Here are a few things you can buy with $200: one bluetooth-controlled fire pit, 100 lab-grown Impossible White Castle sliders, access to the 6.4 billion base pairs that make up all the DNA coiled inside your cells. Well, at least for the next 48 hours. Starting today, Cambridge-based Veritas Genetics will be lowering its $999 whole genome sequencing and interpretation service for just $199 for two days, or to the first 1,000 people who buy spit kits.
Why the dramatic price drop, which Veritas is taking at a loss? CEO Mirza Cifric says that it’s more than just a holiday-season gimmick. “We’re sending a clear signal to the medical research community that the $99 genome will be here in three to five years,” he says. “People might be thinking it’s still a decade away. We want to wake them up.”
This obsessive focus on the number of digits in front of the decimal on the whole genome price tag dates back to December 2001, when scientists gathered at a hotel outside of Washington, DC, to bask in the afterglow of sequencing the first whole human genome. And to grapple with the amount of money taxpayers had spent to finish it—$2.7 billion. For sequencing to become routine, they proposed, it had to cost no more than $1,000.
While somewhat arbitrary at the time, the figure emerged as a mythic technological totem in the world of genetics, sending a generation of DNA geeks chasing after it for the better part of the 21st century. The $1,000 genome became shorthand for the economic and psychological barrier that had to be broken in order for ordinary people like you and me to decide that a personal genome sequence was a worthwhile investment. Crack it, the thinking went, and the DNA flood would begin.
Except, it didn’t. In 2014, sequencing giant Illumina broke through the $1,000 genome basement. Two years later, Veritas—a startup spun out of George Church’s Personal Genome Project—began offering its $999 consumer-friendly genome sequence, complete with a slick phone app and on-demand video genetic counseling. Surely, everyone would rush to get all of their genetic source code sequenced now? Ehhh. Not so much.
That could be because no one has figured out a sexy marketing campaign for whole genomes yet. Or, more likely, because there are already much cheaper options on the market that will tell you something (but not everything!) about your DNA. And, crucially, consumers don’t really understand the difference.
Today, slightly more than a million people have had their whole genomes sequenced. Compare that to the 17 million estimated to have had their DNA analyzed with direct-to-consumer tests sold by 23andMe and Ancestry. They use a technology called genotyping, which takes about a million snapshots of a person’s genome. That might sound like a lot, but it’s really less than 1 percent of the full picture. Genotyping targets short strings of DNA that scientists already know have a strong association with a given trait. So say, for example, scientists discover a new gene that increases your risk of developing brain cancer. If that gene is not one that 23andMe looks at (because how would it know to look if the gene hasn’t been discovered yet), then you’d have to get tested all over again to learn more about your brain cancer risk. Whole genome data on the other hand, once you have it, can be queried with computer algorithms whenever a new genetic discovery gets made.
Here’s a good example of just how much more info is in a whole genome: Earlier this year, 23andMe got FDA approval to give consumers information about their BRCA1 and BRCA2 genes. More than 1,000 mutations in these genes are known to increase women’s chances of breast and ovarian cancers by as much as 75 and 50 percent, respectively. 23andMe’s test picks up the three BRCA mutations most commonly found in individuals of Ashkenazi Jewish descent, and geneticists have voiced concern that the results could leave people with a false sense of security. Veritas’ tests, on the other hand, scan for all of them and, according to the company, turn up five to seven variants of varying concern in those two genes for the average customer.
This kind of information is complex and subtle, and to avoid needlessly freaking people out, Veritas offers 30 minutes of free genetic counseling over the phone or videochat if there is anything concerning in customers’ results. Customers also have to go through a doctor to order the Veritas whole genome test. (Don’t worry, the company will set you up with a physician if your doc won’t do it.) And, like the 23andMe health report, Veritas’ test is not intended to be diagnostic; all it does is screen for information that might spur you to take further action.