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Even though today is April Fool’s Day, I am seriously excited about highlighting progress in areas that influence the genomics research enterprise — from efforts to end structural racism in biomedical research, to science education and outreach, to data science policy and strategy. But before you get to those stories, I have a couple of important reminders.
As mentioned in last month’s issue of The Genomics Landscape , Dan Kastner M.D., Ph.D., has announced that he plans to step down as NHGRI Scientific Director to focus on his research and clinical activities. NHGRI is now accepting applications for this critically important leadership position. Review of applications will begin May 15; however, applications will be accepted until the position is filled.
Also mentioned in last month’s issue of The Genomics Landscape , the NHGRI Genomic Data Science Working Group of the National Advisory Council for Human Genome Research will host a virtual Machine Learning in Genomics: Tools, Resources, Clinical Applications, and Ethics Workshop on April 13-14. Registration is still open on the workshop webpage on genome.gov .
All the best,
Eric Green, M.D, Ph.D.
Last month, NIH Director Francis Collins, M.D., Ph.D, announced expansive new efforts for all of NIH to support equity, diversity, and inclusion in science. Organized as a multi-faceted initiative called UNITE , these efforts aim to end structural racism in biomedical research. As the nation's leading medical research agency, NIH is uniquely positioned to stimulate change in this area.
The NIH UNITE Initiative aims to ensure that biomedical research — and the administrative complex that supports it — is devoid of hostility grounded in race, sex, and other federally protected characteristics. It is committed to identifying and dismantling policies and practices that may perpetuate structural racism in biomedical research, both within NIH and in NIH’s grantee research community. In addition, health disparities and inequities continue to contribute to morbidity and mortality in our nation, making it essential to redress the fundamental causes of these disparities and inequities and to support research programs for developing effective interventions.
Five UNITE committees with experts frm across NIH, including NHGRI staff, have begun to identify actions to address structural racism and issues related to the lack of diversity, equity, and inclusion in biomedical research. The five committees have the following aims:
U — Understanding stakeholder experiences through listening and learning
N — New research on health disparities, minority health, and health equity
I — Improving the NIH culture and structure for equity, inclusion, and excellence
T — Transparency, communication, and accountability with our internal and external stakeholders
E — Extramural research ecosystem: changing policy, culture, and structure to promote workforce diversity
NHGRI enthusiastically supports this renewed emphasis on combating racism and plans to participate in continued activities that promote equity, diversity, and inclusion in genomics. In October, the institute published the 2020 NHGRI Strategic Vision , which prioritizes enhancing diversity in the genomics workforce, inclusion, equity in the field of genomics as well as increasing research to address health disparities and to develop interventions for improving health equity.
In January, NHGRI published a new action agenda for attaining a diverse genomics workforce , which identifies priorities and opportunities for the next decade. In February, NHGRI announced a new postdoctoral fellowship in genomic science and health equity in partnership with the Food and Drug Administration, which aims to train fellows to use genetic, genomic, and pharmacogenomic approaches to advance minority health and health equity.
Additionally, NHGRI has sought new information and perspectives about the many interrelated issues being examined by the NIH UNITE Initiative. Examples include recent talks, also available online , from David Williams, Ph.D., on racial inequities in health and Roderic Pettigrew, M.D., Ph.D., on racial disparities in science , which served to elevate awareness of these issues. On May 25, as part of “ Bold Predictions for Human Genomics by 2030: An NHGRI Seminar Series ,” Charmaine Royal, Ph.D., and Genevieve Wojcik, Ph.D., will present lectures addressing the bold prediction that “Research in human genomics will have moved beyond population descriptors based on historic social constructs such as race.”
For decades, the genomics community has been vocal about the far-reaching social consequences of scientific advances. Human genomic studies inform a greater understanding of social constructs, such as race and other forms of identity. NHGRI has a central place in these discussions, helping to envision what an end to structural racism might look like in the genomics community and across biomedical research.
NIH has issued a Request for Information (RFI) that invites feedback on the approaches NIH can take to advance the goals of UNITE. Comments must be submitted electronically by April 9, 2021.
dna-day DNA Day goes global
NHGRI is taking DNA Day globally for the second year in a row by hosting two Human Heredity and Health in Africa (H3Africa) DNA Day presentations in addition to the annual Louise M. Slaughter National DNA Day Lecture. On March 25, Catherine Scheepers, Ph.D., from South Africa presented “Do you know you have 10 billion different antibodies in your body?” On April 8, Paul Oluniyi, Ph.D. Fellow, from Nigeria will present “Genomic Characterization and Surveillance of Microbial Threats in West Africa.” Rebecca Johnson, Ph.D., from the Smithsonian’s National Museum of Natural History will present “The Wildlife Detective — A ‘DNA-driven’ journey of koalas, cockatoos, and wildlife forensics” on April 23. Videos of each lecture will be available on GenomeTV . For further details and to register for these events, visit genome.gov . To stay up to date on DNA Day activities, follow us on Twitter @DNADay .
genomic-data-science NHGRI publishes educational resource on genomic data science
Twenty years ago, the first draft of the human genome sequence was publicly released. Since then, genomic data science has grown exponentially, paving the way for researchers to decode how variations in the genome influence human biology. Estimates predict that genomics research will generate between 2 and 40 exabytes of data within the next decade. The analysis, storage, and sharing of such vast amounts of genomic data is at the core of genomic data science. Researchers are working to implement frameworks that allow for easy sharing of genomic data, while also preserving the privacy and security of such information. NHGRI has created an educational resource that dives into fundamental questions about genomic data science and provides foundational information about this emerging area.
prs-guidelines NHGRI researchers and collaborators issue polygenic risk score reporting guidelines
NHGRI’s Clinical Genome Resource’s (ClinGen’s) Complex Disease Working Group and the Polygenic Score (PGS) Catalog have published a 22-item framework that identifies the minimal polygenic risk score-related information researchers should include in their studies. A polygenic risk score is an aggregate of the effects of multiple genomic variants and can be used to predict an individual’s predisposition to specific diseases. Studies that include polygenic risk scores are on the rise, but researchers have observed inconsistencies in how such scores are calculated and reported. The new framework reflects an effort to create a standard that will help improve the translation of polygenic risk scores into clinical and public health endeavors.
metadata NHGRI issues guidance for sharing quality metadata and phenotypic data from research studies
NHGRI recently issued a notice regarding expectations for sharing quality metadata and phenotypic data from NHGRI-funded research projects. The institute is committed to improving the quality and utility of genomic and health-related data generated by federally funded genomics research. Ensuring that genomic and other -omic datasets are accompanied with high-quality meta- and phenotypic data will facilitate broader and more effective secondary use of those datasets, thereby accelerating biomedical research advances. For more information about the notice, see NHGRI’s Metadata and Phenotypic Data Sharing Expectations FAQs .
strategy NHGRI to formulate more robust trans-institute data science strategy
The integral importance of “big data” and data science in genomics (and increasingly all of biomedical research) seems to grow every day. Among the areas of importance are considerations about the adoption of cloud platforms, data sharing, knowledgebases and databases, communication and coordination with groups outside of NIH (national and international), and other activities that involve significant data science components. To better link NHGRI’s data science strategy with its research programs and other programs at NIH, the institute plans to generate an exhaustive plan for positioning the institute at the forefront of genomics and data science. To lead this effort, NHGRI extramural program director Valentina Di Francesco will serve as a Special Advisor on Data Science Strategy for the next 6-12 months, during which she will work with institute leadership to design a more robust overarching strategy for NHGRI’s genomic data science efforts.
kastner Dan Kastner receives AMA Government Service Award
NHGRI’s Scientific Director and Director of the NHGRI’s Intramural Research Program, Dan Kastner, M.D., Ph.D., has been awarded the American Medical Association (AMA) Award for Government Service. The AMA gives this award to elected officials or career government employees for significant career-spanning contributions to advance public health. Dr. Kastner received this award for his pioneering work in rare genetic diseases, specifically for “diagnosing and treating rare genetic diseases characterized by fever and inflammation.”
Provide a conceptual research framing that consistently examines the role of both genomic and non-genomic contributors to health and disease — routinely considering the importance of social and environmental factors that influence human health (and the interactions among those components and genomics) will be important for the comprehensive understanding of most human diseases.
There’s strong evidence that human health is affected by both genomic and non-genomic factors — trying to understand what these factors are and how they interact can be fascinating. This holds for both ‘simple’ genomic conditions as well as multifactorial conditions (though I don’t think there’s always such a clear dividing line between the two!). For me, the more I study genomics, the more I appreciate how each supposed answer leads to more questions. For example, people in a family may have the same genetic condition, but each person may be affected differently, and trying to dissect these differences is important and challenging. One thing I enjoy about this area is that studying rare genomic conditions can provide insights into more complex disease processes, where the causes are often a truly complicated mix of different, interacting factors. The current era is particularly exciting because we have many more tools (and datasets) for our investigations, including related to common and difficult health problems.
Benjamin Solomon, M.D. (NHGRI Clinical Director)
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Session 3: April 12, 2021, 3 p.m. to 4:30 p.m.
Prediction: The general features of the epigenetic landscape and transcriptional output will be routinely incorporated into predictive models of the impact of genotype on phenotype.
Speakers:
- Tom Gingeras, Ph.D., Cold Spring Harbor Laboratory
- Tuuli Lappalainen, Ph.D., New York Genome Center
Moderator:
- Paul Liu, M.D., Ph.D., NHGRI
Learn More About The Genomics Landscape The Genomics Landscape Archive
A monthly update from the NHGRI Director on activities and accomplishments from the institute and the field of genomics.