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Genome Sequencing Effort in England Aims to Shape Future of Global Medicine

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The implementation of sequencing technologies from the UK's 100,000 Genomes Project has the potential to drive a revolution in medical research.

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  • 1. Pioneering Genome SequencingEffort in England Aims to Shape theFuture of Global MedicineHannes SmarasonGenome Sequencing |Personalized Medicine | Transforming Health Care

2. Exciting Times for Large-ScaleSequencing Last week, U.K. Prime Minister David Cameron announcedover 300 million ($509.4 million) in new investmentsfor Genomics England, which aims to sequence, analyze andstore the genomes of 100,000 NHS patients by 2017. The investments include about 162 million ($275.1 million)from Illumina Inc., the partner for the sequencing element ofthe project. In turn, Genomics England will pay Illumina about 78 million($132.4 million) for its services. 3. Investments in GenomesEngland At the same time: The Wellcome Trust will put 27 million ($45.8 million) intoa new sequencing hub at its genome campus in Cambridge The Medical Research Council, or MRC, is investing 24million ($40.7 million) to support data analysis andinterpretation The NHS will make 20 million ($34 million) available forthe establishment of patient sequencing centers 4. Unprecedented Collection ofData This is a prime example of how the implementation ofsequencing technologies promises to drive a revolution in thestructure of medical research. These new projects aim to capture more data on human DNAthan ever before, with the goal of advancing care and solvinghealthcare challenges. The 100,000 Genomes Project has the potential tosignificantly influence the global community through its plansto integrate sequencing data into standard medical practice. 5. Scope of the Program Genomics England plans to generate 100,000 wholegenome sequences from NHS patients with cancer,rare diseases and other conditions Will share the resulting data for research and developmentpurposes Program will also develop standards for consent,sample storage, data generation and variant analysis These may be useful for many other organizationsconducting large-scale projects within public healthsystems 6. Seeking Global Input The project is enlisting the help oforganizations from around the world toundertake this significant effort Illumina recently selected to conduct thesequencing efforts Other technologies currently being evaluated forstoring, annotating and interpreting the data sothat it can be used both for clinical diagnostics anddrug discovery, development and delivery to theright patients 7. Critical Need for Analysis The challenges of analyzing data on such alarge scale are formidable, but the end resultcarries great potential to address some of thesignificant unmet medical needs. NextCODEs technology has alreadyaccomplished analytics on this scale based onits work with the Icelandic population throughdeCODE. [see previous blog post] 8. Its an exciting prospect for advancing the futureof genomics-driven medicine and one to watch.