June 3, 2016

Leading the Way with the 100,000 Genome Project

By Jeff Briggs

Panel 7

England has always been a leader in genomic research and precision medicine.

Working at Cavendish Laboratory at the University of Cambridge, England, American biologist James Watson and English physicist Francis Crick discovered the structure of DNA in the 1950s, with the help of some crucially important X-ray crystallography work by English researchers Rosalind Franklin and Maurice Wilkins. One of the most significant scientific findings of the 20th century, this discovery laid the groundwork for much of the research into the genome for the next fifty years.

 Crick and Watson won the Nobel Prize for discovering the double helix structure of DNA, and it was a British double Nobel Prize winning scientist, Fredrick Sanger, who discovered how to sequence it.

 Now England is doing it again. 

Mark Caulfield

Dr. Mark Caulfield

Two years before President Barack Obama announced his Precision Medicine Initiative, England took the lead on sequencing the genome. In late 2012, British Prime Minister David Cameron announced the formation of Genomics England and the 100,000 Genomes Project, to bring the predicted benefits of genomics to patients. With plans to sequence 100,000 whole genomes by 2017, the project will focus on patients with a rare disease and their families, and patients with cancer.

Genomics England, a company wholly owned and funded by the national Department of Health, has four main goals: to create an ethical and transparent program based on consent; to bring benefit to patients and set up a genomic medicine service for the National Health Service; to enable new scientific discovery and medical insights; and to kick start the development of a genomics industry in the United Kingdom.

Now, England is again bringing its experience and expertise across the pond. Mark Caulfield, FMedSci, is chief scientist for Genomics England and charged with delivery of the 100,000 Genomes Project. A recognized leader in genomic research, Dr. Caulfield joins the plenary speaker line-up for Individualizing Medicine 2016: Advancing Care Through Genomics. Hosted by the Center for Individualized Medicine, the fifth annual genomics conference takes place October 5–6, in Rochester, Minn., home of Mayo Clinic.

“It takes an average of 17 years for discoveries to translate from the bench into having a health-care impact,” Dr. Caulfield said, in an interview with Nature.  “We are seeking to do this in three years. You maximize your opportunity to do that if you juxtapose the health system and the researchers. For people who fund research, this is a hugely effective and efficient way of doing it.

“So I see this as a platform not just for a unique transformation of the UK health-care system,” he added, “but as a model for health-care systems around the world.”

FinalREGISTERNOWPCARDThat model — with variations, of course; after all, we are Americans — has now been launched in the U.S. In 2015, President Obama announced the Precision Medicine Initiative that includes two components: one focusing on cancer genomics and treatment, and one focusing on generating data on long-term health and disease in a national cohort research study of one million or more people. The National Institutes of Health recently selected Mayo Clinic to serve as the national Precision Medicine Initiative Cohort Program biobank.

Also, joining us at the conference will be Kathy Hudson, deputy director for Science, Outreach and Policy at the National Institutes of Health, and Teri Manolio, M.D., Ph.D., director, Division of Genomic Medicine, National Human Genome Research Institute.

The conference focuses on how to translate the promise of genomic medicine into better patient care. Experts in the field will offer updates on cancer research, on the latest discoveries in pharmacogenomics and what is happening with the NIH Precision Medicine Initiative.

Focused breakout sessions and case studies will go into the details of research and their application to every day care in areas such as epigenomics, the microbiome, biomarker discovery, and more.  Experts in the field will be on hand to share their insights and experience.

For a complete schedule, visit the conference website.

For a complete list of speakers, visit the conference speakers.

Save $100 on conference fees by registering now. Early bird registration runs through June 30. 

Follow conference developments on the Center for Individualized Medicine blog; on Facebook; or on Twitter, at @MayoClinicCIM and #CIMCon16.

You may also learn more about the conference on our video blog series, “Story by Story.”  Captured on the Gonda elevator by our mad videographer, Individualizing Medicine Conference Director Caer Vitek talks about this year’s conference, what’s new, what’s exciting and why it’s the state-of-art genomics conference you can’t miss.

Tags: #CIMCon16, 000 Genome Project, 100, 100K Genome Project, center for individualized medicine, Dr. Mark Caulfield, genomics, Genomics England, IM Conference, individualized medicine, Individualized Medicine Conference 2016, Precision Medicine, Uncategorized

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