11 Human Genome Project

For (finally) completing the human genome sequence

In 2003—after 13 years of collaborative research—the original Human Genome Project concluded. For the first time in history, humans had the ability to read and better understand our own genetic blueprint, which, in turn, unleashed astounding innovations in everything from health to forensics. 

The original project—called “one of the great feats of exploration in history” and likened by some to splitting an atom—covered 92 percent of the sequence. In April, the Telomere-to-Telomere (T2T) Consortium announced it had completed the remaining 8 percent with the help of better lab tools, computational methods and strategic approaches.

“The genetic code has some simple parts where most of the genes lie, but there are also these complex regions made up of these very large, repetitive sequences that people with existing technologies at that time couldn’t reasonably do,” says Evan Eichler, a professor of genome sciences at the University of Washington, who worked on the original Human Genome Project two decades ago. 

In the decade after the project concluded, new sequencing technologies emerged that would allow scientists to fill in the missing pieces of that code. 

“So we got some of the band back together,” says Eichler, who led the consortium with Karen Miga, a professor at University of California Santa Cruz, and Adam Phillippy of the U.S. National Institutes of Health. About 100 scientists from around the globe worked on the project, including many new, young team members who brought fresh perspectives and new ways of working to the project, Eichler says.

Even with today’s technology, genome sequencing is complex, time-consuming work, making teamwork essential. Managing a research project with so many contributors can be challenging under normal circumstances, even more so for the consortium, whose work took place at the height of the pandemic.

“We had too many Zoom calls to count,” Eichler says, noting that the group used the meetings to coordinate activity, while subgroups convened separately. This arrangement may have worked in the consortium’s favor. “It was very dynamic; anyone who had something to contribute would be considered,” Eichler explains. 

The T2T Consortium’s work adds nearly 200 million letters to the genetic code. Among the newly completed pieces were those that could be responsible for human’s larger brains (differentiating us from primates) and those that may result in developmental delays in children or immune responses in adults. 

With the findings, researchers now can map out more human genomes—eventually hundreds and thousands of them from people all over the world. 

With this goal in mind, the team has joined forces with the Human Pangenome Reference Consortium, which aims to create a more inclusive reference genome. 

“When you think about trying to find the genes that make us human or the genes that mutate and make us sick, we need comprehensive information,” Eichler says. “Now we have a roadmap of how to do this.”

Repeat Performance

The original Human Genome Project appeared on PMI’s first list of Most Influential Projects. Created to mark our 50th anniversary in 2019, it celebrated 50 game-changing projects from the previous five decades. And coming in at number 5 was the Human Genome Project, credited with “rising above the usual silos to unlock the building block of humanity—and enabling unparalleled innovations in medicine, biotech and life sciences.”