25 Years and 3 Billion Base Pairs Later

NHGRI Seminar Series Reflects on the Human Genome Project

BY BRANDON LEVY, NIMH

“The Human Genome Project was a remarkable scientific endeavor. It reshaped biomedical research and paved the way for clinical advances that are already impacting patients’ lives,” said National Human Genome Research Institute (NHGRI) Director Eric Green at the launch of a new seminar series that commemorates the 25th anniversary of the launch of the Human Genome Project.

The series, entitled “A Quarter Century after the Human Genome Project’s Launch: Lessons Beyond the Base Pairs,” showcases the venture, its influence on biomedical research, and the future implications of genomics. It began on December 3, 2015, with a panel discussion moderated by Green and featuring former NHGRI Deputy Directors Elke Jordan (retired in 2002) and Mark Guyer (retired in 2014).

The Human Genome Project arose in part from the United States Department of Energy’s interest in the effects of low-frequency radiation on humans, particularly on their DNA. However, the effects were impossible to study without first building a map of the human genome, an endeavor that was controversial from the start.

“There were some who thought that this [undertaking] was too much and was not interesting research,” said Guyer. But “others thought that this had to be done.”

The key to bridging this gap was the idea that creating genomic maps of nonhuman model organisms would yield great scientific insight on its own, even if a blueprint of the human genome proved an unattainable goal. In 1988, the NIH created the Office of Human Genome Research, which laid the groundwork for NIH’s contribution to the Human Genome Project. A year later, this office became the National Center for Human Genome Research, and Jordan was asked to become its deputy director by then–NIH Director James Wyngaarden.

“This [creation of a new center] was a big step because there was no telling whether this project would succeed [or] whether the project would even live because the money was coming from Congress, and who knew what Congress was going to decide,” Jordan said. “It was a risky thing, but it seemed like the most exciting thing I could do. So I said yes.”

The Human Genome Project was launched on October 1, 1990.

Much of the December panel discussion focused on the leadership vacuum created after the departure of James Watson, the first director of the National Center for Human Genome Research. Watson, who had been appointed to the position in 1990, left two years later because he opposed the efforts of then-NIH Director Bernadine Healy to patent segments of the human genome. Deputy Director for Intramural Research Michael Gottesman served as acting director of the center from 1992 to 1993.

Fortunately, Watson’s replacement was quickly found in current NIH Director Francis Collins, who had been one of the center’s major grantees.

“The community was very concerned about whether the project would continue,” Jordan said. “It was very reassuring that [Collins] was someone who knew the program [and] was respected by the community.”

Collins served as director of the center and of NHGRI (the center gained institute status in 1997) until 2008. Alan Guttmacher became acting director until 2009, when Green was appointed director. Collins became NIH director in 2009.

The panel also contemplated the enduring legacy of the Human Genome Project, which has led to the creation of many avenues of research, including targeted pharmaceuticals and precision medicine. The project also spurred the use of large-scale databases for scientific inquiry.

“When we first started, there was a lot of criticism of the project because it was going to change biology forever,” said Jordan. “We said, ‘This is just a project; we’ll finish it and then we’ll go on.’ We didn’t completely envision how much it would, indeed, change biology.”

At the series’ second event, held on January 28, 2016, genomicist Maynard Olson of the University of Washington (Seattle) gave a talk titled “Genomics Grows Up: What Have We Learned during the Past 25 Years?” Olson discussed his early research examining yeast genomes and the important new technologies that arose from studies in such model organisms.

He explained that without this “tidal wave of technological change,” mapping the human genome would have been impossible. He believes that creating new tools remains key to genomics research today, although it is difficult to say what form those new advancements will take.

“The challenges we face in genomics today are going to require dramatically new technology,” Olson said. “If we try to guess exactly what the technology is, we will surely get it wrong.”

The seminar series includes talks to be presented on the following Thursdays: March 24, April 28, and May 26, 2016. The lectures are held in Lipsett Amphitheater (Building 10), from 2:00 to 3:00 p.m. For links to videos of each session, go to http://www.genome.gov/27562713. For more information, contact Kris Wetterstrand (wettersk@mail.nih.gov).