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New Genome Sequencing Program Aims to Move Discoveries Closer to the Clinic


With a newly remodeled genome sequencing program, the US National Human Genome Research Institute is aiming to expand into the clinic. NHGRI is making awards totaling $416 million over four years, which the agency says will allow it to pursue its strategic plan toward genomic medicine.

The recent funding announcement, made in December, follows that plan by continuing to support basic research at the three large-scale genome sequencing centers at the Broad Institute, Washington University in St. Louis, and Baylor College of Medicine. But it also funds a Mendelian disease program, clinical sequencing projects, and a program to develop informatics tools for use outside the major sequencing centers.

"There have been some remarkable medical successes for genomics, but genome sequencing has yet to find its way into standard medical practice," said NHGRI Director Eric Green during a telebriefing with reporters. "We continue to believe that this is coming, but before it can, we still have a tremendous amount to learn and to develop through genomics research."

In the new Genome Sequencing Program, the large-scale genome -sequencing centers will continue to receive the largest portion of funding — $86 million a year — to support basic research, studies of complex diseases, and projects like The Cancer Genome Atlas.

But two new efforts have more of a medical bent. One program will support research on single-gene Mendelian disorders. NHGRI and the National Heart, Lung and Blood Institute will give $48 million over four years to three centers at the University of Washington, Yale University, and a Baylor-Johns Hopkins collaboration to use sequencing approaches to study such diseases.

The second, the Clinical Sequence and Exploratory Research Projects Program, will receive $40 million over four years from NHGRI and $8 million from the National Cancer Institute to figure out how best to move genomic research and discoveries to the clinic. Those grants have gone to groups at Baylor, Brigham and Women's Hospital, Children's Hospital of Philadelphia, University of North Carolina, Chapel Hill, and UW.

Finally, NHGRI is investing $20 million over four years to develop software tools for the wider genomics community. "As the price of -genome sequencing has plummeted, we have come to appreciate that the new bottle-neck is data analysis. As small labs use the new DNA sequencing instruments, they quickly discover that assimilating and understanding the generated data could be very challenging," Green said.

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