NHGRI publishes new strategic vision for human genomics

NHGRI has an established history of conducting strategic planning processes that first engage the genomics community and then produce published strategic visions. These routines were first implemented in collaboration with the other funders associated with the Human Genome Project. Following completion of the Project, NHGRI began developing its own strategic visions — the first in 2003 and the second in 2011 — and they have provided invaluable blueprints for the institute’s pursuits over the past ~17 years. Last week, the institute added the third chapter to this series, publishing the 2020 NHGRI Strategic Vision (entitled Strategic vision for improving human health at The Forefront of Genomics ) in the journal Nature. This paper is the result of an extensive ~32-month strategic planning process that involved thousands of individuals. It provides a "2020 vision" for human genomics for the coming decade.

Each of the three NHGRI-produced strategic visions is quite distinct, reflecting different eras and circumstances for genomics as a field and for NHGRI as a research funder. With genomics now being deeply woven into the fabric of biomedical research and, increasingly, medicine and society, developing the 2020 NHGRI Strategic Vision required deeper and broader engagement, not just with researchers but also with healthcare professionals and multiple other communities. In the end, the latest round of strategic planning involved over 50 events, including workshops focused on specific areas and town halls across the country that involved diverse stakeholders; the process also included extensive discussions with NHGRI’s advisory groups.

The 2020 NHGRI Strategic Vision acknowledges the highly disseminated nature of genomics that the field will encounter this decade. While genomics was once a fairly confined field, new technologies and advances have catalyzed significant uptake of genomics throughout biomedical research and into other areas such as healthcare, agriculture, ancestry testing, and forensics. Meanwhile, the genomics funding ecosystem at NIH has also changed. During the Human Genome Project, NHGRI funded more than 95% of the “human genomics” research supported by NIH. Now, this figure is roughly 10%, meaning that the other NIH institutes and centers have embraced the study of human genomics in a significant way across their research portfolios and now fund the remaining ~90% of human genomics research. NHGRI has a new role in this dynamic landscape, with a shift from leading almost all of human genomics to a focus on the most cutting-edge aspects of the field — that is, The Forefront of Genomics.

The 2020 NHGRI Strategic Vision recognizes that responsible stewardship is a central aspect of being at (and pushing forward) The Forefront of Genomics, specifically in four major areas:

• The first, “guiding principles and values for human genomics,” undergirds the entire field by being cognizant of important issues related to things like diversity, equity, social justice, data sharing, and team science.
• The second, “sustaining and improving a robust foundation for genomics,” represents the reliance of the broader biomedical enterprise on a strong foundation for genomics research (consisting of infrastructure, resources, training, genomic literacy, data science, and exciting areas of technology development) and the need to sustain and improve this foundation.
• The third, “breaking down barriers that impede progress in genomics,” is a call-to-action for high-risk pursuits to eliminate obstacles related to DNA synthesis and editing, characterizing genomic variants, understanding genomic mosaicism, and implementation science.
• The fourth, “compelling genomics research projects in biomedicine,” aims to stretch our imagination and pique our curiosity through audacious studies that will provide new insights into areas such as genome function, the genetic architecture of human diseases and traits, and genomic medicine implementation.

The 2020 NHGRI Strategic Vision culminates with 10 bold predictions for human genomics by 2030. Crafted to be both inspirational and aspirational, these predictions are intended to provoke thoughtful discussions (and even debate) about what might be possible in the coming decade. Among the boldest of the 10 predictions are those that rely not only on the tools of genomics, but also on advances in society — a reminder that the science can only take us so far. These 10 bold predictions are featured in an NHGRI-produced video, narrated by the talented author and NHGRI friend, Siddhartha Mukherjee, M.D., Ph.D.

Through its focus on The Forefront of Genomics, the new strategic vision aims to convey the areas that are most appropriate for NHGRI’s vision, leadership, and responsible stewardship. That spirit is further amplified in an accompanying commentary written by NHGRI Director Eric Green in Scientific American. To fulfill the full potential of genomics, researchers need to push the boundaries of science at the same time that each person — scientist and nonscientist alike — continually examines what they know to be true and possible.

The 2020 NHGRI Strategic Vision is available online at genome.gov/2020SV.

In early 2020, NHGRI, the National Cancer Institute (NCI), and National Institute of Allergy and Infectious Diseases (NIAID) launched a collaborative study in response to the COVID-19 pandemic. This study aims to learn about the genomic contributions that influence the severity of COVID-19 symptoms. People who have tested positive for SARS-CoV-2 (the virus that causes COVID-19) may be eligible. Participants will be asked to donate a small amount of blood and answer questions about their health history and COVID-19 symptoms. Results from this study may provide insights for use in reducing the severity of COVID-19 symptoms and, potentially, for developing new therapies. Please visit genome.gov/covidcode for more information.

Members of NHGRI’s Education and Community Involvement Branch recently published a paper, entitled “The NHGRI Short Course in Genomics: energizing genetics and genomics education in classrooms through direct engagement between educators and scientists,” in the journal Genetics in Medicine. Through comparison of publicly available NHGRI Short Course participant data from 2015 to 2019 with data from the National Center for Education Statistics, the authors assessed progress in serving diverse educator and student populations. The paper concludes that the NHGRI Short Course has the potential to facilitate the engagement of educators and students at all levels, inform the public about recent advances, recruit and maintain a diverse STEM workforce, and improve genomic literacy and future health decision-making. Although the course focuses on genomics, the framework and lessons are transferrable to other scientific areas, especially for institutions with active research programs.

Last month, the Human Heredity and Health in Africa (H3Africa) Consortium published a major paper in the journal Nature reporting results from their efforts to increase genomic data from African populations. The paper, entitled “High depth African genomes inform human migration and health,” includes the analyses of whole-genome sequences of 426 individuals from 13 African countries, which together represent 50 ethnolinguistic ancestral groups. The findings show complex patterns of admixture, putative-damaging and novel variation, and clinically relevant genomic markers. The study discovered 62 new genomic regions under strong selection, with many of the regions containing genes involved in viral immunity. The effort was primarily led by African researchers from multiple African countries working with collaborators and institutions from outside Africa. H3Africa is an initiative led by NIH, the Wellcome Trust, and the African Society of Human Genetics that aims to enhance genomics research on the African continent through research, training, and infrastructure development.

In 2017, NIH and the American College of Medical Genetics and Genomics (ACMG) established a fellowship in genomic medicine program management. This two-year opportunity aims to increase the pool of healthcare practitioners who are trained to lead research and implementation programs in genomic medicine. The fellowship is a partnership between the ACMG and four components of the NIH: NHGRI; the National Heart, Lung, and Blood Institute (NHLBI); the National Institute on Minority Health and Health Disparities (NIMHD); and the All of Us Research Program. Four fellows are currently participating in the program: 2019-2021 fellows Hwaida Hannoush, M.D., FASE and Marie-Luise Brennan, M.D., Ph.D.; and 2020-2022 fellows Renee Rider, J.D., M.S. and Valerie Willis, Ph.D., R.N., PPCNP-BC, PCNS-BC. Applications for the 2021-2023 fellowship are due on December 1, 2020.

This year’s Nobel Prize in Chemistry was awarded to Jennifer Doudna, Ph.D., and Emmanuelle Charpentier, Ph.D., for their groundbreaking work in genome editing and the development of the CRISPR-Cas9 system. The tools developed through the CRISPR-Cas9 system are being used across the full continuum of biomedical research, with basic, translational, and clinical applications. Dr. Doudna leads the NHGRI-funded Center for Genome Editing and Recording (CGER), part of the institute’s Centers of Excellence in Genomic Science (CEGS) program. CGER aims to address the need to study the human genome at higher resolution and with increased accuracy, specifically by developing tools based on CRISPR-Cas9 systems to study and modify genome sequences in various cells and tissues.