‘Transformational’ genome sequencing project reaches 100,000 patients target

Matt Hancock has announced that the world’s largest gene sequencing project in healthcare has reached its original target of sequencing 100,000 whole genomes from NHS patients.

People with rare diseases, cancer patients, and family members took part in the project which aims to bring a better understanding of diseases and faster diagnosis to the UK health service.

Launched in 2012, the 100,000 Genomes Project was led by Genomics England and NHS England and used whole genome sequencing technology to improve diagnosis and treatments for patients with rare inherited diseases and cancer.

Hancock called the 100,000th genome a “major milestone in the route to the healthcare of the future” as the project establishes the UK as the first nation in the world to apply whole genome sequencing in direct healthcare.

Thirteen NHS Genomic Medicine Centres were created to support the project, along with a state-of-the-art sequencing centre and an automated analytics platform which returns genome analyses the NHS.

The health secretary 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.

“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.”

In October, Hancock set out a new ambition to sequence five million genomes in the UK over the next five years alongside the launch of the NHS Genomic Medicine Service, which will see all seriously-ill children and adults with certain rare diseases offered.

Hancock stated that “understanding the human code” on this scale was part of the government’s mission to provide truly personalised care to help patients live longer, healthier and happier lives.

Sir John Chisholm, chair of Genomics England, said: “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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Image credit - hh5800


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