It was half a year into the new millennium when Human Genome Project leader Francis Collins announced internally that the consortium would be presenting a first draft of a fully sequenced human genome at the White House in around a month’s time.
The only problem? The teams didn’t yet have a sequenced genome—it was more like a “pile of DNA” fragments, according to David Haussler, scientific director at the UC Santa Cruz Genomics Institute. And the deadline was part of a negotiated tie in the heated race with biotech company Celera.
“That was like a thunderbolt,” Haussler told Tech Brew. “There was no way we were ready to do any kind of presentation.”
A UC Santa Cruz grad student named Jim Kent “worked night and day for four weeks, writing 20,000 lines of C code and icing his wrists periodically,” in order to make the historic milestone possible.
On June 26, 2000, President Bill Clinton and UK Prime Minister Tony Blair stood, via telelink, by the two teams of rival scientists—Celera’s and the Human Genome Project’s—as they announced the “rough draft” of a full human genome. It was the culmination of decades of work by thousands of researchers all over the world, and Clinton declared that “humankind is on the verge of gaining immense new power to heal.”
In conversations with scientists nearly 25 years later, it’s hard to pin down just one legacy of the human genome sequencing, which supercharged whole fields of biotechnology, laid the groundwork for a genetics revolution, and led to many large-scale follow-up scientific undertakings. But in some other ways, the field is only beginning to live up to some outsized expectations now.
“Trying to do research in genetics before the Human Genome Project was like trying to explore an area without a map,” Peter Donnelly, Genomics CEO and University of Oxford professor emeritus, told us. “It’s really hard for the generation of people who have gone into our science since the Human Genome Project to imagine what life was like before it.”
The Human Genome Project was one of the large-scale major convergences of biology with modern computer science and big data, according to Lauren Linton, executive director of the UC Santa Cruz Genomics Institute and former co-director of what is now MIT’s Broad Institute when it was a major player in the Human Genome Project.
“That was the first time we created monstrous amounts of data. What could we possibly do with that?” Linton said. “At MIT, we were recruiting people from IBM—like no one existed that did bioinformatics—they were software engineers, and they were working in other fields, and we would say, ‘Come over here. We’ve got a ton of data, and trust us, we’ll teach you the biology.’”
Unexpected complications
And yet despite its massive impact, the Human Genome Project has taken longer to live up to some of the promises made when it was completed, researchers we spoke with said.
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While science has made strides in identifying diseases tied to a single gene and treating cancers, complex diseases that trace to multiple genes interacting with an environment have proven more difficult than expected, according to Gene E. Robinson, director of the Carl R. Woese Institute for Genomic Biology at the University of Illinois Urbana-Champaign.
Linton said one of the next big missions for her team at the Genomics Institute is to combine biology with computation at scale to look beyond just DNA to all of the different factors that interact with it.
“Most disorders or most traits are multi-genic in origin, and so you really have to think about diversity, variation in genes, how they’re mutated or not, but you absolutely had to be thinking about gene expression, protein expression, how things interact in the cell, how they interact beyond the cell, how organs develop and control themselves,” Linton said. “So I think what we’ve seen—if I could be really honest—is that it didn’t all cleave that fast and easily.”
What’s next
Thanks to steep drops in the cost of gene sequencing and large-scale studies in the years since, Donnelly said the field is approaching a turning point in the ability to start better predicting risks for more common diseases.
“We've overstated the impact the genome project would have on people’s health and healthcare for many years after it was discovered,” Donnelly said. “But I think that is changing now, and I think we are going to see a really big impact over the next five or 10 years.”
The legacy of combining computation and life science has also set the stage for new advances in AI-powered biology. Haussler, credited as an early researcher of integrating machine learning into biology, is now studying the intersection of AI and neuroscience with a multi-disciplinary team.
“The brain holds a lot of secrets for the future of our understanding of intelligence,” Haussler said. “What is intelligence, and how does natural intelligence compare to artificial intelligence? I think these will be very profound questions over the next decade.”
This is one of the stories of our Quarter Century Project, which highlights the various ways industry has changed over the last 25 years. Check back each month for new pieces in this series and explore our timeline featuring the ongoing series.
