{"id":24808,"date":"2022-08-25T11:00:25","date_gmt":"2022-08-25T15:00:25","guid":{"rendered":"https:\/\/circulatingnow.nlm.nih.gov\/?p=24808"},"modified":"2023-06-29T16:16:36","modified_gmt":"2023-06-29T20:16:36","slug":"the-history-of-genomics-program-at-10-years","status":"publish","type":"post","link":"https:\/\/circulatingnow.nlm.nih.gov\/2022\/08\/25\/the-history-of-genomics-program-at-10-years\/","title":{"rendered":"The History of Genomics Program at 10 Years"},"content":{"rendered":"

Circulating Now welcomes guest blogger Zach Utz, MA, Archivist and Public Historian, from<\/em> the National Human Genome Research Institute<\/a> (NHGRI) History of Genomics Program<\/em>\u2014<\/em>the<\/em> only field-specific history program within the National Institutes of Health (NIH)\u2014<\/em>to celebrate <\/em>its<\/em> 10-year anniversary. Since its inception in 2012, the History of Genomics Program has chronicled how genomics research began and evolved at NHGRI<\/em>. 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<\/a>.<\/em><\/p>\n

In September 2008, the National Human Genome Research Institute<\/a> (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.<\/p>\n

At NHGRI, Collins leadership proved key to the success of the publicly funded Human Genome Project<\/a>, 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<\/a> (HapMap), 1,000 Genomes<\/a>, and Human Heredity and Health in Africa<\/a> (H3Africa).<\/p>\n

\"A<\/a>
Dr. Collins analyzing an autoradiogram displaying the results of a Sanger DNA sequencing experiment, such as that used in the early years of the Human Genome Project.
Courtesy NHGRI Photo Archive<\/em><\/figcaption><\/figure>\n
\"Nirenberg<\/a>
Marshall Nirenberg performing experiment, ca. 1962
Profiles in Science, Marshall Nirenberg Papers, National Library of Medicine<\/em><\/a><\/figcaption><\/figure>\n

Genomic research at NIH had come a long way since Marshall Nirenberg<\/a> and his team completed the Nobel Prize winning work<\/a> of discovering how sequences of DNA, known as \u201ctriplets,\u201d direct the assembly of amino acids into the structural and functional proteins essential to life.\u00a0 Manuscript collections like the Marshall Nirenberg Papers<\/a>, 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.<\/p>\n

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.<\/p>\n

Collins called up his friend and colleague, Eric Green, MD, PhD, who was the NHGRI scientific director at the time, and asked, \u201cDo you think we should be scanning some of these documents and, if so, can you help?\u201d<\/p>\n

Green had also spent a great deal of time thinking about preserving the Human Genome Project\u2019s legacy, often thinking to himself, \u201cthis is a historic project. I really hope someone is writing all of this down!\u201d So it came as no surprise that Green\u2019s answers to Collins were an emphatic, \u201cYes and yes!\u201d With that exchange, the seeds of the NHGRI History of Genomics Program were planted.<\/p>\n

The History of Genomics Program begins!<\/h3>\n

When Green became the NHGRI director in 2008, it fell to him to figure out how to preserve this rich historical legacy. Green\u2019s 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\u2019t enough; according to Green:<\/p>\n

“It was like cluttering up an attic and not having any inventory of what\u2019s 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.\u201d<\/p><\/blockquote>\n

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!<\/p>\n

\"History<\/a><\/p>\n

NHGRI Director Eric Green perfectly summed up the spirit of the program at a 2017 National Advisory Council on Human Genome Research meeting:<\/p>\n

\u201cI\u2019ll be candid \u2014 the History of Genomics Program is somewhat unprecedented,\u201d says Green. \u201cMost other institutes just haven\u2019t done something like this. But that\u2019s what we do at NHGRI. We do things that are unprecedented all the time, and it\u2019s served us well.\u201d<\/p><\/blockquote>\n

Scanning the History of NHGRI<\/h3>\n

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.<\/p>\n

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<\/a> where Luis Amaral, PhD, and his doctoral student Spencer Hong, MS presented their research.<\/p>\n

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.<\/p>\n