NHGRI logo

NHGRI History of Genomics Program celebrates its 10th Anniversary

Eric Green, M.D., Ph.D. September 01, 2022

As you make your Fall plans — and if you happen to find yourself in the D.C. area — I would encourage you to visit the Genome: Unlocking Life’s Code exhibition at the Smithsonian’s National Museum of Natural History. As described in the December 2021 issue of The Genomics Landscape, the exhibition first opened at the Smithsonian in 2013 to commemorate the 60th anniversary of the discovery of the double-helical structure of DNA and the 10th anniversary of the completion of the Human Genome Project. After traveling to 12 states and Canada, the exhibition is now back at the Smithsonian until it officially closes, which is currently scheduled for the end of November.

Meanwhile, the 97th meeting of the National Advisory Council for Human Genome Research will take place on September 19-20. The open session of the meeting will be videocast live on Monday, September 19. Please join us via GenomeTV starting at 11:30 a.m. ET to hear updates about NHGRI and genomics research. The first hour of the open session, which will feature my Director’s Report, will also be livestreamed on my Twitter account at @NHGRI_Director.

In other NIH news, President Biden has recently nominated Dana-Farber Cancer Institute Surgeon Monica Bertagnolli, M.D., to be the new director of the National Cancer Institute (NCI). Once appointed, she will be the first woman director of NCI since the institute’s inception in 1937.

 

 All the best,

 

 

Eric Green signature

NHGRI History of Genomics Program celebrates its 10th Anniversary

History of Genomics Program 10th Anniversary

 

In 2012, NHGRI started a History of Genomics Program that focuses on the preservation of historical assets related to the field of genomics, including those from the Human Genome Project, the major genomics programs that followed it, and scholarship work related to those assets. The NHGRI History of Genomics Program is a remarkable history and science communications effort, one of its kind for an NIH institute.

The program sponsors lectures and symposia, records oral histories, provides access to digital assets about NHGRI and the field of genomics, and pursues scholarly research. The program promotes equity, combat the dehumanization of marginalized groups, and build trust in medical advances by confronting past and present-day wrongs, including stigma, eugenics, scientific racism, ableism, and heteronormativity.

Thanks to careful record-keeping by the architects of the Human Genome Project, NHGRI has a rich archive of scanned and electronic documents from the project and more recent genomics initiatives. The hundreds and thousands of preserved documents include working group recommendations, strategy papers, handwritten notes, and research presentations. The NHGRI History of Genomics Program collects and organizes these historic materials, with the depth and breadth of the resulting resource, providing a wealth of information for science historians. While NHGRI has developed an accessible database for a subset of these documents, which includes detailed associated metadata describing their content, most of the archival materials have yet to be fully processed and cataloged.

The depth of the program’s digital resource is vast, and it is sometimes difficult to locate specific information. So, for the past two years, machine learning experts have been analyzing the resource, revealing new knowledge and insights about genomics history. To commemorate the 10th anniversary of the NHGRI History of Genomics Program, the institute hosted a virtual lecture last month entitled “The history of genomics told through machine learning: a celebration of 10 years of the NHGRI history program,” which explored how machine learning experts have used the program’s digital resource to better understand the role of a funding agency like NHGRI in helping shape the genomics field.

The NHGRI History of Genomics Program also aims to produce scholarly descriptions and analyses through their own studies of the digital resource and through collaborative work with other institute staff, external genomics experts, and professional science historians. Products from such efforts include a monograph-length study on the history of NHGRI human genomic variation programs (from the Haplotype Map Project to the recently completed 1000 Genomes Project) and a special issue of the Journal of the History of Biology on the historical legacy of the Human Genome Project and genomics.

Over the last ten years, the program has held numerous lecture series, meetings, and conferences. These efforts have included the first meeting of the program in 2015 to discuss capturing the history of genomics, the History of Molecular Biology and Genomics Lecture Series, a workshop and speaker series entitled “A quarter century after the Human Genome Project's launch: Lessons beyond the base pairs,” and the “The meaning of eugenics: Historical and present-day discussions of eugenics and scientific racism” symposium featured in the February 2022 issue of The Genomics Landscape.

Inspired by the discussion at the eugenics symposium, the NHGRI History of Genomics Program organized additional events. In May, it convened an expert panel for a virtual meeting entitled "Does genetic and genomic screening keep open the door to eugenics?" to discuss historical and present-day eugenics and scientific racism in the context of genetic and genomic screening technologies. Next month, it will hold a symposium entitled “Irreducible subjects: disability and genomics in the past, present, and future" to address historical and present-day constructions of disability and ableism (described in depth below).

Another signature component of the program is a set of oral history interviews that capture the perspectives and experiences of people involved in the Human Genome Project, major NHGRI programs, and the broader field of genomics. This oral history collection includes interviews of both prominent genomic leaders and NHGRI staff. To date, over 40 interviews have been posted on Genome TV, NHGRI’s YouTube channel.

The program has also developed multiple educational resources. The Eugenics and Scientific Racism fact sheet and the Eugenics: Its Origin and Development timeline provide accessible but detailed overviews of the history of eugenics and scientific racism, with a specific focus on the United States, and how these histories continue to plague society and science. Last month, the program released a new fact sheet on the Human Genome Project to complement the recently updated Human Genome Project Timeline of Events.

The maturation of NHGRI’s History of Genomics Program over its first 10 years has been gratifying to watch. With the increasing pace of genomics, the program will certainly remain busy and productive in the coming years. To learn more about the NHGRI History of Genomics program, see the recently published NHGRI news feature.  

NHGRI launches new Genomic Innovator Seminar Series

Genomic Innovators Award

 

Beginning this Fall, NHGRI will host a new quarterly seminar series focused on genomic innovations. The aim is to foster engagement as part of NHGRI’s “Strategic vision for improving human health at the forefront of genomics.” Each seminar will focus on a specific topic of genomics research by pairing an early career researcher funded through NHGRI’s Genomic Innovator Award program with an established researcher who has made important contributions to the specific research area. Attendees will learn about their groundbreaking endeavors and will have the chance to ask questions of some of the brightest minds in the field. The first seminar in the series will be held on September 29, 2022 at 3:00 p.m. ET. The seminar is entitled “Playing genomic battleship with CRISPR technologies to uncover non-coding functional elements and their phenotypic effects” and features Luca Pinello, Ph.D., of Harvard University, and Karen Mohlke, Ph.D., of the University of North Carolina. Attendance and viewing of the seminars are free, but registration is required.

NHGRI symposium on historical and present-day constructions of genomics and disability

Disability symposium

 

The NHGRI History of Genomics Program and the University at Buffalo Center for Disability Studies will hold a two-day symposium entitled “Irreducible subjects: Disability and genomics in the past, present, and future" on October 6 and 7, 2022 from 10:00 a.m. to 5:00 p.m. ET each day. The symposium will address historical and present-day constructions of disability and ableism, with a focus on the history and lived experiences of people with disabilities in the context of genetics and genomics. Conversations will link disability rights to wider NIH discussions about disabilities in addition to connecting with issues related to inclusivity, intersectionality, equity, and social justice. Participants will discuss how disability and ability are connected to both historical and present-day eugenics, scientific and structural racism, heteronormativity, misogyny, imperialism, and colonialism. Speakers will consider how scientific funding language and NIH communications can address the complexity of disability, health, and wellness. This event is open to the public, but registration is required.

Genetics/Genomics Competency Center is refreshed and renamed to GenomeEd

Two Physicians

 

The Genetics/Genomics Competency Center (G2C2) has been a valued resource for healthcare provider educators and learners alike for over 10 years. The resource has recently undergone a refresh to make it easier for educators and current practitioners to find high-quality resources for group instruction or self-directed learning. With this refresh, the site has also been given a new name – Genomic Education Resources Center (GenomeEd). The new site incorporates filters to help genetic counselors, nurses, pharmacists, physician assistants, and physicians quickly browse materials by topic and format, including the ability to find resources that qualify for continuing education credits. GenomeEd solicits, reviews, and organizes resources through an interdisciplinary collaborative exchange. All resources are vetted to ensure educators and learners have access to relevant resources and approaches to achieve genetics and genomics competency.

2022 NHGRI Short Course in Genomics provides a learning opportunity for science educators

Short Course

 

In August, the NHGRI Education and Community Involvement Branch hosted the 2022 Short Course in genomics for middle school, high school, community college, and tribal college science educators. The course was expanded this year to include 40 new participants as well as 13 course alumni. The annual course provides an opportunity for science educators to hear lectures and receive teaching resources from leading NIH researchers, clinicians, and staff. The course featured an engaging mix of live lectures, Q&A sessions with NIH scientists, workshops, and hands-on virtual activities. This year, NHGRI expanded the program to feature external collaborators, including the DNA Learning Center at Cold Spring Harbor Laboratory, the Smithsonian Environmental Research Center, and Operation Outbreak. For the first time since 2020, local participants were offered a guided tour of the “Genome: Unlocking Life’s Code” exhibition at the Smithsonian’s National Museum of Natural History in Washington, D.C. If you are a middle school, high school, community college, or tribal college science educator interested in applying to next summer’s Short Course in Genomics, visit the course’s website. The application process will open in February 2023.

Genomic Data Sharing Spotlight

 

The Global Alliance for Genomics and Health (GA4GH) is a standards-setting organization for genomics data sharing, similar in principle to the World Wide Web Consortium that helped build the foundations of the internet. GA4GH strives to enable international data sharing by cultivating standards that will make it easier for researchers around the world to find, access, combine, and securely analyze genomic and health-related data. By adhering to similar policy frameworks and technical standards, GA4GH hopes to help researchers reach across time zones and national barriers to drive discoveries in human genomics. GA4GH standards are designed to work in tandem to enable data sharing and analysis from start to finish. The organization welcomes engagement and is developing tools and starter kits that will make adopting the standards easier for newcomers or those with less technical expertise.

 

GA4GH is fueled by volunteers who are actively improving the genomic data sharing ecosystem. Whether you’re interested in learning about existing GA4GH standards, helping to develop or improve a technical standard, or testing out a standard where you work, we encourage you to reach out to info@ga4gh.org. Did you know that GA4GH contributors hail from more than 60 countries around the world?

 

To learn more about the mission of GA4GH, check out this short video.

 

Global Alliance for Genomics and Health (GA4GH)


Image by GA4GH

grey dot pattern

About The Genomics Landscape

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

grey dot pattern

Last updated: September 1, 2022