20-year anniversary of draft human genome sequence publications

Human Genome Project

Twenty years ago today, scientists, government officials, members of the press, and leaders of the Human Genome Project (HGP) crowded into a conference room in downtown Washington, D.C., to publicly unveil the major scientific highlights derived from the first look at the draft sequence of the human genome. A few days later on February 15, 2001, Nature and Science published the major papers describing those findings. The papers were the products to two efforts — one publicly funded and one privately funded. The initial analyses of the draft human genome sequence revealed information about the number of genes, mutation rates, and patterns of genomic variation in the human genome. The two papers also described how technology development, analytical methods, and intensive collaboration enabled the enormous scientific achievement of generating a draft ordering of the ~3 billion chemical units in human DNA.

It has been a banner year for significant genomics anniversaries, this one being the third of three featured in recent issues of The Genomics Landscape. The HGP was launched in October 1990; NHGRI celebrated the 30th anniversary of that milestone in October 2020. In June 2000, President Bill Clinton held a press conference at the White House to announce the completion of a draft human genome sequence; NHGRI and genomics researchers reminisced about that achievement on the 20th anniversary of the White House event in June 2020. And here we are celebrating the 20th anniversary of the landmark papers reporting that feat and the initial findings from analyzing the draft human genome sequence.

Acknowledging these anniversaries serves both to celebrate genomics as a field and to express the deep respect for the HGP pioneers whose accomplishments are having a long-lasting impact. In generating the first draft human genome sequence, these dedicated researchers created resources, technologies, policies, and a way of pursuing biological research that has propelled genomics into a dynamic and powerful scientific field that now permeates all of biology and powers biomedicine.

From the early meetings in the 1980s discussing the desirability and feasibility of sequencing the human genome, to the U.S. Department of Energy’s efforts to organize the HGP, and to the National Institute of Health’s leadership throughout the HGP, generating the sequence of the human genome has forever changed biomedical research. The International Human Genome Sequencing Consortium committed to rapid data sharing, fostering a new culture that promoted open science. Later, the development of new DNA sequencing technologies and the resulting reductions in the cost of DNA sequencing has enabled genome sequencing to become a widespread research and, increasingly, clinical tool.

Recently, Bob Waterston, M.D., Ph.D., former director of the Washington University Genome Sequencing Center, and Jane Rogers, Ph.D., former head of sequencing at the Wellcome Trust Sanger Institute, video chatted with NHGRI staff about their experiences leading two of the major HGP genome sequencing centers and contributing to the International Human Genome Sequencing Consortium’s publication in Nature.

“It provided a view of the whole landscape for the first time,” Bob Waterston said about the draft human genome sequence. “I can remember looking at sequence coming off the machines and popping it up on my computer and thinking this is four million years in the making and I’m the first person to look at it . . . to be reading our genome and have it all there . . . was spectacular.”

Regarding the initial examination of the newly generated human genome sequence, Jane Rogers said she was “impressed at how many analyses could be done with the draft sequence. It really was quite amazing to come up with what we did [and to] have the global view and also to have tools that began to allow you to access different parts of the genome — and to be able to view it at different levels on a whole genome scale down to the individual sequence data.”

Twenty years ago, the authors of the landmark Nature and Science papers appreciated the historic significance of their publications, while also realizing that their accomplishment was just the beginning of the journey to understand the human genome. As aptly stated in the International Human Genome Sequencing Consortium’s paper: “Finally, it has not escaped our notice that the more we learn about the human genome, the more there is to explore.” Undoubtedly, the ever-growing field of genomics, which is truly the legacy of the HGP, will continue to offer up enticing scientific mysteries to be explored in the decades ahead.

For more information about the history of the Human Genome Project, please see NHGRI’s updated Human Genome Project Timeline of Events.

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