Circulating Now welcomes guest blogger Zach Utz, MA, Archivist and Public Historian, from the National Human Genome Research Institute (NHGRI) History of Genomics Program—the only field-specific history program within the National Institutes of Health (NIH)—to celebrate its 10-year anniversary. Since its inception in 2012, the History of Genomics Program has chronicled how genomics research began and evolved at NHGRI. It has also captured the ideas and plans that led to one of the most important biomedical research undertakings in history: The Human Genome Project.
In September 2008, the National Human Genome Research Institute (NHGRI) was experiencing seismic changes. Francis Collins, MD, PhD, made the decision to step down as institute director. Collins had joined NHGRI (then called the National Human Genome Research Center, or NCHGR) in 1993 after the first director, James Watson, PhD, resigned. Collins would go on to serve as director of the National Institutes of Health from 2009 to 2021.
At NHGRI, Collins leadership proved key to the success of the publicly funded Human Genome Project, which formally began in 1990 and concluded in 2003 with the near-complete sequence of the human genome. Collins also played a central role in many of the landmark NHGRI projects that followed, including the International Haplotype Map Project (HapMap), 1,000 Genomes, and Human Heredity and Health in Africa (H3Africa).
Genomic research at NIH had come a long way since Marshall Nirenberg and his team completed the Nobel Prize winning work of discovering how sequences of DNA, known as “triplets,” direct the assembly of amino acids into the structural and functional proteins essential to life. Manuscript collections like the Marshall Nirenberg Papers, held at the National Library of Medicine, are important records of scientific work and its impact on society. Dr. Collins recognized that his office was beginning to look like an archive.
During his 15-year tenure, he accumulated nearly 100 boxes of printed materials, including correspondence, files from some of the most important meetings during the Human Genome Project, reports, planning documents and handwritten notes. As he was cleaning out his office during his final week, he wondered what he should do with his large collection of files.
Collins called up his friend and colleague, Eric Green, MD, PhD, who was the NHGRI scientific director at the time, and asked, “Do you think we should be scanning some of these documents and, if so, can you help?”
Green had also spent a great deal of time thinking about preserving the Human Genome Project’s legacy, often thinking to himself, “this is a historic project. I really hope someone is writing all of this down!” So it came as no surprise that Green’s answers to Collins were an emphatic, “Yes and yes!” With that exchange, the seeds of the NHGRI History of Genomics Program were planted.
The History of Genomics Program begins!
When Green became the NHGRI director in 2008, it fell to him to figure out how to preserve this rich historical legacy. Green’s staff soon began finding even more boxes of records from other key leaders of the institute. He called upon Gloria Butler, a records manager; Susan Vasquez, special assistant to the director; and Kris Wetterstrand, MS, the scientific liaison to the director for extramural activities, to devise a plan. They started scanning the documents, but it was clear to Green that simply preserving these materials wasn’t enough; according to Green:
“It was like cluttering up an attic and not having any inventory of what’s up there or where it could be found. That seemed insufficient for the historic value of the documents. We needed someone who would develop a better organizing infrastructure, one with consideration about how such documents would be used. We needed a professional historian.”
Christopher Donohue, PhD, who was finishing his doctorate in history with a specialization in the history of science, technology and medicine, fit the bill. He joined as the NHGRI historian in August of 2012 to help lead the program. We now observe his date of hire as the date the History of Genomics Program was born!
NHGRI Director Eric Green perfectly summed up the spirit of the program at a 2017 National Advisory Council on Human Genome Research meeting:
“I’ll be candid — the History of Genomics Program is somewhat unprecedented,” says Green. “Most other institutes just haven’t done something like this. But that’s what we do at NHGRI. We do things that are unprecedented all the time, and it’s served us well.”
Scanning the History of NHGRI
To date, the History of Genomics Program has scanned more than 1 million pages of historical documents. In 2018, I was brought onboard to help do the archival work of managing and organizing our collections. Part of this involved updating our existing searchable database with more metadata. We currently have approximately 3,000 files in this database, which is a small subset of our larger holdings. To date, we have over 50 individual researchers utilizing this database. Every year we receive files from staff as they leave the institute, and we work diligently to preserve these records. Some of these files contain sensitive information about the grant funding process, or personally identifiable information (PII). Our historian and I have been working to make as many files as possible available while also protecting this sensitive information.
For the past several years, we have been collaborating with the Amaral Lab at Northwestern University to develop new machine learning tools that will help us more efficiently and effectively process and understand the breadth of our archival collections. The potential benefits of these new tools are immense, including algorithms to read handwriting and technology to redact sensitive information from historical-rich documents. NHGRI recently held a fascinating virtual roundtable discussion where Luis Amaral, PhD, and his doctoral student Spencer Hong, MS presented their research.
In the past six months, I have been annotating the collection of files that make up the most historically significant portion of our archive: the Francis Collins collection. In the coming weeks, we will debut a new space within the NHGRI website that will provide users with a searchable finding aid for the 2,700 folders within the Collins collection.
Hosting Genomics History
Whether you realize it or not, many parts of our daily lives are influenced by genomic information and technologies. Genomics now provides a powerful lens for use in various areas, including medical decisions, food safety, ancestry and more. NHGRI is committed to driving the responsible use of genomics in society in order to advance knowledge and ensure that genomics benefits the health of all humans.
In December 2021, NHGRI’s History of Genomics Program co-hosted a two-day virtual event entitled “The Meaning of Eugenics: Historical and Present-Day Discussions of Eugenics and Scientific Racism.” More than a dozen scholars and 1,000 attendees came together to discuss eugenics and scientific racism. In addition, the program collaborated with others in the NHGRI Office of Communications to develop an educational timeline and fact sheet focused on the histories of eugenics and scientific racism.
Addressing the history of eugenics is important because it has persisted in policies and beliefs around the world, including the United States. Eugenics is an inaccurate but pervasive theory presented by Sir Francis Galton in his 1886 book Inquiries Into Human Faculty and its Development—a copy of which is held at NLM—and is linked to historical and present-day forms of discrimination, racism, ableism and colonialism. Preserving the history of genomics allows contemporary and future historians like Dr. Rana Hogarth to access and use these materials in their work. Following her participation in NHGRI’s December 2021 event, Dr. Hogarth’s recent NLM History Talk, “The Measure of Black (Un)Fitness: Legacies of Slavery in the Early Eugenics Movement,” sponsored by NLM and the National Endowment for the Humanities (NEH) in April 2022, explored how people of African descent became targets of eugenic study during the early decades of the twentieth century.
This year is shaping up to be just as active. Along with stakeholders and scholars, the History of Genomics Program continues to host events that focus on the issues of genetics, ableism and disability. A two-day symposium is scheduled for October 6-7. Registration is free and open to the public! As we look forward, we are constantly trying to think of ways to further engage the public in the history of genomics and how this relatively young and exciting field continues to shape our understandings of science and medicine.