(UPDATED: See below.)(NOTE: This is the first of two posts taking a close look at Knome. For part two, which examines Knome’s business model and how its service works — based largely on an interview with Knome CEO Jorge Conde — see here.)
First it was genomic pioneers James Watson and Craig Venter. Next up are the first ten volunteers in Harvard geneticist George Church’s Personal Genome Project. And now just about anyone can have their entire genome scanned in loving detail, courtesy of Knome, a Cambridge, Mass., startup that’s launching its service today.
Anyone, that is, who can spare $350,000 to cover the cost of sequencing and subsequent analysis and interpretation of the results. And who’s willing to wait in line, since Knome’s initial service will only be available to 20 people. (See the company’s press release here.) I’ll have more on Knome’s business and how the service will work in a subsequent post, which I’ll link to here when it’s done. (UPDATE: That second post is now up here.)
We’ve extensively covered personal-genomics startups such as 23andMe and Navigenics, which along with DeCode Genetics’ DecodeMe are offering individuals a first broad look at their personal genetic makeup. This is a big deal for a number of reasons, not least of which is the fact that your genome has played a major role in making all of us who we are. Our DNA links us not only to family and ancestors, but to groups of people scattered across the globe who share one or more of our particular genetic quirks. In no small measure, our genomes define what it means to be human.
All this previously invisible information is now increasingly accessible — albeit at first to those with the means to pay for it — and that’s likely to have major repercussions for individuals and society as a whole. For an initial take on that subject, see here.
Companies like 23andMe, however, don’t provide a full readout of a person’s DNA so much as a kind of abbreviated map to the genome. (These companies scan for particular DNA letters — technically known as single-nucleotide polymorphisms, or SNPs — that are known to vary among individuals. Collections of SNPs serve as a kind of catalog to much of the genome.) That shorthand map is still potentially useful in a number of ways, such as tracing ancestry or calculating your genetic predisposition toward heart disease or diabetes. By definition, however, such bare-bones SNP maps will also miss things — perhaps a lot of them. They’re the genomic equivalent of rough first drafts, which will undergo continuous revision as scientific understanding grows, SNP-scanning technology advances and sequencing costs fall.
Knome, by contrast, plans to offer its customers the whole genetic kit and kaboodle — a full readout of all six billion DNA “letters” of your genome. Genomics just doesn’t get any more personal than this. To put this in perspective, 23andMe or DecodeMe between 600,000 and a million SNPs. (The costs to the customer for a SNP scan is roughly $1,000 to $2,500, depending on the company.) In a scientific sense, a whole-genome sequence bears the same relationship to a SNP map that reading a book does to skimming skimming its index. Both expand your knowledge, but one is vastly richer, more detailed and illuminating than the other.
More after the jump:
Of course, whole-genome sequencing isn’t remotely cheap: The Human Genome Project spent upward of $300 million assembling the first full genetic map, and Craig Venter’s genome — part of which was done at his then-company Celera Genomics — cost an estimated $70 million. One notable aspect of Knome’s launch is that it puts a firm upper limit on what whole-genome sequencing costs today, using modern sequencers that decode DNA far more quickly than was possible even a few years ago.
Don’t be surprised to hear critics kvetch about “celebrity genomics” or knock Knome for catering to the rich and famous once the word gets out. Although the company isn’t divulging the identity of anyone who’s expressed interest in the service — no one’s been sequenced yet, by the way — it’s clear that Knome’s first customers will be well-heeled, since no one else could possibly afford the luxury of a whole-genome scan.
As I’ve argued previously, however, celebrity genomics is likely to be a passing phase. Sequencing costs are falling rapidly — just yesterday, for instance, Massachusetts-based Intelligent Bio-Systems said it will release a sequencing system that can crank out a full genome in 24 hours for $5,000. Plenty of other companies are on the case as well, so Knome’s prices should fall pretty rapidly — if, that is, they’ve got competition, which they almost certainly will.
It’s also worth remembering that whole-genome sequencing still only represents the beginning of our genomic adventure as a species. While Knome will presumably deliver its customers a genetic map that will stand the test of time, fast and cheap sequencing will also make possible biological explorations that we’ve barely been able to imagine so far. I’ve written elsewhere about the possibility of a “human microbiome project,” one that would sequence the zillions of different intestinal flora that live in symbiosis with our digestive tract. The genetics of tumors might finally yield their secrets, and it could even be possible to track the genetic changes that accumulate in cells over time, work that could provide important clues to understanding — and possibly halting or reversing — the aging process. Of course, we might also end up in a dystopian society like that depicted in the movie Gattaca, in which our genetic profiles are scanned at birth and used to assign us to a particular social caste.
In other words, hold onto your hat. Things are only going to get weirder from this point on.
UPDATED: Expanded and rewritten throughout.