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Medical News and Perspectives
January 11, 2012

NIH Shifts Focus From Sequencing Genes to Fostering Clinical Applications

JAMA. 2012;307(2):132. doi:10.1001/jama.2011.1925

As the cost of sequencing an individual's whole genome quickly closes in on a value that could make it feasible to use such tests in a clinical setting, the National Human Genome Research Institute (NHGRI) is shifting funds from large-scale sequencing projects to studies of potential clinical applications of sequencing.

In December, leaders from the NHGRI announced a plan to invest more than $400 million in such projects over the next 4 years, which will come from funds previously dedicated to large-scale sequencing efforts and redirected to translational projects, said NHGRI Director Eric D. Green, MD, PhD, during a press briefing. Such projects will include ongoing basic research at large-scale sequencing centers, an effort to use genomics to identify the genetic basis of Mendelian disorders, projects probing how clinicians might use sequencing technology in practice, and the creation of software to allow more scientists to analyze genomic data.