Viapath contributes to pioneering gene sequencing project
The Government’s ground-breaking £300m project to sequence 100,000 Genomes, unlocks the possibility of everyone having the entire three billion letters of their genetic code unravelled in order to diagnose, treat and even predict future illness.
Professor Caroline Ogilvie, Viapath’s Scientific Director for Genetics, explains “This is a ground breaking project with the potential to transform genetic diagnosis for future patient benefit across all areas of medicine. We are extremely excited to be contributing to the pilot and look forward to applying our considerable expertise to the full project when it commences next year.”
The project is being run by the NHS-owned Genomics England and we are already collaborating with our partners, Guy’s and St. Thomas’ NHS Foundation Trust, on a pilot.
The 100,000 Genome Project is divided into the following five parts:
- Recruit patients with rare inherited disorder or specific types of cancer and gain consent to their DNA being used
- Extract the patient’s DNA
- Sequence the DNA on sequencing machines
- Analyse the DNA sequence information, using complex bespoke algorithms designed by people called bioinformaticians. At Viapath we recently recruited our first senior bioinformatician and a nationally funded trainee
- Return output from analysis to recruiting centres/laboratories for interpretation and confirmatory studies
Professor Tim Hubbard is Head of Bioinformatics at Genomics England. He said: “The 100,000 Genomes Project will enable the UK to become world leaders in genetic research. Our NHS gives us the leading edge internationally, enabling us to unlock patient benefits from research much more quickly...”
No other similar project of this scale exists anywhere else in the world. The information and understanding of genetic disease gained from the results will ultimately lead to a transformation of the way that diseases are diagnosed and treated within the NHS and worldwide, with better tests, better drugs and better care for patients as a result.
