UK’s world-leading genome project goes live

NHS clinicians and researchers are being invited to start mining the data generated by the large-scale genome mapping project in the UK.

The 100,000 genome project – said to be the largest initiative of its kind in the world – was first unveiled in December 2012 with the aim of improving the understanding of how genes affect rare inherited diseases, cancers and infectious disease, as well as guiding the development of new diagnostics and treatments.

The sequencing of 75,000 genomes among patients with rare diseases and cancer is expected to be completed by 2017. However, Genomics England – which was set up last year to organise and oversee the project – wants to get the research community on board as soon as possible.

The state-owned company said the Genomics England Clinical Interpretation Partnership (GeCIP) would allow the best researchers in the UK to work with the data alongside their international collaborators in a secure date centre.

It wants to attract disease experts, experts in ethics and social sciences, computer scientists and health records researchers who can be formed into multidisciplinary teams focusing on areas such as rare heart disease, breast cancer and rare inherited neurological disease.

“We need a coalition of intellects to come together to interpret and use this incredible resource for the benefit of current and future patients,” said Genomics England’s chief scientist Professor Mark Caulfield.

The genomes project was set up with an initial funding pot of £164 million, with Prime Minister David Cameron promising another £300 million over the next four years in the summer, including a £78 million partnership with US sequencing specialist Illumina.

Last month, Genomics England identified a short-list of 10 companies – including Illumina, Qiagen Congenica and Lockheed Martin – who are in the running to provide variant annotation and clinical interpretation services for the project.

“We want to make the UK the best place in the world to discover 21st century medicines which is why we have invested in the 100,000 Genomes Project,” said Life Sciences Minister George Freeman.

“Now we need the expertise of researchers and NHS professionals to interpret the data from the project so we get maximum benefit for patients and their families.”

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