The UK Department of Health has launched Genomics England, a new entity to deliver on the government’s promise to sequence 100,000 whole genomes by 2017.
Genomics England’s mandate is to pursue whole genome sequencing at an unparalleled scale and speed, says Professor Mark Caulfield, its chief scientist.
“The idea behind this is that it will generate clear health gains in our understanding of rare inherited disease, common cancer, and pathogen resistance,” says Caulfield, “and that it will also give us an opportunity to prime the potential for new diagnostics or new treatments, and so generate wealth.”
Prime Minister David Cameron first announced plans for sequencing the DNA of 100,000 patients over the five years in December 2012. Genomics England was formed to execute that plan. With $161 million (£100 million) in funding from the health department over five years, Genomics England will first focus on cancer and rare diseases, and will examine some infectious diseases as well in an effort to expand doctors’ understanding of disease and to provide earlier diagnosis and personalized care. It will manage contracts for sequencing, data linkage and analysis, and set standards for patient consent.
DNA will be sent to multiple sequencing centers to spur competition and drive prices down over time to make it more practical for routine use. Data from the genomes sequenced will be held by the UK’s National Health Service for use by clinicians, scientists, and companies for analysis.
At first, Genomics England will undertake two pilot programs to set the groundwork for scaling up its efforts. One will focus on rare inherited disease in 2,000 people. A second partnership with Cancer Research UK will focus on lung, breast, and colon cancers. That tie-up was announced in tandem with a government pledge to provide an additional $643 million (£400 million) funding for the UK’s Cancer Drugs Fund, which pays for cancer patients to receive treatments not yet approved for use in the NHS by the National Institute for Health and Care Excellence.
October 08, 2013
http://www.burrillreport.com/article-uk_pursues_large_scale_genomic_sequencing_project.html