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So You Want to Know Your Genome

In people's desire for this information, there's a teachable moment

In Woody Allen's comedy Love and Death, there's a scene in which a nobleman walks up to Allen's character, slaps him across the face, and says, "Shall we say ‘pistols at dawn?'" Allen responds: "We can say it. I don't know what it means, but we can say it."

And so it is with the burgeoning field of personal genomics, which last week saw the genomic testing company 23andMe handing out saliva collection kits to celebrities and politicians at the World Economic Forum in Davos, Switzerland. We too can write a check for a thousand bucks, spit in a tube, put it in the mail, and have a company crack open the cells floating around in our freshly FedExed saliva to examine hundreds of thousands of DNA variants hiding in our genomes.

We may not know what it means, but we can do it. Companies like 23andMe suggest they might tell us about various genetically determined personal traits and risks to our health.

For its part, the medical establishment is not buying it. An editorial from a recent New England Journal of Medicine -- aptly titled "Letting the Genome out of the Bottle" -- implies that personal genomics customers are wasting their money, and worse, their doctors' time. The authors lament these "premature attempts at popularizing genetic testing."

The editorial impugns commercial genomics on scientific grounds: It's not clear the tests measure what they're purported to measure. The companies are largely unregulated and the diseases they seem to be most interested in -- diabetes, cancer, heart disease --- are complex conditions determined by multiple genes and the environment. For that reason, even if these tests are accurate, they are unlikely to yield much useful information, the editorial argues.

And if a genetic test does reveal a customer to be at high risk for something, what can be done? Any recommendations are likely to be ones we hear every day: eat right, exercise, don't smoke. In other words, "Genomics, shmenomics."

These are all valid arguments. But they miss the point.

Some of these companies -- and I have interviewed executives at several of them -- are more medically oriented than others, but it's not clear any have ambitions to play doctor in the old-fashioned bedside sense.

They see themselves as portals: they are in the business of providing information that people want. It's the customers' nickel. Some will be interested in their genetic ancestry, some will start social networking groups based on their genomes, some may want to plan for a possible future with Alzheimer's disease and some may simply be curious about the genes controlling their earwax.

And yes, many will march into their doctors' offices looking for help reading their genomic tea leaves. Most physicians, at least for the moment, are ill-equipped to deal with this. But does that mean the appropriate response is to simply pat patients on the head and tell them to wait a few years until the New England Journal says it's okay?

That strikes me as both unproductive and naïve. Last year, a group of Canadian researchers announced that a common laboratory chemical could shrink tumors in rats. Within weeks, cancer patients were buying the chemical, purifying it to pharmaceutical grade, injecting themselves with it and comparing results with each other online.

Dangerous? Absolutely. But also inevitable.

Personal genomics will be no different (though probably less risky than shooting up one's chemistry set). The genome is indeed out of the bottle. Already customers are blogging about what they've found lurking in their own DNA. Technophile websites have sprung up to parse the meaning of specific variants. And in discussion forums at disease-specific sites, such as PatientsLikeMe, one finds more genomic information every day.

These discussions will only intensify: recent web chatter featured calls for genome sequencing free-of-charge for everyone. Apparently information really does want to be free. The sooner the health care system gets its collective head out of the sand and around this idea, the better.

I would argue that this is a rare opportunity: a chance for both doctors and patients to get up to speed on this stuff we inherit from our parents and all of the ways in which it affects our lives. It is an extraordinary teachable moment -- for patient and professional.

But if doctors think it's premature to talk about genomes, there are whole communities of folks who do not. And they're only a Google search away.

So yes, we can say "pistols at dawn." We may not know what it means, but the first shots have already been fired.