100,000 whole genomes sequenced in the NHS

Health and Social Care Secretary Matt Hancock has announced that the 100,000 Genomes Project has sequenced 100,000 whole genomes from NHS patients.

Using whole genome sequencing technology to improve diagnoses and treatments for patients with rare inherited diseases and cancer, the Genomics England and NHS England-led project, first launched in 2012, has delivered life-changing results for patients who have had their genomes sequenced, with one in four patients with a rare disease receiving a diagnosis for the first time.

With 13 NHS Genomic Medicine Centres (GMCs) created to support the project, Hancock set out an ambition to sequence five million genomes in the UK over the next five years, aided by the launch of the NHS Genomic Medicine Service. This will see all seriously ill children and adults with certain rare diseases or cancers offered whole genome sequencing as part of their care from 2019.

Hancock said: “Sequencing the 100,000th genome is a major milestone in the route to the healthcare of the future. From Crick and Watson onwards, Britain has led the world in this amazing technology. We do so again today as we map a course to sequencing a million genomes. Understanding the human code on such a scale is part of our mission to provide truly personalised care to help patients live longer, healthier and happier lives.

“I’m incredibly excited about the potential of this type of technology to unlock the next generation of treatments, diagnose diseases earlier, save lives and enable patients to take greater control of their own health.”

Sir John Chisholm, chair of Genomics England, added: “At launch the 100,000 Genomes Project was a bold ambition to corral the UK’s renowned skills in genomic science and combine them with the strengths of a truly national health service in order to propel the UK into a global leadership position in population genomics. With this announcement, that ambition has been achieved. The results of this will be felt for many generations to come as the benefits of genomic medicine in the UK unfold.”

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