In June 2000, Francis Collins and Craig Venter stood with President Clinton and announced that the first draft sequence of the human genome had been completed. At the time, there was a great deal of excitement about the potential of this achievement and how the genome sequence promised to forever change medicine. Yet, eleven years later at my annual physical, my physician didn’t pull out a genome tricorder to scan my genome. Instead, he put on a glove and probed and prodded me using examination methods that date back to Hippocrates himself.
Having been involved in genome science since its early days, I didn’t find this surprising. It had always been clear to me that the draft genome was just a reference and that we would need data from a large number of people before we could begin to make sense of what was encoded in the genome. Back then, however, the cost of sequencing was too great to seriously consider sequencing the genomes of hundreds, or thousands, of people.
Sequencing the first genome cost about of $3 billion and took almost 15 years to complete. New technologies that were developed along the way dramatically decreased the cost, reducing the time it took; but it was not nearly enough. In January 2010, my research sequenced an ovarian cancer genome and a germline genome from the same person—a project that took three months to complete. But in the past eighteen months, things have changed so dramatically that we’ve now begun to think that we will be able to sequence (almost) everyone.
In just the last few weeks a number of events suggest this day is close at hand. First, Illumina announced they would sequence an individual genome for $5,000—and discount the price to $4,000 for 50 or more. This is about the same cost offered by Complete Genomics. And today I received an e-mail from Knome offering genome sequencing and data analysis for $4,998. Not to be outdone, the Beijing Genome Institute e-mailed me its offer to sequence the exome—the known portion of the genome that encodes proteins—and analyze the resulting data for $999.
Given how costs are falling, I can easily predict that sequencing a human genome will cost about $2,500 within a year, fall to $1,000 within two years, and be $100 or less within five years (likely sooner). This changes everything.
I used to say, in all seriousness, that if I developed cancer I would mortgage my house to have my genome sequenced. Today, I could probably pay for the service with my credit card. But at a price of $1,000, I would have my wife’s genome sequenced for her birthday. And for $100, let’s face it, we would have both our genomes sequenced instead of going out for a Michelin-star meal. And I don’t think we’d be alone.
It’s simply no longer a matter of if but of when we’ll start collecting data on ourselves—and on everyone else. The questions now are what are we going to do with these data once we have collected them—and who will have rights to use those data and in what way?