About a month ago, I finally got around to doing something that had been on my list for awhile- I ordered a genetic testing kit from 23andMe. The six-year old, privately-held company, was founded by Anne Wojcicki along with two others, and was given initial seed money of $3.9M by Anne’s husband (and Google co-founder) Sergey Brin.
The company offers “genetic testing for health, disease, and ancestry” and uses a saliva sample to crack each person’s genetic code. My primary interest was simple curiosity and a love of things on the forefront of science and technology. I thought it would be neat to understand my ancestry and perhaps I harbored a secret hope that my genetic code would uncover some latent gene for an X-Men like super power. <rubs hands mischievously>
Submitting the Sample
The small package arrived shortly after I’d signed up via their website and paid my $99 bucks. Is this a fair price? Hard to say- they likely had high upfront costs, but my gut tells me that each incremental sample is pennies on the dollar to analyze. Knowing nothing about their business model, I’m just going to say that at $49 bucks, I bet they would make it up on volume. For a couple, it sets you back $200 and that feels a little steep. If their website is any guide, they are desperately looking for ways to continue to monetize beyond the one-time analysis. The site is full of vaguely useful articles and videos on genetics and it has a whiff of pseudo-science around their “Health Recommendations”. Not sure I would have gone the “Dr. Oz” route of offering generic advice couched in terms that are so obviously designed to protect their liability.
Anyway… in order to submit your sample, you need to fill a small tube with approximately a teaspoon of saliva. For me, this was a herculean task that required me to hide in the bathroom (a quirk instilled by my Mother- a lady does not expectorate in front of others!) and spit into the tiny tube approximately a million times. Seriously, my tongue was sore by the time I had hit the fill line. They sternly caution you that bubbles don’t count- it’s gotta be full-on spit. Tony, on the other hand, apparently has a large amount of saliva just hanging out for this express purpose because he was able to complete the task before the door to the bathroom was even shut. An informal poll of friends who have also taken this test suggest this is a “guy thing”.
Then we sealed our samples and nestled them into the padded and explicitly labeled boxes (they do not want genetic confusion in multi-person households!) and sent them off to the great gene grinder in the sky. It felt a lot like sending saliva off to the Wizard of Oz.
Turns out it takes a while to run that hard earned spit through whatever Wonkian
I imagine the machinery looks something like this
machinery is required, so we sat around, wondering for about a month. During this time, I felt a vague sense of having set something in motion that I couldn’t stop. The sample was out there, with no way of recalling it. A good friend of mine, who is involved in the field of genetics, warned me that some worry about the intentions of the company- that they might sell my data and further, to be very careful about interpreting my results. Good points of caution to be be sure, but being a purposeful optimist, I refuse to to worry about some darker or more nefarious purpose, however I concede that they may make a buck off me down the road. On the latter point, although I am nothing more than an armchair science nerd, I feel that my grasp of the underlying science is solid enough* (*some restrictions may apply) to keep me from freaking out over deviation from the mean.
Finally, the long awaited email arrived- my data had been processed and was ready to be consumed. Oddly, the health data was available first and it took another week for the ancestry picture to be revealed.
Again- the kludgy website had to be navigated. No, I don’t want to read your dumb reports that are plastered all over the front page- I want MY RESULTS! That’s all I care about (and don’t get me started on their useless iOS app!). Once I find the right tab, several categories are revealed: Health Risks, Drug Response, Inherited Conditions, Traits.
The Health Risks section is pretty interesting and is the area of the tool where you have to separately agree to see your results for Alzheimer’s Disease. The results are displayed as a long list of both familiar and mysterious sounding aliments, with the top part of the list having more detailed info including: My Risk (%), Avg. Risk (%), Compared to Avg (Ratio), and a confidence score (4 star rating) for the studies supporting the risk percentages. The lower half of the list only displayed an upturned red arrow for elevated risk, green for decreased. My results listed 23 conditions that I have an elevated risk for- more than enough for any hypochondriac to get on speed dial with her doctor, but after a quick scan, nothing stood out as “Scary, call the doc,” which ironically left me feeling slightly deflated. I have an elevated risk for gallstones <yawn>, Alzheimer’s (but only slightly), and Restless Leg Syndrome (which I’m still not convinced is just a made up thing).
It did call out that I have an elevated risk for Cleft Palate, which I do, in fact have. Although my risk was only slightly higher, it noted that maternal smoking and alcohol consumption are environmental factors that compound that risk- I had those too, so that probably tipped the scales in my case. Luckily, I’m no worse for wear and can make a funny like squeaky noise through the repaired scar on the roof of my mouth (see this amazing feat for the low, low price of a drink).
The Drug Response section was interesting primarily because it confirmed what I had
Pretty much me after anesthesia
discovered through years of deep and highly unscientific testing- I metabolize caffeine quickly and it doesn’t negatively affect me. So, it’s pretty sweet to know that I can continue to enjoy my fond addiction with abandon! The second interesting thing is that it predicted that I have moderately greater odds of something called “Postoperative Nausea and Vomiting” (PONV). And oh yes, Dr. Crick, I do! Every time I have had my teeth worked on under anesthesia or any kind of surgery, I am like the Exorcist, spewing like crazy. I had no idea that this could have any genetic component and I feel slightly vindicated knowing that it’s “in the genes.”
The next section, Inherited Conditions, was a complete bust- out of the 50 or so things tested for, there wasn’t one thing that applied to me. Beyond learning that there is a condition called “Maple Syrup Urine Disease” (yes, really) it was pretty unremarkable and left me wondering if all the conditions are so rare that essentially no one gets “a hit”. I guess that’s a good thing. Nobody wants to learn they are a carrier for something heart-breaking like Tay-Sachs disease.
The Traits section highlights included learning I have more fast-twitch muscle fiber (so no excuse for slow-poking it on runs!) and that I can indeed taste bitter flavors. Oddly, it did not flag me as having an “alcohol flush reaction” but there must be some other factor that influences it because anyone who knows me that you only need to bring a glass of wine near me and I light up like splotchy wallpaper.
Who’s your Daddy?
The Ancestry section gives you a peak 500 years into past and tantalizingly, tells you how much Neanderthal DNA you have. I’m completely tickled to report that I am in the 99% for Neanderthal DNA at a staggering 3.3%! So, now that I am a genetic minority, I am putting it on my resume. You think your family has overcome adversity?!
Less unexpected was the news that my family is exclusively (99.9%) Northern European- guess we weren’t travelers and stuck to one relatively small geographic region (so basically, Hobbits).
The final section in ancestry shows you (should you opt-in) how many genetic relatives you have already in the 23andMe database. I apparently have 994 DNA relatives as of today. Oh man, by the holidays, my Christmas card list could be ridiculous. None of these relatives are in the “close family” or “1st & 2nd cousin” spheres, so it looks my parents where both pretty well-behaved. (Just teasing, Mom & Dad!)
The Brass Tacks
So, is shelling out $99 bucks to have your genetic code laid bare worth it? If you enjoy ancestry/genealogy or geeking out on science-y things, then, Yes! Though it would be a hell of a lot more attractive at $49. However, if you are a hypochondriac, I’m gonna say No. If you can’t filter information or if finding out you have a slightly higher tendency to produce body odor is going to make you painfully self conscious, then I’d keep a lid on Pandora’s box. Happy Spitting!