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NHGRI Lays Out Strategic Vision, Future Priorities for Genomics Research

NEW YORK – Researchers at the National Human Genome Research Institute (NHGRI) led by Director Eric Green published a paper in Nature on Wednesday in which they laid out a strategy for advancing cutting-edge human genomics research, with an emphasis on health applications.

The NHGRI has developed strategic visions for the genomics field each time it has reached key inflection points — specifically, at the end of the Human Genome Project in 2003 and again at the beginning of the last decade in 2011. These vision papers were meant to outline the most compelling opportunities for human genomics research and were informed by a multi-year engagement process in each case, the researchers said.

For the new decade, the NHGRI aimed to develop an updated strategic vision for human genomics research, engaging in more than 50 events such as dedicated workshops, conference sessions, and webinars to collect input from stakeholders. This round of strategic planning was specifically focused on the nature of genomics across biomedicine.

Among the important considerations surrounding genomic research that the NHGRI team considered were the ethical, legal, and social implications (ELSI), which were established at the beginning of the Human Genome Project to ensure that the eugenics movement and other misuses of genetics are not repeated. In the future, they said, ELSI research needs to focus on aspects of genomic medicine implementation that present challenging questions about legal boundaries, study governance, data control, privacy, and consent. Complex societal issues must also be studied, including the expanded application of genomics in areas such as ancestry testing, law enforcement, and tests marketed to consumers.

In the near-term, the NHGRI researchers said their discussions with stakeholders showed that expectations for genomics included enhanced capabilities for generating high-quality and complete genome sequences and continued refinement and enhanced utilization of human genome reference sequences that reflect human variation and diversity.

Sequencing technologies will also need to be several orders-of-magnitude less expensive and enable single-cell resolution at distinct spatial locations within tissues longitudinally over time. Further, the researchers said, these genomic data should be integrated with other multi-omic data in sophisticated ways, including methods that collect many data types from a single sample. The analysis of these complex and heterogeneous data types must then expand to include the integration of environmental, lifestyle, clinical, and other phenotypic data.

The NHGRI authors also put an emphasis on the growing sophistication of data science, noting that all major genomic breakthroughs so far have been accompanied by the development of new statistical and computational methods. Accordingly, they said, continued innovations in both traditional and advanced methods, such as machine learning and artificial intelligence, should be a priority for the research community. These approaches also should be considered for integration into studies from the early planning stages all the way through to data collection and analysis.

Next, the researchers discussed the importance of understanding the role of genomics in human society, and knowing how social, environmental, and genomic risk factors interact to produce health outcomes. Given that such interactions are not well understood, it is crucial that studies of genomic risk, especially of common and multigenic diseases, account for social and environmental factors that influence health, they said.

Partnering with communities and individuals is fundamental to engaging participants in large-scale research, such as the All of Us research program, which is crucial to gathering the data that's needed to better understand the confluence of these factors. Genomics researchers must incorporate models and methods of community engagement in their experimental design, according to the NHGRI authors.

The researchers also put particular emphasis on the importance of implementation science approaches, which are needed to identify the most effective methods and strategies for facilitating the use of evidence-based genomic applications in routine clinical care. New experimental designs, such as genotype-specific participant recruitment or integration of patient-provided genomic data should be explored for their potential to speed adoption and limit costs, they said.

Finally, the researchers crafted a list of 10 aspirational predictions for human genomics that might come true by 2030. "Although most are unlikely to be fully attained," they wrote, "achieving one or more of these would require individuals to strive for something that currently seems out of reach."

First is that generating and analyzing a complete human genome sequence will be routine for any research lab; second, that the biological functions of every human gene will be known, especially for non-coding elements; third, that the general features of the epigenetic landscape and transcriptional output will be routinely incorporated into predictive models of the effect of genotype on phenotype; fourth, that human genomics research will have "moved beyond population descriptors based on historic social constructs such as race;" fifth, that studies involving analyses of genome sequences and associated phenotypic information for millions of human participants will be regularly featured at school science fairs; sixth, that the regular use of genomic information will be mainstream in all clinical settings; seventh, that the clinical relevance of all genomic variants will be readily predictable, rendering the diagnostic designation "variant of uncertain significance" obsolete; eighth, that an individual's complete genome sequence along with informative annotations will be securely and readily accessible on their smartphone; ninth, that individuals from ancestrally diverse backgrounds will benefit equitably from advances in human genomics; and tenth, that breakthrough discoveries will lead to curative therapies involving genomic modifications for dozens of genetic diseases.

"The final words of this strategic vision were formulated as the world moved urgently to deal with the coronavirus disease 2019 (COVID-19) pandemic, providing a vivid reminder of the need to be nimble and the importance of nurturing all parts of the research continuum — from basic to translational to clinical — for protecting public health and advancing medical science," the authors concluded.