Clinical OMICS

MAR-APR 2018

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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Data & Informatics 30 Clinical OMICs March/April 2018 R egeneron Pharmaceuticals and five biopharma part- ners are betting $50 million-plus that the consortium they have launched to sequence the exomes of all 500,000 contributors of samples to the UK Biobank by the end of 2019 will do more than glean new insights into how human genetic variations shape human biology and disease. Regen- eron has trumpeted the consortium as a vehicle for no less than reshaping drug development, and even human health. That reshaping has begun. Regeneron is set to complete exome sequencing of the first 50,000 of the UK Biobank's samples by the end of March through its Regeneron Genet- ics Center (RGC) established in 2014, a wholly owned sub- sidiary of the biotech giant. "As soon as we get the initial 50,000 datasets, we will begin the full throes of analysis," Aris Baras, M.D., vice president and co-head of the Regeneron Genetics Center, told Clinical OMICs. That analysis will encompass the broad sweep of diseases for which the UK Biobank has committed to improving pre- vention, diagnosis and treatment—a list that includes can- cer, heart diseases, stroke, diabetes, arthritis, osteoporosis, eye disorders, depression, and forms of dementia. "They have large-scale imaging of the liver and liver fat. Obviously, that's relevant to fatty liver disease. That will certainly be one of the traits that we look at in-depth out of the gate," Baras said. "The Biobank has lots of interesting data on visual acuity and hearing, on other imaging traits, and other biomarkers that haven't been measured else- where. And that will be in large numbers in these first 50,000 datasets. So, in addition to just analyzing everything, we'll be taking some deep dives in some of these novel and really clinically valuable and relevant traits." The 500,000 U.K. Biobank genomes will come from volun- teers ages 40-69 living in England, Scotland & Wales from 2006 to 2010. The Biobank questioned them about their health and well-being, then took baseline measures rang- ing from height, wait, and waist size, to blood pressure, and images of the back of their eyes. Participants also donated blood, urine and saliva for long-term analysis, including genetic analysis, and agreed to long-term follow up of health via health records. "Since then, we have also followed up with participants about diet, mental health, digestive health, and work history, linked to death, cancer, and hospital data," said Andrew Tre- hearne, head of communications for the UK Biobank. "We have undertaken detailed biochemistry, encouraged 100,000 to wear a week-long activity monitor, begun the genetic Sequencing will be carried out using RGC's Illumina NovaSeq 6000 sequencers, to which the Center began transitioning last year from Nova- Seq 2500 instruments. Disruptive Research Regeneron, Five Biopharmas Commit $50M to Exome Sequencing of all 500,000 U.K. Biobank Samples by 2019 By Alex Philippidis

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