An article in the NY Times entitled "Gene Map Becomes a Luxury Item" introduces us to Dan Stoicescu, one of the first two customers to fork out $350,000 to get their genome sequenced by the personal genomics company Knome (pronounced "know-me" - get it?).
The article is well worth a read for anyone interested in the future of personal genomics, but one theme stands out for me:
Biologists have mixed feelings about the emergence of the genome as a luxury item. Some worry that what they have dubbed “genomic elitism” could sour the public on genetic research that has long promised better, individualized health care for all. But others see the boutique genome as something like a $20 million tourist voyage to space — a necessary rite of passage for technology that may soon be within the grasp of the rest of us.
I'm firmly in the second camp. In a previous post about Knome I noted that, "The willingness of wealthy early adopters to pay excessive amounts for untested technology is a big driver of progress" - in other words, Stoicescu and his fellow Knome customer are subsidising the costs of technology development that will eventually make genome sequencing cheaper for you and me.
Many new technologies start off as expensive yuppie toys, and rapidly tumble in price until they become accessible to the rest of the world. Worrying about "genomic elitism" is like someone back in 1981 worrying about "portable computer elitism". If a technology has broad appeal and utility - and in a few year's time, personal genomics will have both those things in spades - the price will come down quickly. You'll be chatting to your next-door neighbour about your kids' DRD4 genotypes before you know it.
Unfortunately for the early adopters, we currently know so little about the function of most genetic variants that their full sequence won't give them much more information than they could get from 23andMe or deCODEme, for 0.3% of the price. It's true that they're likely to find a few severe recessive disease variants, but these will have little or no effect on their own health, and are unlikely to affect their children (unless they're unfortunate enough to mate with someone who also carries a mutation in the same gene). There's also a low probability that they'll find something really nasty like a Huntington's disease mutation. But overall, the expected utility of this information is low - certainly not worth the $350,000 price tag, unless you're wealthy enough to not have to worry about that kind of money.
The true value of a genome sequence - identifying and deciphering the thousands of small changes that influence our risk of both rare and common diseases during our lifetime - won't come until we have complete sequences from hundreds of thousands of people, along with thorough medical information to find associations between variants and diseases (cue the Personal Genome Project). By that time, costs for full genome sequencing will be dramatically lower - hell, even poor scientists like me will be able to afford it!
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1 comments:
"I'd rather spend my money on my genome than a Bentley or an air-plane"
Dan Stoicescu
Without even looking at his genetic "portfolio" I can assure you Mr Stoicescu
lacks the empathy gene. I suggest he - and those like him - stop wasting money
on themselves and invest in humankind via charity, creating foundations, etc.
Those who have done so will tell you that there is no greater return.
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