GOSH named as key centre in 100,000 Genome Project

22 Dec 2014, midnight

Research and innovation - Lab services

Great Ormond Street Hospital is set to play a lead role coordinating a new North Thames network of hospitals involved in Genomic England’s 100,000 Genome Project.

GOSH has been named as the centre responsible for coordinating the recruitment of patients onto the project through the newly-formed North Thames Genomic Medicine Centre and, alongside partners University College London Hospital NHS Foundation Trust (UCLH), the Royal Free London NHS Foundation Trust, Barts Health NHS Trust, Moorfields Eye Hospital NHS Foundation Trust and London North West Healthcare, will provide blood samples ready for genetic analysis.

By collecting and analysing these genetic samples and matching them with the symptoms and long-term outcome associated with these conditions, the genome project aims to position the UK as the first country in the world to sequence 100,000 whole genomes to help researchers and clinicians better understand, and ultimately treat, rare and inherited diseases and common cancers.

Over the last year, GOSH, UCLH and Moorfields patients took part in a pilot study for the project which involved providing blood samples to Genomics England (GEL) for detailed analysis.

This new announcement means a larger number of patients from GOSH and the other partner Trusts will be involved in the rare diseases component of the study, which will start recruiting in the first quarter of 2015. Other Trusts involved in the collaboration, UCLH, Moorfields, Barts Health, the Royal Free and London North West Healthcare will also recruit patients with rare diseases. Samples collected at UCLH, Barts and London North West will also focus on the study and diagnosis of common cancers with a view to improving treatment.

Specific groups of patients at GOSH will be eligible to take part in the project and these patients and their families will be identified by clinicians before they attend appointments. Information will then be sent to families and the project will be discussed in more detail when attending clinics.

Professor Lyn Chitty, a clinician at GOSH and UCLH and overall clinical lead for the project, said:

“This is a really exciting project and offers a great opportunity. We hope that by doing whole genome sequencing we will identify the underlying genetic cause for some rare diseases as well as potentially highlighting new treatments for cancer patients through a better understanding of the cause of their disease.

“In the longer term, this is a project that stands to transform the NHS. Ultimately, if we can make it affordable and efficient enough, whole genome sequencing could be used as one of the first lines of investigation to help clinicians diagnose diseases more quickly, as well as identifying the most appropriate treatment, without the need for numerous other tests.”