Genetic Future

...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 absolute terms, but the immediate return in terms of useful, medically 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?