The National Human Genome Research Institute (NHGRI), yesterday unveiled its new strategic plan for genomics—two-and-a-half years in the making—in a paper published in Nature, “Strategic vision for improving human health at The Forefront of Genomics.”
Eric Green, M.D., Ph.D., director of the NHGRI, spoke about the process, the results, and how the vision turned out to be quite different than what had expected.
The last time Green spoke with Clinical OMICs’ sister publication GEN about the strategic plan, in the spring of 2019, the group was still in the data collection phase of the project. The process was different this time around, than the previous strategic plans published in 2003 and 2011.
A town hall style approach was adopted, to have input from as many stake holders as possible. Last May, Green told GEN that, “we realized that some approaches would likely still work but that we also needed to try new ideas—like the town halls.” He added that, “We put a high value on the actual engagement aspects of our efforts. If we hadn’t shown up in their backyard, we might have missed opportunities to learn about what is needed in the future.”
For example, Green recalls how one graduate student’s impassioned plea at a Boston town hall found its way into the plan. The student’s frustration was that different standards and processes are used to analyze different genomic datasets—something that he found frustrating and limiting to his work. “It’s not glamorous,” notes Green, but it was really important. The student proved convincing, and his points made it into the plan as the guiding principle to “promote robust and consistently applied standards in genomics research.”
This round of strategic planning, explains Green, “felt very different.” They saw a striking heterogeneity, he explains, when they tried to organize the different thoughts and ideas that they had collected, into bigger concepts. The reason for that, he notes, reflected something that they had been considering all along. The messages coming from the community were different facets of “responsible stewardship.” The field emphasized that making sure the foundation was strong was just as important as developing cool genomic technologies.
This, it occurred to Green, is what it means to be at the forefront of genomics.
When they looked at the plan through that lens, Green explains, there was an “aha moment” accompanied by a certain authenticity. Because, he asserts, “you have to be as concerned about the principles and values that guide your field, as you are about the barriers to knock down or the actual research projects.”
For Green, this is the culmination of genomics, “growing up as a field”. And, he admits, when he started this 32 months ago, he would, “never have anticipated that we were going to land there.”
The focus on diversity is sewn throughout the plan, with “strive for global diversity in all aspects of genomics research, committing to the systematic inclusion of ancestrally diverse and underrepresented individuals in major genomic studies” and “champion a diverse genomics workforce” as guiding principles and values.
The vision includes four focus areas. The first, “guiding principles and values for human genomics” comprises nine major points that and values that provide a guiding compass for human genomics.
Then, three more focus areas are described; sustaining and improving a robust foundation for genomics research; breaking down barriers that impede progress in genomics and compelling genomics research projects in biomedicine.
In these last three areas, the vision describes more than 20 key challenges that reflect critical foundational elements for the genomics enterprise to thrive. Breaking down these barriers would benefit genomics more broadly and drive research. Some specific innovations that Green mentions surround topics like genome editing and genome synthesis. Not the science behind those technologies, but the ability to transform the scale at which they are done. In addition, computational breakthroughs are critical as datasets increase in size. Similarly, Green points to genomic medicine and the importance of implementation science—the ability to implement practices in all health care systems from big academic centers to rural clinics.
When Green spoke to GEN a year and a half ago, he noted that he wanted the strategic plan to be inspiring—about “the big ideas and goals”. Although Green asserts that he finds much of the plan inspiring, he points specifically to the inspiration found in the last section of the plan; the 10 bold predictions.
Green says that they “had a lot of fun with them.” They are meant to be “inspirational, aspirational and to yield debate and creativity and what might be possible.” If you’re curious as to what may happen in genomics over the next ten years, see the predictions below.
The best laid plans and COVID-19
The plan’s writing was well underway when COVID-19 hit. Thankfully, the town halls were all completed and the paper was taking shape. But, the intersection of genomics and the pandemic could not be ignored. So, an epilogue was added to illustrate the highly disseminated nature of genomics research is woven into much of the current research being done on COVID-19. Green notes that from the technologies to the principles and values around data sharing and strategic ideas about large scale studies are a foundation of the COVID-19 research being done today.
For Green, the emphasis on responsible stewardship in the strategic plan is the culmination of genomics “growing up as a field”. And, he admits, when he started this 32 months ago, he would “never have anticipated that we were going to land there.” Which is fitting for a leader in genomics—a discipline where anticipating the ever-shifting direction of the field is certainly a fool’s errand.
TEN BOLD PREDICTIONS
- Generating and analyzing a complete human genome sequence will be routine for any research laboratory, becoming as straightforward as carrying out a DNA purification.
- The biological function(s) of every human gene will be known; for non-coding elements in the human genome, such knowledge will be the rule rather than the exception.
- The general features of the epigenetic landscape and transcriptional output will be routinely incorporated into predictive models of the effect of genotype on phenotype.
- Research in human genomics will have moved beyond population descriptors based on historic social constructs such as race.
- Studies that involve analyses of genome sequences and associated phenotypic information for millions of human participants will be regularly featured at school science fairs.
- The regular use of genomic information will have transitioned from boutique to mainstream in all clinical settings, making genomic testing as routine as complete blood counts.
- The clinical relevance of all encountered genomic variants will be readily predictable, rendering the diagnostic designation ‘variant of uncertain significance (VUS)’ obsolete.
- An individual’s complete genome sequence along with informative annotations will, if desired, be securely and readily accessible on their smartphone.
- Individuals from ancestrally diverse backgrounds will benefit equitably from advances in human genomics.
- Breakthrough discoveries will lead to curative therapies involving genomic modifications for dozens of genetic diseases.