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Genomics England launches 100,000 genomes collaboration

24 November 2014
Appeared in BioNews 781

Genomics England is inviting applications from UK researchers, NHS clinicians and those in scientific training to access data compiled by its DNA sequencing project, the 100,000 Genomes Project.

By working on the data, researchers aim to identify genetic patterns for a number of rare diseases, cancers and infectious disease. This may, in turn, lead to treatments and new understandings of genetic disorders.

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

'This novel interactive approach at the earliest phase of the 100,000 Genomes Project will lead to more rapid diagnosis and possible new treatments for individuals affected by rare disease, cancer and infections,' he added.

Launched in late 2012 with funding from across government, the 100,000 Genomes Project aims to sequence 100,000 genomes by 2017. The project is currently focused on sequencing the genomes of NHS patients with rare genetic diseases and cancers where researchers believe they can have the most impact on diagnosis and treatment.

George Freeman MP, Minister for Life Sciences, said: '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. 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. I encourage researchers to come forward to participate.' 

Those working in the areas of rare inherited disease, cancer and infectious disease are asked to apply for the Genomics England Clinical Interpretation partnership (GeCIP), where researchers in the UK will work alongside international collaborators. Prime Minister David Cameron said it 'will see the UK lead the world in genetic research within years'.

Dr Michael Dunn, head of genetics and molecular sciences at The Wellcome Trust, said: 'The UK has an advantage in medical genomics because the integrated health service will allow it to compare a lot of genomics information for statistical analysis.'

One of the aims of the 100,000 Genomes Project is to create a genomics service for the NHS. Simon Steven, chief executive of NHS England, said: 'The NHS is now set to become one of the world's go-to health services for the development of innovative genomic tests.'

However, concerns have been raised over the security of the data and how it might be used in the future. Dr Helen Wallace, director of GeneWatch UK, was quoted in the Financial Times as saying: 'We're not opposed to the project as a whole, and think it is good for children with undiagnosed genetic disorders, but are concerned the Government will start using it to predict the future health of citizens.'

'This would obviously be a concern if private companies like insurers could de-anonymise the data by comparing it with other information, and start charging premiums to people with certain genetic set-ups.'

Genomics England has responded to a number of concerns on its website, which states that although the data will be anonymised, there is a 'very small risk that participants could be identified by someone'. However, it added that this would be 'very difficult' and would require getting past its data security. 

DNA project reaches out to researchers and doctors
Financial Times |  11 November 2014
Genomics England calls on the UK research community
Genomics England (press release) |  12 November 2014
Partnership Launched to Leverage Findings from UK's 100,000 Genomes Project
GenomeWeb |  12 November 2014
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