More families get all their genes mapped

15th October 2015

More than 5,000 people affected by inherited diseases and cancer have had all their genes mapped as a big project designed to encourage better treatments grows "apace".

The work, which includes looking at families affected by cardiomyopathy, is part of the 100,000 Genomes Project, set up by the Government in England, to sequence the genes of people with conditions 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.

Sir John Chisholm, executive chair of Genomics England said: “I’m pleased to report that sequencing continues apace and our dataset grows each day. We have now sequenced over 5,000 whole genomes. These are largely from our pilot study. All 11 NHS Genomic Medicine Centres  are up and running and recruiting patients.”

These are:

  • 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

Sir John also announced two new partnerships for Genomics England from opposite ends of the globe – in Canada and Australia. “Both of these will enable us to share resources and expertise to advance genomic medicine around the world.”  

He added: “We have also been out to meet some of the first participants in the project.  The stories of these patients and their families powerfully demonstrate why we are here and we are enormously grateful to them for sharing their experiences with us.  By bringing genomic medicine into the heart of the NHS, we hope to understand the cause of many diseases and tailor better treatments for patients now and for generations to come.  It is those people taking part in the project who are making this possible.”