The scoop on cracking your own (genetic) code

A few years ago, when I asked my husband for a hint about one of my Christmas presents, he said, “It’s pretty much your version of porn.” When it finally came time to open my gift, I wasn’t disappointed. 

Get your minds out of the gutter. There was no dirty magazine or scandalous video—just a little cardboard box with a vial meant for collecting my spit. Not in a sexual way.

Anyone who knows me knows I love to analyze myself. I’m a sucker for personality quizzes, food diaries, Fitbits, mood apps, and high school journals. I was as happy as a kid on Christmas morning when I found out that all I needed to do to gain access to my genome was to spit in a plastic beaker and toss the goods in a mailbox. Well, as happy as a Quantified-Self-obsessed hypochondriac backseat doctor on Christmas morning.

Back in 2012, paying $99 for 23 and Me’s Personal Genome Service got you, just a few weeks after submitting your sample, a detailed report about your genes. The information provided covered less than 1/10 of 1% of your entire genome, but still more than 250 different traits—from potential health risks, to how well you might respond to certain drugs, to which continent your forebears originally hailed from. I was in heaven (and 0.2% from Sub-Saharan Africa).

Never mind that my genetic information wasn’t particularly useful; I didn’t have any anomalous SNPs (pronounced “snip” by those in-the-know, “SNP” refers to a variation in a single position within a DNA sequence). It was still fun to confirm that, just by analyzing my spit, a machine could tell that I had wet earwax, curly hair, and a predisposition to obesity (finally, the excuse I’d been waiting for!). 

I derived so much pleasure from the whole genetic-spelunking endeavor that I told all my friends to order their own kits immediately. Except by the time most of them got around to it, they could no longer find out much except their ethnic origins. 

In November 2013, the Food and Drug Administration sent 23 and Me a letter requiring them to cease providing health reports. Ancestry information and raw genetic data were still OK, but no more would spit-senders receive statistics on their odds of developing Alzheimer’s or suffering from restless legs syndrome. 

Classifying 23 and Me’s personal genome service as a medical device "intended for use in the diagnosis of disease or other conditions or in the cure, mitigation, treatment, or prevention of disease,” the FDA’s letter stated that it was concerned about the “potential health consequences” that could result from "false positive or false negative assessments for high-risk indications.” For example, someone told they had tested positive for BRCA-1 (the breast cancer gene made famous by Angelina Jolie) might opt to have a prophylactic mastectomy without having their risk confirmed in a professional medical setting, thus possibly undergoing a devastating yet unnecessary surgery.

Of course, concerns like these are the reason the FDA exists. But after their ruling on 23 and me, amateur gene sleuths like me were left without a way to get arcane knowledge about what maladies might or might not afflict them in the future. 

Or so I thought.

Recently, I was curious about whether I possessed a specific mutation not covered by 23 and Me’s health analysis. Because I opted in so early in the game, I still have access to my health data on their website. But their health reports didn’t screen for this particular SNP. I thought I was out of luck. Until, after a few hours of deep Googling, I discovered a loophole.

Remember, 23 and Me doesn’t just provide health and ancestry reports, but it also provides raw genetic data. Data that is meaningless to the uneducated eye, but which can be run through a number of third-party applications to produce the answers medical navel-gazers like me are looking for. 

GeneticGenie and LiveWello are websites that offer analysis from 23 and Me results. You upload your raw data, and they give you insight into specific traits. While GeneticGenie is focused primarily on supplement advice, LiveWello provides a variety of results in subcategories such as allergy, clotting factors, and gluten intolerance.

Why can these sites get away with giving out health info, while 23 and Me cannot? Because they’re simply analyzing data, rather than providing it—so they’re not technically medical devices. But these interfaces are not as user-friendly as 23 and Me’s once was either, and people unfamiliar with genetics or medical language might grow easily frustrated with them. 

Not to mention scared. One of the SNPs analyzed on LiveWello told me I might have an elevated risk of leukemia—I think. But that’s all the website said. No further explanation was offered, no way to minimize risk or find out about other lifestyle factors. Unlike the plethora of information and hand-holding 23 and Me used to provide with its health results, LiveWello was bare bones and seemed destined to lead me into endless nail-biting Google searches.

Finally, I understood what the FDA was so worried about. Until Internet gene analysis tools can offer a higher level of counseling and guidance, they may be too much for the general public to handle. I mean, what good is knowing you may—or may not—get some terrible disease, if there’s nothing you can do about it? 

Might be time to get into geneology.