Access to Personal Genomics
November 17, 2007
Personal DNA sequencing is here. The New York Times has an excellent story by Amy Harmon on what happens when you get your own DNA sequenced. She had about half a million SNPs sequenced by 23andMe, a personal genome start up. In the article she explores both her hesitancies and exhilaration in discovering her genetic self. She writes:
Logging onto my account at 23andMe, the start-up company that is now my genetic custodian, I typed my search into the “Genome Explorer” and hit return. I was, in essence, Googling my own DNA.
I had spent hours every day doing just that as new studies linking bits of DNA to diseases and aspects of appearance, temperament and behavior came out on an almost daily basis. At times, surfing my genome induced the same shock of recognition that comes when accidentally catching a glimpse of oneself in the mirror.
She annotates the process of how each gene she discovers in her self is measured, contrasted and reckoned with — a very irrational process in fact.
For instance, I tragically lack the predisposition to eat fatty foods and not gain weight. But people who, like me, are GG at the SNP known to geneticists as rs3751812 are 6.3 pounds lighter, on average, than the AA’s. Thanks, rs3751812!
There will be a huge appetite for understanding what these little numbers mean, and an entire industry trying to explain sequence results is already quickly rising. My friend Ryan Phelan is involved in one of these, DNA Direct, which will counsel patients on interpreting their DNA tests. None of the test makers offer counseling.
For now there are two companies that offer substantial (by 2007 metrics) sequencing to anyone willing to pony up the $1,000. Both are using technology from Illumina, based in San Diego.
$985 (PayPal only!)
One million SNPs
If you feel that you’d just like to wait until the price drops, I think you’ll wait a long time. My hunch is that the $1,000 cost will remain flat for a long time. What will change will be the numbers of SNPs you get done for that one grand. Right now, one million SNPs is just a tiny fraction of your total DNA, and only 10% of the 10 million SNPs in your body, but even this small amount spread widely over your chromosome can tell you something. More SNPs would be better. The curve of improvement will be a lot like computers, which still cost $1,000 twenty years later, but now they are a million times better. In 20 years you’ll get a million times as many base pairs (not just SNPs) sequenced for the same price.
I’ve singed up for both tests and will report my experiences as quickly as they are delivered.
I am fully aware that much of this genetic data is not useful to a layman like me at this point. As one VC says in a very good article in Portfolio,
“I tend to be more on the skeptical side for a genomics consumer play because, by and large, the information is not useful to the individual,” says Doug Fambrough of Oxford Bioscience Partners, a biotech venture capital firm headquartered in Boston. “First of all, the information is hard to understand for anyone who is not a trained molecular biologist. It has to be boiled down. Also, the science has not yet arrived. We can tell a single trait here and there, but what people really want to know is how this affects their life. We can’t yet make accurate predictions about this.”
But I am eager to get my genes sequenced primarily as a type of school, to increase my genetic literacy. It’s a new language, syntax, and world view, and I want to be conversant in it. Your own genome is the best teacher. Whatever medical knowledge comes about is a bonus. But even without life-altering news, this is another step in self-knowledge.