NHGRI’s Strategic Vision: A Bold Future for Human Genomics

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Imagine a world in 2030 in which examining a human genome sequence in a research lab becomes as commonplace as conducting a DNA purification. In Nature, Eric D. Green, MD, PhD, and colleagues at the National Human Genome Research Institute (NHGRI) make this forecast and nine others in describing the future applications of human genomics in laboratories and beyond. Many of these 10 bold predictions “speak to genomics becoming commonplace in clinical care. We need the entire clinical community to help us achieve these ambitious goals,” Green, NHGRI’s director and the article’s corresponding author, told CLN Stat. Genomic medicine is an important part of this strategic vision and includes a major role for laboratory medicine, he added.

Three decades after the Human Genome Project’s inception, genomics has taken on an increasingly important role in basic and translational research, and has the capacity to transform clinical care. It’s anticipated that genomics will gradually become a larger part of mainstream medical and public health practice, as technological advancements and biological findings evolve.

“Recognizing the dynamic nature of genomics, it was important for us to start the new decade with a strategic vision that accounted for the near-ubiquitous role of genomics in biomedical research and embraced NHGRI’s leadership at the forefront of genomics,” said Green. The vision framework comprises four areas:

• Guiding principles and values.
• Robust foundation for genomics.
• Breaking down barriers.
• Compelling genomics research projects.

NHGRI’s strategic vision statement also includes nine guiding principles and values for human genomics, which emphasize a diverse genomic workforce, robust and consistent applied research standards, and a team approach to genomics research.

Green and his co-authors describe how genomic data sharing and new genomic technologies are transforming medicine. “These technological advances are an increasingly essential tool for clinical labs and research facilities alike,” noted Green. Specifically in the arena of lab and computational technologies, progress in genome editing and DNA synthesis has transitioned genomics from just reading DNA to writing and editing DNA.

“Despite recent triumphs, however, the current approaches are limited in their ability to interrogate genome function at the pathway or network level and to study important phenomena, such as gene regulation and chromosome organization and mechanics, that involve factors that act across large chromosomal (or genomic) distances,” wrote Green and his co-authors.

To break down barriers that stifle progress in genomics, labs and computational technologies must “transform the study of the functional consequences of genomic variation by enhancing the scale of DNA synthesis and editing,” and use emerging datasets for genomic studies of human health and disease to their fullest potential, noted Green and colleagues.

Looking ahead, NHGRI lists 10 events about human genomics that may become reality by 2030:

• Human genome sequencing generation and analysis will become routine in research labs.
• Every human gene’s biological function will be known and knowledge will be the rule rather than the exception for non-coding elements.
• General features of the epigenetic landscape and transcriptional output will be a routine part of predictive models of the effect of genotype on phenotype.
• Human genomics research will no longer rely on race or other historic social constructs.
• School science fairs will regularly feature analyses of genome sequences and associated phenotypic information for millions of human participants.
• Genomic testing will become as routine as complete blood counts due to regular, mainstream use of genomic information in all clinical settings.
• The diagnostic designation “variant of uncertain significance” will become obsolete, as clinical relevance of all encountered genomic variants becomes readily predictable.
• Smartphones will securely contain an individual’s complete genome sequence along with informative annotations.
• People from ancestrally diverse backgrounds will benefit equally from human genomics advancements.
• Curative therapies involving genomic modifications for dozens of genetic diseases will be discovered.

“Although most are unlikely to be fully attained, achieving one or more of these would require individuals to strive for something that currently seems out of reach,” the authors conceded. These predictions serve as a starting point for future inspirations and conversations.

Genomics have also been critical in deploying DNA- and RNA-sequencing diagnostic technologies for COVID-19. The technology can help study the virus’ virulence and pathophysiology, vaccine efficacy and treatment response, and “adherence to principles and values related to open science, data sharing, and consortia-based collaborations,” wrote Green and colleagues.

NHGRI obviously didn’t have COVID-19 and pandemics on the radar more than 2 years ago when the institution began crafting the strategic vision document, Green said. “However, the field was poised to help with the current pandemic because of the fundamental role that genomics plays in virtually all areas of biomedical research. Recognizing the interest in knowing how genomics connects with COVID-19, we added an epilogue to the strategic vision paper that briefly summarizes how genomics is helping the world deal with this public health emergency.”