People with inherited diseases get all their genes mapped

30th June 2015

More than 2,300 people affected by inherited diseases and cancer have had all their genes mapped in a big project designed to encourage better treatments.

The work is part of the pilot phase of the 100,000 Genomes Project, set up by the Government in England, to map the genes of people with conditions, such as cardiomyopathy, that may be disabling life-threatening and costly to treat.

By finding out more about genetic diseases, the Government hopes doctors and drug treatment companies will understand them better and ultimately provide better treatments.

The project, run by Genomics England, was set up to collect data for clinical use by the end of 2017. It has already brought about some diagnoses.

The company’s chief executive Professor Mark Caulfield said: “We want to move quickly and bring maximum benefit to people with these diseases.”

Eleven genomic centres have already been set up to do the work.

  • Cambridge University Hospitals NHS Foundation Trust
  • Guy’s and St Thomas’ NHS Foundation Trust, London
  • Liverpool Women’s NHS Foundation Trust
  • Central Manchester University Hospitals NHS Foundation Trust
  • Great Ormond Street Hospital NHS Foundation Trust
  • Newcastle Hospitals NHS Foundation Trust
  • Oxford University Hospitals NHS Trust
  • Royal Devon and Exeter NHS Foundation Trust
  • University Hospital Southampton NHS Foundation Trust
  • Imperial College Healthcare NHS Trust
  • University Hospitals Birmingham NHS Foundation Trust

Doctors at the trusts are offering suitable patients the opportunity to take part in the scheme.

Two further initiatives have also been set up – the Genomics England Clinical Interpretation Partnership, which will bring funders, researchers and doctors together to drive up understanding of the relevance of gene mapping in the NHS, and the Genomics Expert Network for Enterprises Consortium, which is composed of companies wanting to bring potential benefits to patients.