Your Genetic Profile, Now Available in Aisle 10: What's the Big Deal About Pathway, the New Take-Home DNA Test?

Attention, Walgreens shoppers, The Washington Post wants you to know about a new product going on sale:

Beginning Friday, shoppers in search of toothpaste, deodorant and laxatives at more than 6,000 drugstores across the nation will be able to pick up something new: a test to scan their genes for a propensity for Alzheimer's disease, breast cancer, diabetes and other ailments … For those thinking of starting a family, it could alert them to their risk of having a baby with cystic fibrosis, Tay-Sachs and other genetic disorders. The test also promises users insights into how caffeine, cholesterol-lowering drugs and blood thinners might affect them.

If this test sounds familiar, it should: It's little different than a number of others that have been available for years. Direct-to-consumer (DTC) tests for genes linked to common diseases hit the market with fanfare in 2007. Carrier testing, "for those thinking of starting a family," has an even longer history; doctors have been assessing people's risk of conceiving children with recessive-gene diseases such as cystic fibrosis and Tay-Sachs for decades, and last year a startup called Counsyl introduced an inexpensive test for over 100 such diseases that would-be parents can purchase with no need for a physician's approval. The test in the Post's article, made by a new company called Pathway Genomics, also analyzes people's ancestry. No news there, either: Genetic genealogy has been around for so long and is already so mainstream that it's the focus of a tremendously popular TV show.

So why is the Post playing this news big—its article runs over 1,000 words—and why is the author, Rob Stein, worried about what could happen once Walgreens starts stocking Pathway's test on its shelves? The decision to sell the test is "irresponsible" he writes, attributing the opinion to unnamed experts. The results "could give many buyers a dangerous false sense of security or, conversely, needlessly alarm them" because genetic tests aren't close to being able to fully and accurately assess people's risks of various illnesses. (The tests look only at some genetic markers; they don't cover anywhere near all the genes involved in common diseases, most of which haven't been found yet, nor do they generally account for environmental and lifestyle factors. Learning that you have a gene linked to a high risk of heart disease is a little like learning you have slightly elevated cholesterol: a good thing to know, but not the only thing you need to know.) Stein also quotes a prominent Stanford scholar calling the move "reckless." Then he notes that the FDA is concerned about Pathway's product. Apparently, the agency is investigating whether it should regulate the test because it "involves sending kits to consumers for them to collect their own DNA samples"—which, of course, is how all other DTC personal genomics tests work, too.

It's possible that Stein and the Stanford scholar and the FDA aren't worried about this particular test, per se, but about the savvy way it's being sold. Until now, DTC genomic tests have been available pretty much exclusively via the Internet. That means the customers are probably a selective group: people who know about the tests' existence, know which kind they want, know a fair amount about genetics, and have at least a little disposable income. (The leading test of ancestry and risks for common diseases, made by 23andMe, currently retails for $499.) "Selective" is another word for "small," and indeed, Internet-based sales of genetic tests have been unimpressive. As The New York Times recently pointed out, "two and a half years after beginning its service, 23andMe has only 35,000 customers. And at least a quarter of them got the service free or for only $25, instead of the hundreds of dollars on which the business model is based. Navigenics and DeCode [the two biggest competitors to 23andMe] have even fewer customers."

Pathway, however, may be able to jump the "selective customer base" hurdle, because the only prerequisite for coming across it and buying it is that you're a person who shops at Walgreens. You don't have to seek it out on the Internet. It's right there on the shelves with the Advil and the condoms, waiting for you to stumble on it. It's also cheap at $269. (Pathway has been shrewd about its packaging—what you buy at Walgreens is only the $20 test tube you use to collect your spit and send it off to the DNA lab. You pay the rest of the money later, by credit card over the Web. Who knows how many people will impulse-buy the test tube and never bother with the costlier scientific analysis?)

All of this could mean that Pathway's DTC genomic test will be the first one to reach a wide variety of people—including some who won't have a lot of knowledge about genetics and who may not know how much stock to put in their test results. That's what Stein, Stanford, et al are so worried about. Pathway's test does come with a comprehensive, easy-to-read, accurate packet of information about how the testing works and what important information it leaves out. But, of course, few people are going to read that packet before peeking at their genetic-risk profiles.

Luckily, anyone who reads the Post article will already know that some critics think DTC genomic tests are "too vague to provide much useful guidance." The Post is available at Walgreens, too. A humble suggestion: maybe the test should be stocked next to the newspaper?