Don’t companies like 23andMe already do diagnostic sequencing?
They don’t do true sequencing, they just measure a tiny portion of the genome. So we’re trying to drive things to actually measure the entire human genome and do it accurately.
Why do you need the whole genome to make a good diagnosis?
A decade go that [the BRCA1 gene] was thought to be a predictive gene for breast cancer. Doctors would tell women if get they had that gene they had a 99 percent chance of getting breast cancer. It turns out that wasn’t true. They extrapolated from genetic studies of unique populations to the general population. But people have other genes and other traits that protect them from getting breast cancer.
We’re still at an early stage in genetics. I was one of the first people to have his whole genome sequenced, but we still can’t tell very much about me from my genome. We need to have definitive phenotypes for purposes of comparison.
Why are you specifying that contestants sequence centenarians?
These people are the Michael Jordan’s of longevity? They’ve already won that contest. We wanted to do see if there’s something unique they have in common with them—wellness genes that would protect you from cancer if you were genetically predisposed to getting it.
You’d match the genomes to the centenarians without necessarily understanding what you were comparing?
You’re not going to get a definitive answer just by looking at 100 genomes [of ordinary people]. Centenarians is a more interesting group than most because it emphasizes the wellness aspect rather than the illness aspect. And that’s what we want to emphasize, what’s going to get us over disease and to live to over a hundred if we want to.
If there’s so much promise here, why isn’t everyone already working as hard as they can on this? Why do we need a prize?
Well, there’s hundreds of mllions of dollars being invested in this space right now. The technology side is pretty miraculous. In a decade, going from a $3 billion federal program to where you can call a couple of companies to get your genome sequenced for $4000—that’s a pretty dramatic change, right? But that’s still probably order of magnitudes too high to make it generally applicable to large numbers of people. We need to get large numbers to make the [genomic] information meaningful.
People have focused on technology and cheapness, but they haven’t focused so much on accuracy, in part because there hasn’t been demand for it, so they’ve been comfortable with one or two or three percent error rate. If you’re interested in being diagnosed, you’re not going to be comfortable with that kind of error.
What happens when we get an accurate sequencer—that will it mean?
We’re defining the standards. This prize becomes the truth serum for all the claims from all these companies and all these technologies. Without an independent test, there is no ability to sort out the claims, and there are some pretty wild ones out there. The hope is there will be one or several winners out there. For guys and gals working in their garages, [the $10 million prize] is a strong incentive.
Do you think the technology is out there in someone’s garage?
It’s not in any of the production machines I’ve seen. But there are lots of new techs coming. I don’t think any of the [current] machines could win this contest.