Genetics in action!
Given the choice, would you rather lose your mind or control of your body? When we were kids we used to play the macabre (and very un-pc) game of Alzheimer’s vs. Parkinson’s in which we dared each other to imagine a life missing either brain or body. We thought it was a riot but as I recall the grown-ups in our lives most certainly did not. Indeed, I have several close family members who died with one of the two dreaded diseases and so you’d think I’d have grown up to be a little less cavalier. Apparently not.
As a Valentine’s Day gift to myself – nothing says romance like buying yourself prezzies! – I got me a genetic workup done courtesy of a sale at 23andMe * (23 chromosomes? Get it? SCIENCE RHYMES!!) Perhaps because the test itself was so easy – they sent me a test tube, I spit in it and sent it back to them – I didn’t really take much time to think about what exactly I was doing. All I knew was that they analyzed my DNA and looked for hundreds of markers for everything from disease susceptibility to personality traits to drug sensitivities which given my fascination with research, numbers and navel gazing was basically the best gift I could have gotten. What could possibly go wrong with that?
So when I finally got my results back a few days ago, I ripped open that e-mail (it was a very aggressive mouse click) and started scanning my results.
Great news, you guys: I have ZERO risk for prostate cancer! Isn’t science great?!
But lest you think I paid all that money** to confirm something that a hand mirror and a moment of bathroom gymnastics could have cleared up, I also learned some other very interesting and valuable things about myself. (23andme has several ways of delivering the information to you. You can read a summary report which just highlights the really important things you need to know from a health standpoint, or you can read an intermediate report that lists everything they tested for along with the probability of having/getting it and a star ranking system to show you how confident they are in the results based on existing research. Or you can read in depth about every genetic marker, what it does, every study done on that topic and how you personally fit into that study’s demographic. Of course you know which one I chose! It’s taken me days but I have Read! It! All!)
Some results were just entertaining – turns out I carry both genes for the “photic sneeze reflex” which explains why I always sneeze a lot when I first walk into bright sunlight. (You should hear my whole family after we walk out of a movie theater, it’s like a sprinkler system going off.) Others were important to know – I apparently am likely to have a fatal reaction to a certain antibiotic (only used outside of the US, thankfully). Yet others were mystifying – turns out I have the genes to allow me to digest lactose all my life long and yet as we all well know, I am violently lactose intolerant. (23andme explained that there may be genetic interactions not yet identified or biologic reasons like the wrong gut flora.) Still others just confirmed what I already had figured out about my body from all these years of living in it – I lack the gene for spacial acuity explaining why I get lost like it’s my job. (I literally smacked my husband awake yelling at him “See?! It’s not my fault!!!”) And of course I was anxiously awaiting the results of the BRCA tests for breast and ovarian cancer – negative for both! Yayayayay! (Also in regards to my boobies: I have the gene for small ones. When I excitedly pointed that out to my husband he was like, “Duh, Charlotte.” Genes, I has them, lolz.)
But then there were the ones I hadn’t even considered at all when I took the test.
As I scrolled through the hundreds of results and pages of information, I came across two “locked” results. At first I thought they were trying to trick me into shelling out more cash but when I clicked on the results for the Parkinson’s and Alzheimer’s test information, I got a warning window telling me, essentially, that there are no known cures for these life-ravaging illnesses and that knowing my genetic predilection for them could have lifelong consequences for not only me but for my genetic relatives (i.e. my beloved kids, who also sneeze in sunlight). It went on to caution me that it was recommended that I talk to a genetic counselor about my familial risk factors and come up with a game plan before deciding whether or not I wanted to know. The site also pointed out that only a certain percentage of these diseases can be attributed to genetics and so simply having or not having the genetic markers does not mean you will or will not get them.
It was a very long, ominous warning and required me to initial it before allowing me to proceed to my results. At which point I fess up: I didn’t consider the ramifications of the test for more than 0.2 seconds before clicking through. I wanted to know! Now! Whether it’s the hubris of youth or just that I’m impulsive, I had already assumed that I would not be genetically predisposed to them.
And it turns out I was right. I don’t have any of the markers for either Alzheimer’s or Parkinson’s. Of course this doesn’t mean that I am immune to them (like I am to norovirus, aka the stomach flu, talk about a genetic score!!) but it just means that my risk is “average.” It was only after I exhaled and mentally thanked my parents for this small mercy (especially considering they gave me the genes that predispose me to depression, anxiety and schizophrenia… but not bi-polar. Wha?) that I realized how awful it would have been had my guess been wrong. If they had been positive at the very least it would have required some serious soul searching and advance planning. And knowing me, it would have changed the way I lived the rest of my life. There would be a kernel of fear at the heart of everything I did. (Or, hey, who knows – maybe it would have taught me to “live like I’m dying” or whatever those country songs say.) As it stands now, I just feel very, very grateful.
The other results that I hadn’t anticipated but have since spent a lot of time thinking about were all the ones about food habits and obesity and weight gain. Scientists estimate that our genetics determine 60-80% of our weight, depending on which gene variants are present and in what combination. For example, a UCLA study from earlier this year showed that people without a certain gene can eat a high-fat diet and not gain weight whereas those with the gene gain weight like crazy on the same diet. (Same exact caloric intake, waaay different results - take that calories in/calories out model !) The 23andme test said that I lack the gene to lose weight from a high-fat diet and that people with my genetic makeup also showed no heart benefit from eating a diet of 40% or more fat. Which might partially explain why The Primal Blueprint/Paleo diets never worked for me. I actually gained 10 pounds every time I tried them. Of course these days I do eat a lot of fat, at least a lot more than I used to. But when I eat intuitively I seem to stay around or below 30% fat. So maybe my body does know best?
Another interesting result was that while I don’t have any of the genes that predispose me to being obese, I do happen to have a lovely little gene that makes me prone to overeating (or “eating with disinhibition” as they put it). Interesting. I also don’t have the “skinny genes” either. So I guess that makes me average? But it made me wonder how I would have felt had I had the genes. There were probably about 10 different markers that had to do with weight and dietary preference (I’m one of the lucky ones who lacks the gene for “bitter taste perception” which is why I adore the taste of cilantro, asparagus and cruciferous veggies!) and I’m honestly not sure what to make of them. Actually my main struggle with the whole test has been to not make too much of them. (Case in point: Apparently I have an inherited genetic disorder called DPD deficiency. Which can be scary and life threatening… only if I take a certain chemo drug. Hmpf. To worry or not to worry?!)
Which leads me to my next point: All of this discussion would be remiss without acknowledging the emerging field of Epigenetics – a science that looks at what causes certain genes to be expressed while others to be inhibited. For example, one study showed that a particular “obesity gene” was “turned off” by regular exercise. So even if you do have the genetic predisposition apparently environment still plays a role in whether or not that gene is activated. See? Fascinating!
In the end, getting my DNA profile ended up being good for more than just entertainment. There were a few things that have made me decide to make a few changes. (Apparently I’ve got 4 times the risk for heart disease as “normal” people do so that makes me even more invested in doing things that are healthy for my heart like exercising only in moderation!) But I keep reminding myself that it isn’t a crystal ball and that a genetic predisposition is a far cry from a certainty. Still, I’m glad I did it. I’m even glad I opened the “locked” tests.
But now I’m SUPER curious – what would you do? If someone was holding your DNA results in their hand, are you like me and would want to know whether you had the genetic marker for a deadly disease like Parkinson’s or Alzheimer’s, consequences be darned? Or would you prefer to just not know and live your life the best you can without that potential shadow? If you did come up positive, would you tell your kids? Any of you know already that you have an interesting genetic marker? Any other light-triggered sneezers out there?!
*I did NOT receive this test for free nor was I compensated by 23andme in any way. I have no relationship with this company at all. I paid for it myself and was so delighted by the results that I simply had to share it with you!
** The DNA test was $99 discounted from $250 when I got it and I just checked their site and as of today (6/9/2013) it’s still $99 if you’re interested! And no, I don’t get any kickbacks or commissions if you do decide to buy.
P.S. Don’t forget to enter my FitnessGlo giveaway ! They provide the fitness but the glo is yours to keep;)