Capturing the history of the Human Genome Project and beyond

In September 2008, the National Human Genome Research Institute (NHGRI) was experiencing a seismic change. After 15 years as the institute director, Francis Collins, M.D., Ph.D., had made the decision to depart NHGRI. As he was cleaning out his office, he wondered what he should do with his large collection of files.

Collins had collected and organized countless pages of rich historical documents from one of the most important undertakings in science, the Human Genome Project, as well as a series of major genomics initiatives that immediately followed. As one of the project’s major leaders, his files contained key insights about the early days of the genomics field.

“Do you think we should be scanning some of these documents and, if so, can you help?” Collins asked his friend and colleague, Eric Green, M.D., Ph.D., who was then the NHGRI scientific director and a genomicist who worked on the Human Genome Project.

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 were an emphatic, “Yes and yes!” With that exchange, the seeds of the NHGRI History of Genomics Program were planted.

This month, the NHGRI History of Genomics Program celebrates 10 years of chronicling how the field of genomics began and evolved, with a particular emphasis on the role of NHGRI. The program captures various types of digital assets, from collecting historical documents on landmark projects, to cataloging important photographs and videos, to conducting oral histories of genomics leaders.

When Green became the NHGRI Director in December 2009, he moved into Collins’ old office where he found many additional cabinets filled with historically interesting files.

As he opened drawer after drawer, he quickly realized that he was in over his head with handling the treasure drove of historical documents. Further, he learned about nearby rooms that contained nearly 100 boxes of additional Collins’ materials, including files from other key early staff and important genomics projects at the NHGRI.

Green called in others from NHGRI to help him: Gloria Butler, a records manager; Susan Vasquez, special assistant to the director; and Kris Wetterstrand, the scientific liaison to the director for extramural activities. They started scanning the documents, but it was clear to Green that simply digitizing these materials was not enough.

“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,” Green recalls. “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, Ph.D., who was just finishing his doctorate in history with a specialization in the history of science, technology and medicine, fit the bill. He joined as the official NHGRI historian in August 2012. And that became the official birthdate of the NHGRI History of Genomics Program.

Over the last decade, the program has digitized over 1 million pages of historical documents from the Human Genome Project and other genomics initiatives, created a searchable database of over 3,000 files, conducted original scholarly research in several areas, released over 40 oral history videos, and hosted over a dozen events focusing on the history of biology, bioethics, genetics and genomics.

In the past five years, the team has expanded to include Zach Utz, archivist and public historian, and Britny Kish, co-lead (with Donohue). The program is now under the guidance of lead public affairs specialist, Mauresa Pittman, and communications director, Sarah Bates. A postdoctoral fellow, Nicola Sugden, Ph.D., joined the program in 2021.

With the expertise of the NHGRI Office of Communications, the History of Genomics Program recently tackled ambitious projects that align with the 2020 NHGRIs 2020 Strategic Vision. This includes efforts to confront the history and current manifestations of eugenics and scientific racism, ableism and heteronormativity and their complex connections with genetics, genomics and the Human Genome Project.

Most recently, the History of Genomics Program hosted a lecture by Spencer Hong and Luis Amaral, Ph.D., on how machine learning tools can revolutionize our understanding of the history of the Human Genome Project. This presentation raised important questions about the progress and development of genomics.

It has been a busy 14 years since Collins posed the questions that kickstarted the NHGRI History of Genomics Program, and team involved show no signs of slowing down.

“I’ll be candid — our History of Genomics Program is somewhat unprecedented,” says Green. “Most other NIH institutes just haven’t done anything like this. But that’s what we do at NHGRI. We do things that are unprecedented all the time, and it consistently serves us well.”