly powerful for people with undiagnosed rare diseases as it allows early diagnosis and helps conditions be managed more effectively. Earlier this year, the first children in the country received their diagnosis through the 100,000 Genomes Project at Great Ormond Street Hospital. As well as removing uncertainty for families, the results received through the project help people to consider future treatment options, social support and family planning.

The North Thames GMC will very soon see more results from genome sequencing being returned to clinicians and their patients. Watch this video to find out more about how the 100,000 Genomes Project can help people – Jessica’s Story. People who are eligible to take part in the project will be identified by their doctor and asked to if they would like to take part by providing samples for genetic sequencing.


About the North Thames NHS Genomic Medicine Centre

The North Thames GMC is a partnership between seven NHS trusts, led by Great Ormond Street Hospital. The partners are:

  • Barts Health NHS Trust
  • London North West Healthcare NHS Trust
  • Moorfields Eye Hospital NHS Foundation Trust
  • Royal Free London NHS Foundation Trust
  • Royal National Orthopaedic Hospital NHS Trust
  • University College London Hospitals NHS Foundation Trust (UCLH)

The centre primarily recruits patients from the north and east of London, Essex, Hertfordshire and Bedfordshire but, due to the wide geographical spread of rare diseases in the UK, it also collects samples from patients across the country who are referred for treatment at our hospitals.


GenomOncology’s Knowledge Management System to analyse cancer samples in the 100,0000 Genomes Project

GenomOncology logo

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”.

Visit GenomOncology’s website here.