I was in high school when the human genome made it to front pages of newspapers around the world. Unlocking our genetic code had taken $2.7 billion and close to 15 years to finish. That was 2001.
Today, it costs only about $1,000 to sequence a whole genome — a dollar figure low enough for personal genome sequencing to make sense. But what might it mean to get your own genome sequenced?
That was the question Carl Zimmer, bestselling author and science columnist for the New York Times and other publications, explored at a symposium organized by the Stanford Center for Computational, Evolutionary Human Genomics this week.
Zimmer’s investigation into his genome began when a geneticist asked him if he’d like his genome sequenced. “I was stunned that the question could be asked,” Zimmer said. “It was like saying ‘Would you like to go to Jupiter?’”
First, Zimmer said he signed up with the company Illumina to have his genome read. Days later, his clinical report came in with “nothing to say” about the more than 1,500 genes they had examined. The most detailed response was: “Your muscle fibers are built for power,” Zimmer said.
“A boring genome is a good genome,” Zimmer said. “If they’d said, ‘you’ve got Huntington’s,’ it would’ve been bad for me, but a great story.”
Illumina’s analysis reflected a tiny sampling of the information the genome contained, Zimmer said. Knowing that wasn’t how scientists study genomes, Zimmer got his hands on the raw data — the full 60 gigabytes of his blueprint DNA.
He said he found more than 20 scientists who volunteered to peer into what he calls the “Zimmerome.” Among the many things Zimmer discovered was that he has a mutation that puts him at risk for high cholesterol and another that makes it difficult to break down drugs. Zimmer said he learned he shares 1.4 million DNA variations with two random individuals from China and Nigeria. In addition, he found out that 2 percent of his genes are from Neanderthals and he has a surprising Italian ancestry he’s still trying to trace — all of which he chronicled in a series that appeared on STAT called the “Game of Genomes.”
Zimmer said the experience taught him that although genome sequencing is now easy to access, it’s still quite difficult to extract meaningful information from our genes. The scientific community is still very far from being able to decipher the function of every single element in our genome, he said.
He found that currently, genome sequencing can help identify a variety of genetic disorders. But it is less clear what a healthy individual might gain from having his or her genome read.
“There’s a disconnect between the morning-in-the-forest kind of hoopla about what you can find about your genome and what [scientists] can actually deliver to people who are healthy,” Zimmer said. “It’s a fundamentally hard problem.”
As Zimmer wrote in the “Game of Genomes,” “This genomic noodling is great fun, although it may not mean that much to my own existence.” Yet.
Previously: Here be dragons: Hard-to-sequence sections of genome remain and A leader in the Human Genome Project shares tale of personalized medicine, from 1980 until today
Photo by Saul Bromberger and Sandra Hoover Photography