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NHGRI Outlines a Path Toward the Implementation of Genomic Medicine


Strategic plans go back a long way in the genomics field. The first plan mapped the path for sequencing the human genome, followed by slight recalibrations as the work and technology advanced. The next big plan centered on what to do after the human genome was completed. That, National Human Genome Research Institute Director Eric Green says, "served the field well," though it eventually became dated. "We looked at it and said, 'Wow, it's getting a little gray,'" Green says. "Once again, technology — sequencing in particular — has advanced much more than we ever anticipated. We talked about how it would be exciting if it happened, but we never thought it would happen this aggressively." NHGRI's new plan looks forward to a future that includes genomic medicine.

A little more than two years ago, the institute began to think about developing a new plan, with input from within NHGRI as well as from other investigators in the field in the US and abroad. This new vision for the next few years of genomic research, which was outlined in a February Nature article, covers five domains that range from basic biology to clinical applications. These include genomic structure, genome biology, disease, the science of medicine, and the effectiveness of health care. "What I would say those five domains describe are progressive areas that gets you closer to clinical applications, including clinical care," Green says.

The plan also emphasizes three additional areas of interest that are important across those five domains: informatics, education, and societal implications. "By no means are those five areas comprehensive in and of themselves. There is a multidimensional aspect to it," Green adds.

Work in these areas is already underway, he says, citing cancer genomics and sequencing projects as well as microbiome studies. In addition, the large-scale sequencing program at NHGRI is being renewed and re-competed this year, and public requests for information on that program are out now. Green says that all those program announcements are in areas that are increasingly disease-oriented and clinically oriented. "Those went out independently of the strategic planning process, but not surprisingly, the notion of using new sequencing technologies for disease characterization and for clinical applications came to the forefront — and we knew it would," he says.

Though the impact of the plan will vary with the audience, Green says he hopes it inspires young researchers to apply genomics to their benchwork, and in the clinic.

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