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British researchers sequences 100,000 whole genomes

December 07, 2018 By pharmafile

British researchers have sequenced 100,000 whole genomes as part of an effort to improve understanding of rare diseases and move towards the development of personalised treatments.

The researchers, working as part of the 100,000 Genomes Project, were led by Genomics England and NHS England. The project was launched in 2012.

Since its launch, one in four patients with a rare disease has received a diagnosis for the first time.

The project now aims to sequence 5 million genomes over the next five years. The plan, as announced by Health Secretary Matt Hancock, will also see patients with rare diseases be offered whole genome sequencing as part of their care by 2019.

Commenting, Matt 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, 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.

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