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Government aims to complete genome sequencing project by end of 2018

The government-funded 100,000 Genomes Project, originally due to be completed by the end of 2017, has reached the halfway point and aims to have mapped 100,000 genomes by the end of the year

The government has reached the halfway milestone of the 100,000 Genomes Project and aims to have sequences of 100,000 genomes by the end of 2018, a year after the original target date.

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

The ambitious scheme, which is a collaboration between Genomics England, NHS England and the Department of Health and Care, was announced by health secretary Jeremy Hunt in July 2013, and in 2015 it began recruiting patients for the programme.

It has now reached 50% of its goal, having sequenced 50,000 genomes from 40,000 patients, with 8,000 of those genomes for cancer patients and 42,000 for rare disease patients, or family members across 11 NHS genomic medicine centres. This includes sequencing genomes for breast, brain, lung, prostate and renal cancers.

The aim of the project is to use big data and genetics to develop personalised medicine, being able to target treatment for the individual patient. 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”.

Health and social care secretary Jeremy Hunt said reaching the halfway line was an “incredible achievement”.

“We’re backing our world-leading scientists and clinicians in the NHS to push the boundaries of modern science and embrace new technology – using data to transform the lives of patients and families through quicker diagnoses and personalised treatments,” he said.

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As well as improving care and treatment for patients, the project also aims to kickstart a UK genomics industry, ensuring the UK emerges as a leader in the field.

Building the platform and infrastructure to do the sequencing has been challenging, with the raw data from one genome taking up around 200GB, providing huge amounts of data.

John Chisholm, executive chairman at Genomics England, said that since the start of the project, the organisation has, together with several partners, “built the infrastructure and protocols to deliver health-enhancing diagnostics from consented patients with undiagnosed rare genetic diseases and common cancers, while at the same time enabling their data (in de-identified form) to provide the basis for research leading to improved therapies and treatments”.

“Having built the platform and reached the 50,000 halfway point, we are now able to operate at a scale to complete the target by the end of 2018,” he said.

The aim is that once the project is completed, genomic technologies will be embedded in the NHS through a new genomic medicine service. 

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