Thursday, March 22, 2012

What the Genes Said

Well, I'm already pretty disappointed in how this privatization thing is working out (because of Blogger, not because of you guys!) since apparently Google Reader doesn't pick up new posts anymore.  I have 75+ readers, and the last post got 8 pageviews in the 36 hours after it was published, which indicates that either not everyone got the readership invites, or most people rely on Reader or a similar service for updates (this is why I struggle to keep up with a couple of private blogs that I read, so I totally understand the issue). Or people are just busy, I guess I shouldn't let my ego discount that.  Oh well, I will just keep up the writing and hope that people find a way to read if/when they want.

One suggestion: I put notifications about new posts on my Twitter feed, so you can follow me at Cammy4B if you are interested in subscribing to that.

Okay, now the real post topic: Genetics.  Specifically, I recently got the biomarker analysis services offered by 23andme.com.  For those of you not familiar with it, they send you a kit, you send back a saliva sample.  They test your DNA for dozens (hundreds?) of different biomarkers for different diseases, traits, conditions, etc.  This is NOT a genome scan.  They have a specific set of loci that they are focusing on, based on published literature showing associations between your genotype at those specific sites and various conditions of interest.  

Before I talk about what mine told me, a couple of caveats.  I'm a biologist, and so I definitely did not approach this naively: just because gene X is associated with Condition Y, it does not mean that it is the ONLY gene that affects that condition, or that environmental factors don't play into the expression of the gene or overall risk for the condition.  It just means it is the marker that, in the literature *so far*, seems to be the most reliable predictor on a relative scale. Genes are predictive, but when it comes to polygenic physical traits (not specific, mutation-linked diseases) or behavioral conditions, they aren't condemning you to something for sure. For example, apparently my biomarker for OCD indicates that I'm not at elevated risk for the condition, but I still have major anxiety/obsessive tendencies. Also, it means it doesn't pick up on other things that they haven't included a marker for.  For example, I'm allergic to codeine, but it didn't pick up on that because they didn't have/test a marker for it (again, this is NOT a genome scan).  So this analysis is interesting but not a panacea.

Another caveat is that a lot of the markers are based on just one or a few studies, and the study population may not have been of the same demographic or lifestyle background as you.  Given the standards for controlled experiments, most studies are based on fairly homogenous sample sets (Asian women between ages 20-30, white men ages 18-24, etc etc).  This may or may not affect how applicable the results are to a random person in the population.  They are likely *very* close predictors, given how tiny the genetic variation is between people of different ancestries/sexes/whatever, but it is something to keep in mind when you assess your results. It's probably more of an issue for people who are racial minorities in the US, as the studies most often used caucasian test subjects.

One other thing if you're considering getting this is that if you're interested in tracing ancestry, men get a lot more for their money than do women, because they can trace both maternal and paternal lines using the mtDNA and the Y chromosome, whereas women don't have a Y chromosome and can only trace their matrilineal ancestry. This didn't matter to me, as I have a well-documented family history and was more interested in the disease/trait markers, but if you were adopted or have another reason to be curious about your ancestry, it's something to consider.

Okay, hope I didn't bore you before I got to the show-and-tell part.  A few things that I found striking about my profile:

-I maxed out every measure of addiction risk/dependency for every possible substance, from caffeine to heroin.
  --Besides a solid coffee habit, I have never dabbled with drugs, partly because I know that I form habits at the drop of a hat.  That's apparently a good thing, since this told me that in at least one case, if I did become an addict, I'd be an even more intense consumer of the substance than the average addict.  Ixnay on the ehtmay for me, lol...

-My genotype predicts that I have a "lower tendency to overeat" than average.  If they only knew the half of it...

-Higher than average risk of stress-related vomiting.  I've never had an issue with purging (I tried it a few times and was so awful at it that I never tried again), but I do actually get incredibly nauseous when I'm upset and used to stress-vomit as a kid.

-They test a variety of markers for BMI/obesity risk, and on about 90% of them I came out as being predisposed to being lower than average BMI, which was a relief, I have to say.

-Apparently people with my genotype have "substantially increased odds of remission from depression when treated with Elavil, Paxil, Effexor, or Celexa"
 --This was interesting, because I've been very obstinate throughout my therapy history about never going on any kind of medication to help with the ED issues/behaviors (I've had antidepressants, anti-anxiety meds, non-birth control hormone treatments, etc etc pushed on me).  For the past year or so depression hasn't been much of an issue for me--although it definitely has in the past--so this is something to keep in mind if it's a debilitating issue in the future, I suppose, although I'd still need to do a ton of research before starting anything.

-Apparently, despite doing well on all of the IQ biomarkers, people of my genotype at one marker are "much less efficient at learning to avoid errors." Interesting, given my Type-A/perfectionist personality, but it is what it is I suppose.

-I have "sprinter type" muscle physiology, which may explain why even at the height of my running, I was more about speed than distance.

-I have a ton of pregnancy risk factors (not even considering the ED history).  Looking over all the reproduction-related problems I'm at an elevated risk for, it suddenly doesn't seem surprising that my mom has miscarried half over her pregnancies, given that we share most of the same genes (my mom got her 23andme done too, and it has a thing where you can link accounts with family members to see who got what from who).
  --As I've mentioned at various times in this blog's history, I don't envision myself ever having children, so this didn't bother me as much as it might some people, but it did feel significant.

-I should thank my mom for breast-feeding, because apparently people with my genotype can gain up to 6-7 IQ points when breast- vs bottle-fed.

-I have always thought that I had a pretty high pain tolerance. I'm extremely stoic about injuries and of course all the self-inflicted discomfort involved in an ED probably speaks for itself.  But apparently people of my genotype at that marker tend to be *more* sensitive to pain than average.  Interesting example of mind over matter?  It would be fascinating to know how that interacts with any predisposition to addictive tendencies, if being more sensitive can increase the biochemical response to pain (adrenaline, endocannabanoids, etc) that can actually create that sick sort of high that comes off of starving, hurting, peeling your soul away from your corporeal existence in an almost clinical way.  No marker for that yet, lol...

-Apparently people of my genotype tend to consume more sugar than average, thus my sweet tooth and Ice Cream for Dinner habit have a genetic justification. ;)

-If infected with HIV (let's try to avoid that, shall we?), I have one copy of the allele that slows progression to full-blown AIDs. People with two copies of this allele are actually almost immune to the virus, which is pretty interesting (see last month's issue of Scientific American for more on that).

-It got my basic traits right, as far as coloration, being taller than average, hair type, etc etc.

-I smell asparagus in my pee after I eat it, but I knew that without the genetic test. :/

-All in all, though, there weren't any huge revelations.  I'm at lower than average risk of Alzheimers, breast cancer, diabetes, etc, so that was good. The only disease I'm a carrier for is hemochromatosis, an iron absorption deficiency disorder.  Increased risk of Parkinson's, but it only bumps my risk from a 1% chance of getting it to 2%, so I'm not too concerned. The only other risk factor that made me look twice was an elevated risk of thromboembolism while on birth control, but my other genetic/lifestyle risk factors for blood clots are very low, so I'm not losing sleep over that one either.

That is actually just a small sample of all the results I had, but a lot of them are more obscure/less interesting or phenotypically obvious traits/risks.  One warning: if you are prone to hypochondria, this test may very well be more harmful than helpful, so keep that in mind.  I'm not, but I can picture someone like my brother being a basketcase over some of the elevated risk factors, like the Parkinson's one I mentioned above.

Lastly, if you are a science nerd like me, one of the coolest features is that if you're interested in learning more about a specific gene or the study that they cite as the source for associating an allele with a condition, it links you straight to the study on PubMed so you can look at the primary literature and form your own opinion about the study, if you so desire. For example, here is the study they link to for the IQ-breastfeeding trait.  Pretty awesome. They also update your profile when new studies are published about any of your biomarkers.

Alright, if anyone actually read that long thing, thanks for your time.  Has anyone else had this done, or one from another company? Any other interesting anecdotes about it?

8 comments:

brie said...

wow, i had no idea they even did stuff like this - very cool. i think i'll have to check it out. :)

and thanks for your comment on my last post. :)

Kaylee said...

I'm not a hypochondriac but I AM highly anxious and tend to assume the worst, so I could see how that test could cause some serious stress for me!

The info you got about substance abuse/addiction risk is fascinating. It's also cool to see how powerful the mind can be, as you have (mostly, am I right?) kicked the insane coffee habit, and have obviously avoided potential drug/alcohol dependencies. So the test results definitely aren't a life sentence, and I guess they could also be used as a tool for someone to inform him/herself about what behaviors to be cautious about.

Alie said...

I didn't realize this type of service existed! The analysis you got was very interesting, especially about the addiction stuff. Seems like that's something you recognized in yourself and have been careful to not trigger, and the genes definitely confirmed that. Also interesting that it was pretty accurate for your coloring, etc. I've always wondered about what a genetic analysis would say about not just my inner-DNA workings, but also some of the more phenotypic traits (aside from eye color, which was pretty obvious how I inherited). Great find, and thanks for sharing!

Jess said...

I won't lie - I clicked on the link after you mentioned it in the last post and was SUPER tempted to allocate some of my tax return toward it. In fact, I still am. :)

Katie said...

That's so interesting! And tempting. Although as a world class hypochondriac and a broke, currently unemployed student, I really shouldn't right now :P

I would love if this sort of testing could be used as standard specifically for deciding what sort of medication to use for mental illnesses. I've had consistently dreadful - even dangerous - reactions to SSRI and SNRI medications, and I've read before that there are ways of testing how likely one is to react well/poorly to them being developed. One day maybe it'll be cheap and accurate enough to be used in that way.

I sent you a follow request on twitter! I am no_ghost. No idea why I hadn't before, except that twitter moves too fast for me to keep up sometimes.

Jen Ebbeler said...

I did 23andme last year and loved it. I'm a dork and loved seeing genetic proof of all these funny traits--I think it's a great thing to do when you are old enough to not get freaked out by any of the results. I did it because I was diagnosed with a kind of inflammatory arthritis called Ankylosing Spondylitis. It has a genetic component and I was curious to see what else was lurking in my genes. Fortunately, nothing else too awful. But it was really interesting to see stuff about personality traits and such--a lot of it is absolutely true!

Maeve said...

I think that the results might cause me stress as I'm such a worrier, but at the same time I think that seeing these sorts of results could be interesting. I might have to check this out.

Tiptoe said...

Interesting on your results. I'm actually thinking I'd really like to do this with part of my tax refund.

Your first few paragraphs reminded me of the Dog DNA since there are only so many breeds that are in the database, and how most of the time, you have to take those results with a grain of salt. This one some more accurate, however.