Eric Green, MD, PhD, Shares a Sneak Peek of the 2020 NHGRI Strategic Vision

National Human Genome Research Institute Director Eric Green, MD, PhD

With innovative technologies, exciting new advances, and growing public interest, research in genetics and genomics continues to expand and evolve rapidly. As the world’s largest genetics and genomics society, ASHG has an important role in highlighting important new developments in the field. The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), has been a close partner in these efforts since its inception in 1989 to lead the U.S.’s contribution to the Human Genome Project, the first effort to sequence the entire human genome.

Now, NHGRI is looking forward with a 2020 vision for the future of genetics and genomics research. ASHG spoke with NHGRI director Eric Green, MD, PhD, about the new NHGRI Strategic Vision, which will be published in October 2020. The new NHGRI vision will be the third of its kind; NHGRI’s first institute-specific planning efforts coincided with the end of the highly focused Human Genome Project in 2003, followed by an updated vision in 2011 as a guide for the first forays into genomic medicine. Dr. Green joined NHGRI in 1994 and was the institute’s Scientific Director and Chief of the Genome Technology Branch during the first Strategic Vision’s creation. He became the Institute’s Director during the second planning process in 2009. “All three strategic planning processes have been incredibly different,” he said. “When we started the creation of this latest vision, we appreciated that unlike when the previous two visions were written, genomics has been widely woven into the fabric of biomedical research. Our planning for this new vision required much deeper and broader engagement, not just with research communities but also with healthcare communities and others to deal with the permeation of genomics everywhere. Far more extensive engagement was required this time.”

Due to this extensive integration of genomics into many areas of biomedical research, NHGRI had an opportunity to re-define itself. The institute no longer funds the majority of human genomics research at NIH, as other NIH institutes and centers have started using genomics in the study of cancer, neurobiology, and a large range of diseases. Instead, NHGRI now aims to support research at ‘the forefront of genomics,’ which Dr. Green emphasizes will “enable all to continue benefiting from the powerful tools that genomics has to offer.”

The 2020 Strategic Vision will rest on a four-component framework, which reflects NHGRI’s focus on the most cutting-edge opportunities in human genetics and genomics research:

  • Responsible Stewardship – Guiding values and principles for conducting responsible, ethical research in genomics
  • Foundational Resources – Maintaining and improving the crucial standards and technologies used by the research community for their genomic studies
  • Breaking Barriers–Taking calculated risks to reach new heights and create new paradigms that can benefit everyone
  • Audacious Research – Taking responsibility for funding and supporting new compelling research areas in human genetics and genomics

In addition to defining its role as a major supporter and funder of these core areas, NHGRI also makes 10 bold predictions for the coming decade. Though Dr. Green could only hint at what these might be, he emphasized that “the majority of them may not come true in the next decade because they are so bold and ambitious. However, if two or three of them do come true, then we will have done a really good job.” In a way, these predictions are challenges for the research community – much in the same vein as the call to be able to sequence an entire human genome for less than $1,000 put forth in the first Strategic Vision in 2003. In order to achieve these exciting advances, the four key components address prior difficulties in the genetics and genomics enterprise, as well as failures in areas such as diversity – not just in the workforce, but also in representation of research participants. “There are barriers, including a lack of trust by certain communities, and we have to work to build that trust, to remove those obstacles, to bring in those participants, to generate that data, and to then come full circle to show that genomic medicine can benefit those communities. We must do better if we’re going to see genomics benefitting all, not just those of European descent,” Dr. Green said.

Increasingly, genomics is being integrated into clinical care and influencing the public’s view of science, health, and identity. NHGRI’s new vision for genomics is inclusive and seeks to create opportunities for all to benefit. Dr. Green’s hope is that this exciting vision for genomics will inspire future scientists and clinicians. He appeals to young people from high school to graduate school to read the vision, as “we need folks from all nooks and crannies coming together and working in team environments to realize the vision. We need their expertise to move the ball forward.”

While NHGRI has taken the lead role to establish and implement its Strategic Vision, it also relies on other partners within the science ecosystem to help achieve the articulated goals. ASHG will continue to partner with NHGRI on efforts to improve workforce diversity, train the next generation of genomics professionals, and connect the research community with the latest cutting-edge discoveries. Uniquely, ASHG can supplement these federal activities from a different angle, which can include public policy and advocacy. ASHG and other professional societies, universities and other academic institutions, industry, and federal sponsors like NHGRI are all critical partners in tackling the most important issues in genetics and genomics research.

To stay updated on the latest in the NHGRI Strategic Planning process, visit Expect the full strategic vision with everything from the four-component framework to the 10 bold predictions to be published in late October 2020.

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