As the role of genomics in biomedical research continues to evolve, so too will the role of the National Human Genome Research Institute (NHGRI), Director Eric Green, MD, PhD, told local genomics researchers at Massachusetts General Hospital earlier this month.

With genomics now touching on all aspects of biomedicine, more genomics-based research projects are being funded by other institutes within the National Institutes of Health (NIH), Green said. Where the NHGRI was once the primary source of funding for genomics research, it will soon be funding only 10% of the total genomic research within the NIH.

In this more targeted role, the NHGRI will prioritize projects that seek to advance the leading edge of genomics research and technology and work to ensure that the findings from genomic research are integrated into clinical care effectively and fairly, Green said.

Green and the leadership team from the NHGRI visited Mass General to gather feedback on the NHGRI’s 2020 strategic plan, which is now in development. The Boston/Cambridge area, and specifically Mass General, was selected for its large concentration of genomic research leaders in academia and biomedicine.

“There’s a lot of excitement and a fair bit of anxiety of where these programs will go, what this research program will look like at NHGRI, and what future initiatives will be developed here in Boston, as we are deeply entrenched in many of the NHGRI-led programs,” said moderator Michael Talkowski, PhD, an investigator in the Center for Genomic Medicine at Mass General and the Desmond and Ann Heathwood MGH Research Scholar. 

“I think we’re excited about where we can go when we can start to apply genomics at very large scale,” Talkowski added.

Among the 2020 goals presented by the NHGRI are to:

• Establish the functional consequence of all genetic variants affecting human health and disease
• Determine the genomic architecture of human diseases and traits
• Develop methods and analyses to support use of non-sequence genomic data for characterizing human health and disease
• Transform how we assemble sample sets for genomic studies of human disease
• Ensure that genetic diversity is represented in all large-scale genomic analyses

“The context is very much a challenging one, in part because of the history of genomics and a very rapidly changing ecosystem, Green said. “This makes it even more important that we do some strategic planning, hear from the community and try to get it right as we articulate this vision of what genomics is going to be about in the next decade.”

You can learn more about the NHGRI’s 2020 Vision for Genomics on the institute’s website, and join the conversation using the #Genomics2020 hashtag on Twitter.

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