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Commercial personal genomics has some real limitations. The validity of the tests will probably take years to sort out; determining how well they measure what they’re supposed to measure is not a trivial exercise. And personal genomics can indeed generate real anxiety. Here I speak from experience. I’m a participant in Church’s Personal Genome Project, which in its initial phase is working to partially sequence the genomes of 10 volunteers and make their genetic and medical information publicly available. I’ll soon learn the sequence of all my more than 20,000 genes.

In the meantime, I’ve already received data on 500,000 of my genomic markers–specific genetic variations that can be detected with microarrays rather than sequencing. Eager for a quick-and-dirty analysis of what they meant, I sent them to a low-budget single-nucleotide-­polymorphism analyzer, SNPedia. SNPedia is a wiki-based website intended to foster communication about genetic variants and let motivated early-adopter types begin to parse their meaning. From it I received–at no cost–a report annotating 270 markers from my genome.

That turned out to be more than enough to confuse and agitate me. Do bad versions of four risk genes for multiple sclerosis add up to four times the risk? What is “exfolia­tion glaucoma,” anyway? It took a few days, but I got over it–probably because we still don’t know very much about the genome, so I didn’t put much stock in my genotypes and what traits they were supposed to be associated with. My scan did not reveal any devastating single-gene conditions (although in fairness, it was not designed to); I am fortunate enough to have group health insurance; and I tend to be much more concerned with making it through the day than with whatever genomic time bombs I may carry.

Several studies have shown that disclosing genetic-risk information, especially probabilistic risk information attached to complex problems like heart disease, Alzheimer’s, and cancer, very rarely provokes an end-of-the-world response. Indeed, the results of genetic tests can often seem mundane. The complaint I’ve heard from some geneticists is that the advice offered by personal-genomics companies amounts to common sense: “Eat right, exercise, don’t smoke, lose weight, yadda yadda.” Obviously, you don’t need to drop a grand to get that kind of advice.

But I would argue that it doesn’t matter. As a participant in the Personal Genome Project, I’ve been asked more than once, “So … what will you do with your genome?” I have two boring stock answers, at least for now: not much, and I don’t know. But I do want to learn about my genome. I see personal genomics as akin to the first personal computers. What could we actually do with the Commodore 64 or the Apple II? Word-process? Occasionally. A bit of Lotus 1-2-3? I guess. Mostly, I remember software crashes and hardware freezes. In my house we managed to play a lot of solitaire and Minesweeper.

This is where we are in the era of personal genomics: some modest amusement, a few interesting tidbits, a bit of useful information, but mostly the promise of much better things to come. The more people are allowed–encouraged, even–to experiment, the sooner that promise can be realized.

It’s time for physicians, scientists, and regulators to write themselves a prescription for reality. After years of excited promises about the various medical miracles that would be wrought by the completion of the Human Genome Project, now we are told by some that delivery of our personal genomic information ought not to be among them, at least not yet. But it’s too late for that.

Misha Angrist is an assistant professor at the Duke University Institute for Genome Sciences and Policy.

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Credit: Phanie/Photo Researchers, Inc.

Tagged: Biomedicine, genome, gene-sequencing technology, gene expression, genetic tests

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