Outside Voices: National Human Genome Research Institute Director Eric Green, MD, PhD
September 2019
ASHG: You have reflected on how essential strategic planning has been to NHGRI’s achievements over the past three decades. What’s changed the most from the institute’s early plans to today’s? What are some exciting or thought-provoking questions so far from today’s community?
Dr. Green: The most significant difference between NHGRI’s early efforts in strategic planning and that being done today relates to scope. Until 2003, NHGRI’s strategic planning largely focused on achieving the relatively narrow goals of the Human Genome Project. But immediately following the completion of the Human Genome Project – now 16 years ago – the scope of NHGRI’s research mission began to expand. As featured in the Institute’s 2011 strategic plan and to be further emphasized in our 2020 strategic plan, the scope of NHGRI’s strategic vision is remarkably broad – it now spans from understanding the most basic aspects of genome structure and function to tackling the complexities of implementing genomic medicine, punctuated with multiple sub-niches of important research areas along the way (e.g., technology development, computational genomics, and bioethics).
Among the most thought-provoking questions being raised during the most recent round of strategic planning are those related to personal and ethical issues that arise as genomic information becomes relevant for everyday life, including for health care. While studying the ethical, legal, and social implications of genomic advances has always been part of NHGRI’s mission, the complexity of those implications seems to continually grow, especially as genomics becomes part of routine clinical care.
ASHG: Past plans generated unique trans-field programs like the Genome Technology Program, 1000 Genomes, and ENCODE: core programs that guide and support the genetics and genomics research enterprise. NHGRI has also sparked a diffusion of genetics and genomics into every research field. Can you share early insights about possible needs for unique NHGRI leadership and how are you thinking about NHGRI’s complementary role to other IC funding for genetics and genomics research?
Dr. Green: NHGRI prides itself on providing leadership for major research programs that produce important technologies and resources for the broader biomedical research community, such as the Genome Technology Development Program, 1000 Genomes, and ENCODE, to name a few. Efforts such as these have catalyzed the broad diffusion of genomics into nearly every area of life sciences research.
In fact, genomics research is now supported by almost all parts of the NIH. For example, whereas NHGRI was previously responsible for supporting more than 95% of human genomics research funded by NIH (e.g., up until the end of the Human Genome Project), that number is now down to less than 15%. Understanding this changing role for NHGRI has been a key theme for the current round of strategic planning; no longer the sole funder of genomics research at NIH, the Institute seeks to define its role ‘at the forefront’ of genomics.
As genomics research become more pervasive across NIH and biomedicine, collaboration and data sharing become more important than ever, both nationally and internationally. NHGRI remains laser-focused on identifying research projects that will accelerate progress in genomics and ensure that the data generated, scientific knowledge gleaned, and lessons learned from those projects are disseminated to all researchers whose work can be advanced using genomic approaches and methods.
ASHG: ASHG recently completed its own strategic plan and enhancing diversity and inclusion is a top goal. We’re focusing on increasing diversity in the genetics and genomics research workforce and promoting research participation that can provide a more representative data foundation for addressing health disparities. We’re pleased to be partnering with NHGRI on some of these efforts already. How is NHGRI exploring these issues in its plan?
Dr. Green: NHGRI is delighted to be working with ASHG to advance diversity and inclusion in genetics and genomics through initiatives such as the Human Genetics Scholars Initiative.
We anticipate that the Institute’s 2020 strategic plan will articulate some guiding principles and core values for NHGRI that are fundamental to our mission. Enhancing diversity across genomics will be among those values. This includes the ways in which we prioritize research; how and where we develop and implement technologies; how we make available large datasets and compute resources; and how we develop the genomics workforce.
ASHG: You recently led an important Capitol Hill briefing about genetics and genomics research for the Congressional Biomedical Research Caucus. What is most important for public leaders to know about the progress and directions for genetics and genomics, and the roles of NIH and NHGRI?
Dr. Green: The field of genomics has advanced dramatically since the launch of the Human Genome Project three decades ago. The cost of DNA sequencing has been reduced by over a million-fold; hundreds of thousands of human genomes have now been sequenced and many tens of millions of genomic variants have been catalogued; there has been remarkable progress in understanding how the human genome functions and in unraveling the genomic bases of human disease; and genomic medicine has become a reality instead of just a possibility.
Moving forward, we still have a long way to go to fully understand the human genome and to optimize the clinical use of genomic information. To reach that goal, we must increase the diversity of genomes being studied to be reflective of the world’s populations. NHGRI is actively working towards this goal in multiple ways, including requiring minimum levels of underrepresented participant enrollment into our research projects and funding designated research sites that serve underrepresented or underserved populations.
Understanding the impact of genomics on society is also of critical importance, and, in fact, NHGRI has a division dedicated to research on genomics and society. In the early days of the field, only biomedical researchers found genomics relevant. Now, researchers, healthcare workers, patients, friends and families of patients, and consumers of commercial genetic tests are interested in genomics – that’s nearly everyone.
Lastly, it is important to remember that human health is influenced by a mix of one’s genome, lifestyle, and environment. Understanding how these factors combine and interact will lead to more precise approaches for practicing medicine.
ASHG: We’re looking forward to the plan’s release in October 2020. What input are you seeking at this stage and how can the field participate next?
Dr. Green: Since February 2018, NHGRI has engaged with experts and diverse public communities around the world to gather input for shaping NHGRI’s strategic vision ‘at the forefront’ of genomics.
Throughout this process, we have offered a multitude of ways for researchers and the public to contribute ideas – from email and social media to town halls and satellite meetings at scientific conferences. I encourage ASHG members to continue to share their thoughts with NHGRI leadership and staff. Please visit our strategic planning page on genome.gov and also consider stopping by the NHGRI exhibit booth #227 at the ASHG 2019 Annual Meeting – we welcome your questions and ideas!