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UK genome sequencing project reaches 100,000 genomes goal

Health secretary hails scheme’s progress as “a major milestone in the route to the healthcare of the future”

The government’s ambitious 100,000 Genomes Project has finally reached its goal of sequencing 100,000 genomes.

The government-funded project is run by Genomics England, a body set up by the government for the specific purpose of mapping the genomes of patients in order to advance treatment of cancer and other rare diseases, and was originally due to be completed by the end of 2017.

In March 2018, the government reached the halfway mark, having sequenced 50,000 genomes, and set the goal for 100,000 by the end of this year. 

The project is now complete, having mapped its 100,000th genome. Health secretary Matt Hancock described reaching the target as “a major milestone in the route to the healthcare of the future”.

He added: “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 am 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.”

The scheme, which is a collaboration between Genomics England, NHS England and the Department of Health and Social Care, was announced by the then health secretary, Jeremy Hunt, in July 2013, and in 2015 it began recruiting patients for the programme. A total of 85,000 NHS patients and 1,500 NHS staff have taken part in the project across 13 NHS genomic medicine centres across the country.

The aim of the project is to use big data and genetics to develop personalised medicine, creating the ability to target treatment for individual patients. According to the government, early analysis “has found genetic changes in more than 60% of cancer patients, which could potentially provide new therapies through clinical trials for some of these patients”.

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In October 2018, Hancock announced plans to sequence five million genomes over the next five years, significantly expanding the programme. From next year, the government will launch an NHS Genomic Medicine Service, and also aims to kick-start a UK genomics industry, ensuring the country becomes a leader in the field.

Genomics England chair John Chisholm said that at the launch of the 100,000 Genomes Project, it was seen as 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”.

He added: “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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