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Direct-to-Confusion Genomics

When ARS Technica writer Cyrus Fairvar decided to dive into his own genome to dig up hints about his risks for diseases – by ordering up SNP testing from two DTC companies – he found companies were willing to offer him risk assessments, but he also found those results were "complicated."

Fairvar ordered genotyping services from 23andMe and a Belgian firm called Gentle Labs , which he says cost $100 and $1900, respectively, to find that he has a heightened risk for late-onset Alzheimer's, and a couple of pharmacogenomic issues.

As he sifts through and tries to make sense of his results from both services, which Fairvar provides in some detail, including his back-and-forth correspondences, what he finds is that DTC genetic testing is "not ready for prime time."

The Gentle Labs service covers the cost of a 45 minute consultation, but what Fairvar got was 20 minutes of counseling on Skype with a physician in Turkey who left him very confused about what his Alzheimer's risk actually is.

"I have good results for you!” she said, launching into the consultation. "You know that late-onset Alzheimer’s is the most common neurodegenerative disease in the world. You have a slightly increased risk. So maybe you have to do some exercise for your brain.”

The Gentle doctor went on to say that he has a roughly 3x increased risk of developing late-onset Alzheimer's. When he tries to find out what that risk really means, things begin to get murky.

"When I dug into Gentle's data, it told me that Gentle was testing specifically for the rs429358 SNP, and the company provided a pretty chart of my chromosomes to go with it. But nowhere on the site did it explain what a “3x” increased risk really meant," Fairvar writes.

He checked in with his primary care physician about these results, she was confused about why he would be paying for such results, particularly at such a young age.

Fairvar says he ordered his results from 23andMe last fall, just before the FDA told the company to cease offering health information with its genotyping results. The 23andMe service "detailed all kinds of health risk information," including his genetic predisposition for bipolar disorder (.15 percent), and stomach cancer (.28 percent).

But there was one big problem with the 23andMe test. Despite the specificity of the risk assessments it provided, the company also said its assessments apply to people of European ancestry, and that it "cannot yet estimate risk for those with multiple ancestries."

The company's haplogroup analysis calculated Fairvar's ancestry as 21.2 percent Middle Eastern and North African. So, what does that 21.2 percent mean for his highly specific risk assessments?

"Sometimes you can have a genetic variant that also occurs in other populations," 23andMe's Emily Drabant says. "We don't know," she admits.

"What I learned from the process, in short, is that [DTC tests are] not quite ready for prime time," Fairvar says.

"The current scientific limits are why the FDA forced 23andMe to pull their health risks section from their site for new customers. It's why Gentle backtracked on my Alzheimer's risk factor during a follow-up call," he writes.

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