A wealth of ELSI information at your fingertips: The ELSIhub
I hope that you had a happy, healthy, and (especially) safe Thanksgiving this year! Let’s continue to be optimistic that we will find ourselves in very different COVID-19 circumstances by next Thanksgiving.
I was remiss in making you aware of an important National Institutes of Health (NIH) milestone that took place earlier this fall. October 31, 2020, marked the 80th anniversary of President Franklin Delano Roosevelt’s dedication of the campus of the NIH in Bethesda, Maryland. I encourage you to read the NIH Director’s Blog Post on this topic and also to view the available video footage of that historic day.
I am pleased to point out that we have added a new temporary section to The Genomic Landscape, one that highlights the “Guiding Principles and Values for Human Genomics” described in the recently published 2020 NHGRI Strategic Vision. In each of the next nine months, we will feature one of the Strategic Vision’s guiding principles/values, with an associated testimonial written by a member of the NHGRI leadership. See below for the first example of this feature, with a testimonial provided by Dr. Chris Gunter.
All the best,
A wealth of ELSI information at your fingertips: The ELSIhub
Last month, a new online platform for capturing content and resources associated with genomics-related ethical, legal, and social implications (ELSI) research went live. ELSIhub, a product of the NHGRI-funded Center for ELSI Resources and Analysis, aims to enhance the production and use of scholarship materials associated with the ELSI aspects of genetics and genomics. The platform facilitates resource sharing and community building among ELSI scholars, clinicians, educators, trainees, and the wider research community. Led by Mildred Cho of Stanford University and Sandra Soo-Jin Lee of Columbia University, ELSIhub builds on insights from a wide-ranging needs assessment process, interviews, and surveys of members of the ELSI research community and beyond. The platform includes a wealth of ELSI research information. Key features include ELSI literature resources, an ELSI scholar directory, information on ELSI-relevant funding opportunities, and an ELSI grant abstracts database.
The ELSI resources section offers a research tools database that facilitates access to commonly used survey instruments for empirical ELSI scholarship. The resources section also features a publications database comprising published ELSI work in genetics and genomics as well as related life sciences; this database includes the publications generated with funding from NHGRI’s ELSI Research Program. Importantly, collection includes publications that cannot be found by simple PubMed searches.
The ELSI scholar directory catalogs established ELSI investigators and trainees with an interest in genomics-oriented ELSI research. Users of ELSIhub are encouraged to contact individuals in the directory to organize collaborative projects or working groups, discuss speaking opportunities, solicit expert commentary, obtain advice on policy or legislation, and arrange mentor/mentee relationships.
The funding opportunities section of ELSIhub includes funding announcements about ELSI research, abstracts and products of funded ELSI grants, grantsmanship training videos, funding FAQs, and sample proposals for helping scholars get support for their work. This section includes current programs related to research on and training in ELSI topics related to genetics and genomics as well as funding announcements from NIH, foundations, and other sources.
The ELSI grant abstracts database contains descriptions of projects funded by the NHGRI ELSI Research Program. These abstracts date back to the program’s launch in 1990.
ELSIhub also contains a news and events section, which provides the latest updates on ELSI news, events, publications, webinars, and job opportunities. Links for upcoming events can be found at this site, and videos of past events are posted on the site as soon as they are available. The job postings are for ELSI-related employment opportunities across the globe.
Finally, the virtual ELSI Friday Forum, a monthly one-hour seminar series featuring topics on genomics-oriented ELSI research, is held on the second Friday of each month from 12:00-1:00 p.m. ET / 9:00-10:00 a.m. PT as part of ELSIhub. The forum includes talks and panels on a broad array of issue that are explored through an ELSI lens. Each hour-long forum is immediately followed by an informal networking session for audience members who would like to continue the discussion. The premier of the Friday Forum was held on November 13 and featured a conversation on “Structural Racism and Genomics in the Time of COVID” with Dayna Bowen Matthew, J.D., Ph.D. (George Washington University) and Vence L. Bonham, Jr, J.D. (NHGRI). The next ELSI Friday Forum will be held on December 11, "Addressing Racism in Research and Clinical Practice.” Upcoming ELSI Friday Forums in 2021 will include topics such as biobanking in the COVID era; host genomics and vaccinomics; law and genetic privacy; genomics research with indigenous communities; gene therapies; and the integration of visual arts in ELSI work.
A key aspect of ELSIhub is collaboration. ELSIhub is excited to have ELSI researchers and trainees join the ELSI scholar directory, contribute research tools, post a job, and/or add an event. ELSIhub strives to provide “one platform for everything ELSI,” but that goal depends upon contributions from active and collaborative ELSI community members.
NIH publishes a final policy for data management and sharing
Data sharing is a critical part of the research process that can improve reproducibility of study results and promote reuse of high-value datasets for future research studies. Responsible data sharing makes data available for researchers in a manner that maximizes the utility of generated data while maintaining privacy and consent. In an effort to improve data sharing in biomedical research, NIH released the Final NIH Policy for Data Management and Sharing in October 2020. The policy applies to all NIH-funded research and will go into effect on January 25, 2023. NHGRI has a long history of sharing genomic data and strongly supports NIH’s in these increased efforts to make publicly funded biomedical research data more broadly available. The policy includes supplemental information on data management and sharing costs and data repositories. NHGRI remains committed to participating in and preparing for implementation of this important policy.
NHGRI unveils a short video on the human pangenome
NHGRI’s Communications and Public Liaison Branch recently produced a short video with the science media company Massive Science called “The Human Pangenome,” which highlights the ongoing efforts to improve the human reference genome sequence. In 2003, Human Genome Project researchers announced the completion of the first human genome sequence. But this first human genome sequence was a composite assembly derived from the DNA of a small number of people, far from being representative of humanity’s genomic diversity; additionally, it contained hundreds of gaps. Ongoing efforts, such as the Telomere-to-Telomere consortium and the Human Genome Reference Program, seek to generate many truly complete, high-quality human genome sequences and to incorporate substantial amounts of information about humanity’s genomic diversity. The resulting multi-genome reference sequence is called the “pangenome,” one that will eventually represent the diversity present in over 350 human genome sequences. The individuals participating in this project have agreed to freely share their genome sequences with the research community. As an educational outreach effort, the Human Pangenome video explains the basic concepts associated with generating and using a pangenome representation of the human genome.
Student-driven online journal features current genomics research
NHGRI has partnered with the Smithsonian to establish a new online science communication journal called Genomics: Insights. The journal provides an opportunity for students — high school students, college students, post-baccalaureate trainees, graduate students, and postdoctoral trainees — to write and develop their scientific communication skills, including receiving writing feedback through a quasi-peer review process. Genomics: Insights publishes articles whose content spans a variety of disciplines within genomics and whose target audience is the lay general public. With communicating science to the public being an important skill for scientists, this online journal provides a valuable opportunity for developing science-communication skills. Genomics: Insights is now accepting submissions for its January 2021 issue (the submission deadline is December 15, 2020).
International Hundred Thousand Plus Cohort Consortium publishes research goals
Leaders of large-scale human research cohorts, with support from the NIH and the Wellcome Trust and in collaboration with the Global Alliance for Genomics and Health and the Global Genomic Medicine Collaborative, have come together to form the International Hundred Thousand Plus Cohort Consortium (IHCC). The IHCC aims to create a global network for translational research that utilizes large human cohorts to enhance the understanding of the biological and genomic basis of disease and to improve clinical care and population health. Teri Manolio, M.D., Ph.D., Peter Goodhand, and Geoffrey Ginsburg, M.D., Ph.D., recently published a paper providing details about the IHCC in The Lancet. Entitled “The International Hundred Thousand Plus Cohort Consortium: integrating large-scale cohorts to address global scientific challenges,” the paper outlines the goals, efforts, and benefits of the IHCC and invites leaders of large human cohorts to join the IHCC by contacting firstname.lastname@example.org.
History and philosophy of science publications bridge gaps between social and biological sciences
Through the efforts of the NHGRI History of Genomics Program, a collection of papers available in an open-access format on “Social Borrowings and Biological Appropriations” was recently published in a special issue of the journal Studies in History and Philosophy of Science Part C: Studies in History and Philosophy of Biological and Biomedical Sciences. This special issue, which was edited by Chris Donohue, NHGRI historian, emanates from an October 2015 conference entitled “Biological Concepts, Models, and Metaphors in Social and Human Sciences.” The papers seek to break down barriers between the history of social and behavioral sciences and the history of biology, genetics, and eugenics. The papers were authored by established experts as well as more junior investigators in history and philosophy of science.
Maintain an overarching focus on using genomics to understand biology, to enhance knowledge about disease, and to improve human health — genomics is now foundational across the entire continuum of biomedical research, from deciphering fundamental principles of biology to translating that knowledge into disease prevention and medical advances.
This guiding principle encapsulates everything that NHGRI stands for. The bulk of my graduate dissertation work was reporting the discovery of one single nucleotide polymorphism (SNP) in one gene, FMR1, and showing a link between this SNP and the risk of one disease, fragile X syndrome. I could only dream that 20+ years later, we would be surveying the entire genome at once, even going into the ‘difficult regions’ to assess risks for complex conditions in all humans. It is an honor to now be a part of the Institute’s mission, enabling researchers everywhere to invent new genomics technologies and uses, and enabling translation of those to human health improvements.
Chris Gunter, Ph.D. (Senior Advisor to the NHGRI Director for Genomics Engagement)
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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.
Last updated: December 3, 2020