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NHGRI extramural programs evolve in response to the dynamic nature of genomics

Eric Green, M.D., Ph.D. August 05, 2021

As happens around this time every year, the U.S. federal government is working to establish and approve its budget for the next fiscal year, which officially begins on October 1, 2021. So far, the appropriations process looks promising for NIH, with both President Biden and the House of Representatives calling for an overall budget increase compared to the current fiscal year.

The proposed NIH budget also includes funds to establish the Advanced Research Projects Agency for Health (ARPA-H), which will aim to accelerate the pace of scientific breakthroughs for diseases by making “pivotal investments in breakthrough technologies and broadly applicable platforms, capabilities, and resources that have the potential to transform important areas of medicine and health and that cannot readily be accomplished through traditional research or commercial activity.” NIH and the White House Office of Science and Technology Policy are organizing a series of virtual listening sessions to obtain feedback about ARPA-H. Information about these sessions can be found on the ARPA-H events page. Of note, session #9, which will take place on Wednesday, August 11, will be geared toward research on genomics, biomedical engineering and imaging, and health informatics and medical libraries.

All the best,


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NHGRI extramural programs evolve in response to the dynamic nature of genomics



Starting with the Human Genome Project, the field of genomics has been associated with rapid advances and near-constant evolution, often closely tied to major surges in technologies. The latest technologies are now capable of sequencing many genomes at a time, amassing large inventories of genomic variation, and assaying the expression of every gene in multiple tissues (including under many conditions and even in a single cell). These tools allow researchers to explore biological mysteries that were untouchable just a few years earlier, ratcheting up the opportunities to tackle truly audacious research questions. To respond to these rapid advancements, NHGRI fosters an internal culture of creating management structures, strategic approaches, and funding mechanisms to accommodate the dynamic nature of this research ecosystem.

NIH aims to foster a general atmosphere for biomedical research in which potential applicants bring us their best scientific ideas in hopes of receiving NIH funding. Researchers are often aware of the NIH processes for submitting grant applications and for the peer review of those applications, but they may be less aware of the staff work performed at NIH before researchers start writing their applications as well as after the peer-review process takes place. Extramural staff members of individual institutes and centers are responsible for identifying research gaps and developing funding opportunity announcements that lay out the types of research that NIH aims to fund; later, they are also responsible for facilitating funding decisions and supporting those who receive grant funds.

The NHGRI Extramural Research Program (ERP) works to encourage, fund, and manage genomics research and training programs at universities, research institutes, and commercial entities. Stewards of the majority of NHGRI’s appropriated funds, ERP staff guide the use of this money by developing and communicating the Institute’s scientific priorities, such as through the 2020 NHGRI Strategic Vision. Like other NIH institutes and centers, NHGRI has a strong portfolio of investigator-initiated research, and the Institute has been striving in recent years to grow that investigator-initiated portfolio, with a focus on R01 and R21 awards coming in through NIH Parent Funding Opportunities or special announcements focused on investigator-initiated research (e.g., see PAR-20-254, RFA-HG-20-036, and PAR-18-844). Researchers interested in applying for investigator-initiated support are encouraged to reach out to NHGRI program staff before submitting their applications.

NHGRI program staff are also involved in designing specific funding opportunity announcements and, in partnership with grantees, participating in the execution of complex consortium-based projects. The support for consortium-based science reflects one of the “Guiding Principles” in the 2020 NHGRI Strategic Vision: “Embrace the interdisciplinary and team-oriented nature of genomics research — starting with the Human Genome Project, some of the most challenging genomics endeavors have benefited from the creation and management of large, interdisciplinary research collaborations.” The support of such research collaborations, often aimed at addressing cutting-edge areas in biomedicine, demands a nimble style that frequently adapts to changes in the genomics landscape. With this adaptation comes the end of some programs and the beginning of others.

Take, for example, NHGRI’s investment in DNA sequencing technology development and genome sequencing applications. The Genome Sequencing Program (GSP), which is currently in its last year of funding (having essentially started with the Human Genome Project), has morphed from a single set of grants to sequence the human genome, then to sequence the genomes of many different organisms, then to contribute to sequencing of cancer genomes and explore advances in genomic medicine, and most recently to sequence many human genomes as part of the study of both Mendelian and complex genetic diseases. The GSP will end in 2021; during this final stage, the program had multiple sub-components, including the Centers for Common Disease Genomics (CCDG), the Centers for Mendelian Genomics (CMG), the Genome Sequencing Program Analysis Centers (GSPAC), and the Genome Sequencing Program Coordinating Center (GSPCC). Even with the GSP ending, NHGRI will continue to support research activities in this area.

The NHGRI Genome Technology Program is active in issuing funding opportunities to stimulate advances in genomic technologies. For these efforts, the grant types and review processes are often tailored to accommodate the type of high-risk research proposals that will yield the desired technology development. Over the years, the program has issued grants for many technologies, including but not limited to those related to DNA mapping, sequencing, genotyping, gene expression, synthetic DNA, and epigenetics. Recent funding opportunities have solicited applications for generating novel synthetic nucleic acids, single-molecule protein sequencing, single-cell proteome analysis, and transformative nucleic acid sequencing.

Several years ago, NHGRI re-organized and re-focused its investment in the Human Genome Reference Program, all with an eye towards enabling the development of an improved human genome reference sequence and fostering its long-term sustainability and improvement. Meanwhile, building off the success of the Centers for Mendelian Genomics, NHGRI recently launched a new program in this area that is focused on implementing novel technologies, genome sequencing, and analytical approaches to tackle diseases whose genetic causes have been challenging to determine by exome sequencing alone (see details below).

NHGRI uses many approaches to fund and support extramural genomics research. New programs are initiated in response to emerging scientific opportunities, and these sometimes change from one funding mechanism to another as the research needs evolve. Existing programs eventually end, allowing new programs to start. Such a dynamic approach to the NHGRI extramural research portfolio helps to foster groundbreaking advances in genomics. NHGRI is excited to be planning several new programs to be launched in the next few years that specifically align with elements in the 2020 NHGRI Strategic Vision. Watch The Genomic Landscape for announcements of new funding opportunities.

New infographic showcases first gapless human genome sequence

Telomere-to-telomere infographic


In anticipation of the release of the first gapless human genome sequence by the Telomere-to-Telomere Consortium, NHGRI recently published an educational infographic that illustrates the difficulties in generating the sequence of the final missing pieces of the human genome. Efforts to generate a truly complete human genome sequence are challenged by genomic segments that contain highly repetitive DNA, which leaves gaps in the final sequence. The one-page infographic explains the challenges of sequencing highly repetitive DNA and the technological advances needed to generate a gapless human genome sequence. Using friendly and approachable visuals, the infographic is designed for a wide audience.

NHGRI announces $80 million in funding to discover genetic causes of single-gene disorders

Map of Mendelian Research Consortium sites


NHGRI has awarded nearly $80 million to support the formation of the a new consortium to significantly increase the number of single-gene disorders for which the underlying genetic cause has been established. The consortium includes five clinical sites and one data coordination center. The consortium will implement novel technologies, genome sequencing, and analytical approaches to tackle diseases whose genetic causes have been challenging to determine. Researchers will also collaborate and maintain enhanced data sharing practices to ensure that data collected can be broadly disseminated. 

NIH funding opportunity to develop cultures of inclusive excellence at NIH-funded institutions



The NIH Common Fund announced a new funding opportunity as part of the NIH Faculty Institutional Recruitment for Sustainable Transformation (FIRST) program. The NIH launched the FIRST program with the goal of enhancing and developing cultures of inclusive excellence at NIH-funded institutions and evaluating their impact. Implementing and sustaining cultures of inclusive excellence has the potential to be transformational for biomedical research at awardee institutions and beyond. This funding opportunity aims to facilitate institutions in their building of a community of scientists through recruitment and support of a cohort of early-career faculty who have a demonstrated commitment to inclusive excellence. All biomedical research areas within the NIH mission are included in this funding opportunity.

NHGRI researchers expand genomics workbook to help families assess disease risks

Families SHARE


Researchers led by Laura M. Koehly, Ph.D., Chief of the NHGRI Social and Behavioral Research Branch, have developed and expanded the Families Sharing Health Assessment and Risk Evaluation (SHARE) workbook, which helps people assess their risk for heart disease, diabetes, breast cancer, and colorectal cancer using their family history. The workbook is a tool to help encourage people to have discussions about their family health history and help them understand how that history is associated with their risk for heritable diseases. A recently published study showcases the preliminary impact of the workbook, with 70% of people who use the workbook discussing their disease risks and health history with family members. NHGRI researchers are currently working with international groups to design versions of the workbook for diverse communities.

NIH Strategic Plan outlines vision for biomedical research direction, capacity, and stewardship

NIH Strategic Plan Cover


Last month, NIH released the 2021-2025 NIH-Wide Strategic Plan, which aims to guide NIH research efforts over the next five years. The new strategic plan seeks to advance NIH’s vision for biomedical research direction, capacity, and stewardship, with a focus on five cross-cutting themes: improving minority health and reducing health disparities; enhancing women’s health; addressing public health challenges across the lifespan; promoting collaborative science; and leveraging data for biomedical discovery. The NIH-Wide Strategic Plan was developed through a collaborative process involving leadership and staff across NIH and informed by input from key stakeholders, including the research community, professional societies, advocacy groups, and the public. Learn more via the NIH-Wide Strategic Plan website.

Strategic Vision


Pursue advances in genomics as part of a vibrant global community of genomics researchers and funders — the challenges in genomics require the collective energies and creativity of a collaborative international ecosystem that includes partnerships among researchers, funders, and other stakeholders from academia, government, and the commercial sector.


“The Human Genome Project was a bold initiative spearheaded by the US and UK governments initially with the purpose of developing and freely sharing resources, knowledge, and experiences world-wide and in a timely fashion. This new approach to sharing information along with access to the internet is enabling scientists from advanced and developed nations to facilitate research in their own countries. Having taught mathematics and science in a developing country in the 60s, I was very impressed with these students’ thirst for knowledge and their wanting to have a positive impact on the future of their country. Fast forwarding to today, I know that genomics will open up opportunities for graduate students and junior scientists in under-resourced countries to view genomics as a viable career path and an opportunity to improve the health of their nation’s citizens.”

Bettie J. Graham, Ph.D. (Director, NHGRI Division of Extramural Operations)


2020 NHGRI Strategic Vision

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Session 7: September 16, 2021, 3 p.m. to 4:30 p.m. ET

Prediction: The clinical relevance of all encountered genomic variants will be readily predictable, rendering the diagnostic designation “variant of uncertain significance (VUS)” obsolete.


  • Heidi Rehm, Ph.D., Broad Institute, Harvard Medical School & Massachusetts General Hospital

  • Douglas Fowler, Ph.D., University of Washington


  • Ben Solomon, M.D., NHGRI
Learn More
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About The Genomics Landscape

A monthly update from the NHGRI Director on activities and accomplishments from the institute and the field of genomics.

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Last updated: August 5, 2021