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Genomics England sequences the 100,000th genome

Last Reviewed 6/12/2018

By Evan Wroe

Last night Genomics England announced that the 100,000 Genomes Project has successfully reached its goal, sequencing the 100,000th whole genome.

Launched in 2012 by Genomics England, and in partnership with NHS England, the 100,000 Genomes Project set out to establish whole genome sequencing as a widespread diagnostic tool for rare genetic diseases and cancers. It has since brought genomic medicine to the forefront of NHS healthcare, and placed the UK in the unique global position of offering access to genome sequencing in mainstream healthcare.

The 100,000 Genomes Project has been a step forward for the genetic, rare and undiagnosed community, with patients receiving diagnosis where otherwise none would have been possible. According to Genomics England, one in four participants with a rare disease received a diagnosis for the first time. It has also provided a wealth of anonymous genomic data for use in research into rare and genetic conditions, which could prove pivotal in the development of treatments and therapies for these conditions in the future.

Sequencing 100,000 genomes was no small task, requiring the creation of 13 NHS Genomic Medicines Centres throughout the UK. These centres sequenced genomes from 85,000 participants, and employed 1,500 NHS staff and over 3,000 researchers.

Celebrating the achievements of the 100,000 Genomes Project, Dr Jayne Spink, Chief Executive of Genetic Alliance UK said:

“This landmark announcement, the sequencing of the 100,000th genome, marks a pivotal moment in the creation of a legacy that will deliver significant benefits for patients in the years to come. We offer our congratulations to all at Genomics England and our admiration to all those volunteers who took part.”

Following the completion of the 100,000 Genomes Project, genomic medicine will continue to play an important part in NHS healthcare, in the form of the NHS Genomic Medicine Service. This was launched in October 2018, and aims to sequence five million genomes in the UK in the next five years.

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