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100,000 Genomes Project hits landmark sequencing goal

10 December 2018
Appeared in BioNews 979

The UK reached its goal of sequencing 100,000 patient genomes last week.

The 100,000 Genomes Project, led by Genomics England in partnership with NHS England, was launched in 2012 with the aim of applying whole genome sequencing technology to health care.

'Sequencing the 100,000th genome is a major milestone in the route to the healthcare of the future,' said health secretary Matt Hancock.

'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.'

The project has sequenced DNA from about 85,000 NHS patients. More than 100,000 genomes have been sequenced in total as patients with cancer have three genomes sequenced – taken from healthy, cancerous and blood cells.

The research has already 'delivered life-changing results' according to Genomics England, with one in four participants with rare diseases being given a diagnosis for the first time.

The project has also helped in half of all participating cancer patients by providing 'potentially actionable results' leading to the option of taking part in a clinical trial or receiving a targeted drug.

'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,' said Hancock.

Professor Mark Caulfield, chief scientist at Genomics England said: 'Genomics England will continue to analyse these genomes alongside life course clinical information to reveal answers for as many participants as possible and improve their NHS care.'

The plan to sequence five million genomes in the next five years was announced by Hancock in October this year (see BioNews 970).

SOURCES & REFERENCES
Faster diagnosis from 'transformational' gene project
BBC News |  5 December 2018
The UK has sequenced 100,000 whole genomes in the NHS
Genomics England |  5 December 2018
UK DNA project hits major milestone with 100,000 genomes sequenced
New Scientist / Press Association |  5 December 2018
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