100,000 Genomes Project reaches halfway point

“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,” said Sir John Chisholm, Genomics England Executive Chair.

[Cambridge, UK] The 100,000 Genomes Project has reached its halfway point, the Department of Health and Social Care, NHS England and Genomics England announced this week.

With more than fifty thousand genomes now sequenced, they say the UK is ‘on track to fully realise the potential of genomic medicine’.

Established in 2013, Genomics England has been tasked with the delivery of the project, through which 100,000 genomes from 70,000 people with rare diseases, their families and patients with cancer are being sequenced.

Sir John Chisholm, Genomics England Executive Chair, said: “The 100,000 Genomes Project was a stunningly ambitious project when announced by the (then) Department of Health five years ago.

“Since then Genomics England and NHS England (now joined by Scotland, Northern, Ireland and Wales), working with a huge number of ground-breaking partnerships, have built the infrastructure and protocols to deliver health-enhancing diagnostics from consented patients with undiagnosed rare genetic disease 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.”

Professor Sue Hill OBE, Chief Scientific Officer for England, said the milestone shows the technology can become part of routine care, improving patient lives and keeping the NHS ‘a world-leader’ in this area.

Health Secretary Jeremy Hunt said: “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.

“It is testimony to the hard work of the clinicians and scientists across the NHS and volunteers for the project that we can continue to harness the very best of the NHS and remain at the forefront of this pioneering field.”

Last week, Wales announced that it was joining the 100,000 Genomes Project, with Cardiff Vale University Health Board, Cardiff University and Genomics England signing an agreement to sequence 420 whole genomes, supporting the Welsh Government’s Genomics for Precision Medicine Strategy.

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