The plan, announced in an NY Times article today, is described as “essentially a publicity stunt” – the proceeds will be donated to the X Prize Foundation, a charitable trust devoted to providing cash incentives for reaching technological breakthroughs. The breakthrough that Knome is most interested in seeing achieved, of course, is the goal of the Archon X Prize for Genomics: a reward of $10 million for the first group to sequence 100 human genomes in 10 days at a cost of under $10,000 per genome. (Given the currently astonishing rate of decline in sequencing costs it’s entirely plausible that the Prize will be claimed this year.)
Knome currently charges just under $100,000 for a complete genome sequence, so if the winning bidder sneaks in under this mark they are ostensibly getting a bargain. But in fact any healthy person who pays this price for their own genome sequence expecting any substantive return on their money is headed for disappointment. Even the opening bid of $68,000 is way too high, for two reasons:
- The current rate of cost reduction means that waiting just a few months will likely save you tens of thousands of dollars. Complete Genomics is geared up to offer whole genome sequences for $5000 at their commercial launch in June; well-established sequencing company Illumina has discussed a $10,000 commercial product (potentially with higher quality) to be offered by the end of the year. Interpretation of the sequence will cost extra, of course – but it’s hard to justify paying $58,000 for this service, especially given that…
- The information content currently interpretable from a genome sequence is too small to justify such a massive outlay. We know a little about the common small-effect changes associated with common disease risk, but almost all of these can already be captured very effectively with a $399 SNP chip from 23andMe. The value of whole genome sequencing is capturing the rare variants that can’t be captured by a SNP chip – but we currently have an extremely limited ability to interpret the functional importance of these variants.
I wrote about this in a lot more detail late last year (back when Knome was charging $350,000 for its service), and pretty much everything I said then still applies:
…right now obtaining a complete catalogue of the rare variants in
your genome is not a great deal of use for most people: we could
probably confidently assign disease-causing status to perhaps a dozen
or so mutations (most of which would only cause disease in your
children if you had the bad luck to mate with someone carrying
mutations in the same gene), and tentatively tag a few hundred or so as
likely candidates. The majority of the monsters in your genome, on the
other hand, would remain hidden in the noise – especially those lurking
in the vast non-coding areas of the genome in which function is
currently almost impossible to decipher.
So the major advantage of whole-genome sequencing is largely defused
by our lack of knowledge about how the genome operates. In other words,
compared to chip-based personal genomics companies a full
genome sequence provides a hefty dose of extra genetic information in
relevant information is likely to be pretty small.
There are other reasons to pay top dollar for a genome sequence: for
the status that comes with being an early adopter, or simply as a way
of subsidising the development of genomic technology (Knome’s first
customer described it as “a kind of sponsorship“)
– although in the latter case I’d suggest that donating the money to a
research funding body would have a substantially more effective impact.
A more serious motivation comes from those suffering from a rare genetic disease for which the underlying mutation is currently unknown – for some such patients whole-genome sequencing may be the only feasible way to identify the causative variant. For the rest of us, however, the clinical value will be marginal for the next couple of years as the science plays catch-up with advances in sequencing technology. Here’s a graph to illustrate my point:
We’re moving fairly rapidly along the horizontal access, but we’re not yet at the point where (for most of us, at least) the information provided by a personal genome sequence justifies the cost. Reaching that point will require continued investment in research into the genetics of human variation and disease – which is why I get so angry when I hear arguments that such research is a waste of money.
So, how much is a genome sequence actually worth? Again, I’ll quote my previous post:
It depends on who you are, and why you want it. For someone
suffering from a rare genetic disease with an unknown mutation, that
sequence could make a huge difference – potentially allowing a more
accurate prognosis, genetic counselling, and pre-natal diagnosis to
prevent passing on the disease to children. For the rest of us the
benefits are currently pretty small and will likely remain so for the
next few years; and by the time the average health benefits of having a
genome sequence become non-trivial, the sequence itself will likely be
cheaper than many standard diagnostic tests. At that point the decision
is straightforward and personal genomics will become mundane.
For those of us with a strong interest in human genetics the
critical point is likely to be reached substantially earlier. I
certainly can’t afford Stoicescu’s lavish price, but I’d fork over a
few thousand bucks to take a peek inside my DNA. I’m under no illusions
about the likely meagre health outcomes, but if there are any obvious
and unpleasant surprises in there I want to know.
I can promise you this: well before the price of a retail genome sequence dips below the magical $1000 point I’ll have my own sequence sitting on my hard drive.
I’d be interested in getting a sense from readers about their own cost/value projections for genome sequencing: are you interested in getting your genome sequenced, when do you expect to do it, and how much would you pay?