Pharma supports UK genomics effort

Several pharmaceutical companies have formed a coalition to help the UK government bring its 100,000 Genomes Project to fruition.

Ten companies – including UK-based pharma majors AstraZeneca (AZ) and GlaxoSmithKline – have joined forces with Genomics England and academic partners to “accelerate the development of new diagnostics and treatments” arising from the initiative.

The industrial partners will provide seed funding and scientists to work on the project, which was first launched in 2012 and has resulted in the sequencing of around 3,000 genomes to date.

“This partnership brings together over 4,000 UK clinicians and scientists as well as over 500 international collaborators at the forefront of genomic medicine,” said Genomics England’s chief scientist Professor Mark Caulfield.

The overall objective is to hit the 100,000 genomes target by 2017, rivalling the number of sequences in a similar project – undertaken in Iceland by Amgen subsidiary deCODE Genetics. The consortium members will have access to information from 5,000 whole genomes collected, according to AZ.

The industry’s involvement will be for one year in the first instance, according to Genomics England. The organisation’s executive chairman Sir John Chisholm said the partnership “will explore how companies, clinicians and researchers can work together on the 100,000 Genomes Project – giving us a platform to expand and build upon.”

The power of these population-wide sequencing efforts can be seen in papers published in Nature Genetics this week, which reveal that the Icelandic study has started to identify new risk factors for diseases including Alzheimer’s, atrial fibrillation and liver and thyroid disorders.

Genomics England also announced more detail today on how clinicians and scientists will partner with the project, noting that 28 teams or ‘domains’ will be set up to focus “not only on a vast range of disease areas, but also analytical and social sciences”.

The domains will be overseen by the Genomics England Clinical Interpretation Partnership (GeCIP), a structure that is aimed at identifying new scientific findings and medical discoveries from the 100,000 genome dataset as they emerge.

Among the domains approved by the GeCIP are projects covering: rare diseases; cancers; functional effects of gene expression; electronic health record (EHR) research; ethics, law and social science; and health economics. A dedicated team will also focus on validation of the findings and provide feedback.

“Our commitment to the 100,000 genomes project gives us the opportunity to work side by side with leading scientists from different disciplines to better understand how complex data coming out of the project can be converted into innovative treatments and diagnostics,” commented Dr Mene Pangalos, AZ’s executive vice president of innovative medicines and early development.

Other companies in the GENE Consortium include Roche, AbbVie, Biogen, Alexion, Dimension Therapeutics, Helomics, Takeda and UCB.

Earlier this month, the first two patients enrolled in the 100,000 Genomes Project were diagnosed through whole genome sequencing, paving the way for an expansion of the ground-breaking programme.

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First patients diagnosed in 100,000 Genomes Project

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