US sequencing specialist Illumina, Cambridge University and the UK Government have joined forces to lay the foundations for a genomics research revolution.
They are creating a new medical technology platform to sequence 10,000 whole human genomes for National Health Service patients with rare genetic diseases.
The three-year project represents a pilot for Genomics England – owned by the Department of Health – which will provide 2,000 samples, and marks the beginning of the national effort to sequence 100,000 genomes in the NHS announced recently by Prime Minister, David Cameron.
Dr John Bradley, director of the NIHR Cambridge Biomedical Research Centre – a partnership between the University of Cambridge and Cambridge University Hospitals – said the project was a genomics research landmark.
He said: “This project will bring enormous improvements to the care of patients with rare genetic diseases. It will shorten the gap between the first signs of ill-health in a person and providing a conclusive diagnosis by using the power of modern DNA sequencing methods.”
Most patients with a rare genetic disease go through a diagnostic odyssey to find the cause, he said. For many, the long search remains unsuccessful, which not only prevents the delivery of optimal care, but also may aggravate the condition.
Now the university will work with the team led by Dr David Bentley, Vice-President and chief scientist for Nasdaq-quoted Illumina, to develop the workflow and processes to bring routine clinical whole genome sequencing to the bedside.
Illumina, which owns BlueGnome in the Cambridge medical technology cluster, will deliver whole genome sequence data for the project using market-leading technology invented in Cambridge.
“In 1997 sequencing a person’s entire genome as part of healthcare was just an idea and it has always been my hope that one day it would turn into reality and benefit thousands of patients,” said Shankar Balasubramanian, Professor of Chemistry at Cambridge University and inventor of the sequencing by synthesis technique that is used by Illumina’s instruments to read the DNA code.
There are an estimated 7,000 rare diseases and about 3.5 million people in the UK will be affected by a rare disease at some point in their life.
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