Clinical OMICS

JAN-FEB 2019

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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24 Clinical OMICs January/February 2019 M uch like the dawning of social networks, it's very likely the next great trans- formation in healthcare started in a university dorm—Dawson Hall, part of Queen Mary University of London. For it is here, in the summer of 2013, that the first handful of workers for a new entity funded by the UK Department of Health called Genomics England began to lay the groundwork for the 100,000 Genomes Project. The pilot project had a wildly ambitious goal at the time of its launch: to complete 100,000 whole-genome sequences of patients—and in some cases their immediate family members. The sequences garnered from participants, recruited by England's National Health Service (NHS), were to be used to simultaneously build research cohorts in rare diseases and cancer, while also using the data to inform diagnoses and to guide clinical care. One of the driving forces behind the launch of the project was then Prime Minis- ter David Cameron, whose eldest son, Ivan, suffered from the rare genetic disease Ohtahara Syndrome—characterized by numerous and severe epileptic seizures. Ivan succumbed to the disease in 2009 at the age of six. "It did make me think there is so much more we can do to help progress in genetics and genomics and in drug discovery and understanding these things," Cameron told a packed hall at the BIO conference in 2017. "That was one of the reasons why, as Prime Minister, I commissioned this 100,000 Genomes Project and had the first sequenced genome sitting on my desk. "I thought there was a unique chance in Britain, because we could com- bine a databank of genomes, with our National Health Service," Cameron said. "If we took the genomes of 100,000 people who had rare conditions…and you could test the outcomes against what was happening in the NHS, I thought we could do some great stuff." The ultimate goal was to use the project as a proving ground that genomic medicine was not merely a pipe dream, but could be provided to all 55 million people served England's National Health Service Launches Genomic Medicine Service for all 55 Million Citizens Genomic Medicine for the Masses Chris Anderson Editor in Chief

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