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;)
I don’t want to know. My grandmother died with Alzheimers and, having seen the ravages of the disease first-hand, I don’t want to know I’m predisposed to that future. I’m a wuss.
Yes, my grandmother died with Alzheimer’s too. It was heart-breaking. I feel your ambivalence.
I would like to know because then I’d be prepared for it. I can finish off my bucket list and make my will (etc) and make the necessary medical preparations. I really wouldn’t like for it to be a total surprise.
Aww man, that’s so cool! I’m probably going to do it. Forbes.com had an interesting article on it:
“Turns out there’s a big upside: Citizen science. SNP tests are not yet viable because we need more info. 23andme talks about the “power of one million people,” meaning, if one million take these tests then the resulting genetic database could lead to big research breakthroughs and these could lead to all sorts of health/performance improvements.
This is what 23andme is really selling for $99 bucks a pop—a crowdsourced shot at unraveling a few more DNA mysteries.” (http://www.forbes.com/sites/stevenkotler/2012/12/13/what-is-23andme-really-selling-the-moral-quandary-at-the-center-of-the-personalized-genomics-revolution/)
Sounds like a win-win. I want my husband to do it too…but I doubt I’ll bring myself to pay for his, and I know he won’t! Did your husband do it?
Nope, my husband had ZERO interest in it. He kept asking me as I read through my results “Why are you so into this, again?!” LOL. I don’t regret it a bit but different people definitely have different feelings about this. Let me know if you end up doing it! And thanks for the Forbes link – off to read it now!
My husband, three children and I had our 23andme analysis done this spring. We have all been fascinated with our results. The information about drug sensitivities and potential toxic responses to drugs was interesting. And the heritage section was fun. Luckily, we had no issues with Alzheimers or Parkinsons, so no devastating results. Personally, I was thrilled to find out that I had a very low risk of macular degeneration.
We had discussed whether we wanted to know about some of these life-changing diseases and decided that we would want to know if we should plan to do things now rather than later. But each person has to decide for themselves. And we liked the idea that we were adding to the data base by allowing them to use our data.
I love that you did this as a fam! And I agree that I also like the “crowd sourcing” aspect as well. I’ll happily donate my DNA to science!
Oooh, you have me tempted! I had no idea they had all that info.
Would I like to know if I have genes that put me at higher risk for certain diseases? Well, yeah. Rather than generalized worry about ALL the possible stuff that could go wrong, I’d rather target my worry at the specific things I’m actually at high risk for. Then there’s at least some chance of making helpful behavior changes if necessary.
For some reason I thought the accuracy of these things was in question… but that may have been a few years ago.
Thanks for the tip, gonna go investigate!
The accuracy certainly isn’t 100% -and they don’t claim it is. Like I wrote, they give you a “confidence score” for each result to let you know how much research it’s based on and how confident you can be in the result. Some tests are backed by a ton of research while others are based off of only 1 small study. They let you know which is which and you can even click on the studies to read them. Also, the more people who take the tests and enter their survey info, the more reliable the results will be for all of us. They keep updating their database and so you can keep checking back (theoretically as long as the company doesn’t go out of business) to see your updated results. Their goal is to get to 1 million tested at which point they say they can begin to make some pretty accurate recommendations. Personally I love the idea of donating my DNA to science;) If you do it, let me know!~
Thanks Charlotte, and yep, I went over and signed up! Thanks so much for doing the research. Love the idea that you can check back as it gets more and more useful at predicting risks.
Fascinating! I think it would be a really great thing to do. I don’t know my biological history (I’m adopted) so this would be incredibly interesting, probably also quite useful, to me.
Glad there were no big surprises or bad news in there for you!
Thanks! I think it would be really interesting, especially if you are adopted. If you decide to do it, let me know!
Ive thought about this so so so much since you mentioned you were doing it.
I think Id say a soft terrified YES…
but Im not sure.
Yeah, it’s been way more interesting than I originally thought it would be (although clearly I did not put enough thought into it!). I’m not sorry at all I did it. Let me know if you end up doing it – I’d be super interested in your results too!
This is super interesting. I think I would want to know. I’m a planner so if I’m going to have a disease I’d like to know so I could try to prepare for it.
Very interesting. I am checking out the 23andMe site now. Did you know that they do have a referral program? You may want to check it out. It’s a way to make a few extra bucks!
LOL, no I didn’t know that. Ah well, too late now!
I would definitely look. I was the kid who peaked at all my presents (and bribed my brother to tell me what they were). Life destroying illness not really the same thing but I’ve never been one for surprises. I think I’d be a little afraid though. My grandmother died of Alzheimer’s.
Yeah, my grandma didn’t die OF Alzheimer’s (she died of an anyeurism) but she certainly had it when she died and it made the quality of her later years much less – so I understand your ambivalence!
I thought I’d want to know but after reading your thoughts I am not so sure lol. Knowing I had markers for an incurable disease would probably change me and I wouldn’t want to potentially mar my outlook on life. However, I would like to know the other information!
You can choose what info you want to know but I def understand your ambivalence!
Thanks for sharing this story.
I actually already assume I’m predisposed to Alzheimer’s, so I’d be fine looking at the results… especially since it just says we’re disposed to certain diseases, rather than currently diagnosed with them. If anything, it would probably just make me more likely to have more checkups at the doctor, which I do all too rarely these days.
Yeah one person wrote that knowing they had the genes was kind of freeing because they felt like it was out of their hands now… Interesting perspective. And hey anything that inspires making healthier choices can’t be all bad?
It’s so tricky. As someone who has spent an inordinate amount of time being incredibly anxious of inheriting certain horrible automimmune diseases in my family, this could change my life in either a very positive or negative way. If it showed I was just of average risk, I could spare myself hours upon hours of stress and the accompanying health problems that come with terrible anxiety. But if it shows increased risk, it opens up a whole other can of worms. Ultimately, I’ll stay away from this web site. I’d rather focus on the positives and try to use my CBT techniques to remind myself that we are not our genetics and I have a healthy body at this moment that I should be enjoying and appreciating.
Yes, I think the prime directive in this case is to first know yourself (which it sounds like you do, quite well)! Different people react different ways to this info and it’s so important to understand your own feelings first. Love you:)))
That is fascinating. I’d definitely want to know if it was me. I could make the changes I need to in my life to adjust, but honestly I don’t know if I’d like life any differently. I’m not naturally anxious by nature, so I think I could deal with the results. My dad lost his dad and 2 brothers to the same cancer and he did not know if they were all predisposed and couldn’t test for it at the time. He and his remaining brother seem to be healthy. How did he react and live? Well dad took the positive approach and retired early and spent time with family and doing what he wanted in life just in case he did get sick and it turns out he is lucky. In the end he enjoyed his life more. There was no dread…more of a positive focus on enjoying whatever time we are gifted. I agree with his attitude completely.
I do not like secrets. I do not like surprises. I get super anxious around Christmas and my birthday because I want to know what the presents are so badly that I badger my husband to the point that he wants to return them all.
So basically after reading the first paragraph of this post I already wanted to get mine done. And by the end I was obsessed. I don’t know if I can convince my husband that $99 is a great idea, but I totally want to do it.
I am fascinated by the 23andme reports. But what hapologroup were you?! That’s the part I found most interesting. And the fact that my Jewish ancestry is expressed in my genes.
It turns out I am also a cystic fibrosis carrier, which was good to know. We got my husband tested, too.
I did look at the BCRA gene (neg) but I didn’t look at the Alzheimer’s. My grandmother had dementia, so there’s no sense in worrying about it for myself.
The science nerd in me loves this, but you cannot unknow something once it’s been revealed. I already know that certain diseases exist in my family (type 2 diabetes, bowel cancer, heart disease, Alzheimer’s), but that the likelihood of getting some of these can be mitigated by lifestyle choices. I’m not sure if I want to know if there’s anything else. I think I would be most interested in the haplotypes. There are family “legends” that could be put to rest or authenticated by having this information. The whole thing is fascinating but requires more thought on my part.
Great post! I think I would do it just because I would be curious about how “genetically perfect” my diet is. I like the idea of learning more about myself, but I must admit I don’t know what I’d do if I found out I had genetic markers for horrible diseases.
I guess at least though you could do something then about them or be prepared.
Either way, whether or not you know, you could drop dead from them. Better to know I guess as long as you then don’t live in fear….Although you could live in fear from not knowing…
AH!
Such an interesting topic!! I studied biology in college and took a lot of genetics courses (and am going to med school!), and the main takeaway I got was that the field of applying genetics to human health and behavior is still so germinal. And you’re so right to point out the issue of epigenetics – we humans have such a limited understanding of how genes work together and manifest themselves in complex ways, even though we’ve come so far with scientific research.
Personally, despite all the uncertainties I’ve just mentioned, I would still want to see my results if someone had them in front of me! It’s just the curious part of me, I guess. 🙂 And like your example of knowing about heart disease risk, I think it’s great that I might become more careful/cognizant of some conditions to which I am predisposed. Part of me does wonder if there’s an element of self-fulfilling prophecy for some things, though? If I got my results back and they told me I am prone to overeating, would I, in moments of weakness and temptation, use that as an excuse to allow myself to binge? I’d like to think I wouldn’t, but who knows?!
Anyway, thanks for bringing up this issue. I loved hearing your experience and thoughts!!
Iris @ Anatomy & Intuition
Oof. Tough one. I think I’d want to know…my mom had breast cancer (the pre-menopausal kind) and she’s healthy and has been for a while, but it does make you wonder. That said, I’m not sure I would do much differently knowing about my genetic predispositions than I do now…dunno.
However I am QUITE sure I too lack the gene for spatial acuity and am PLEASED to know there is even such a gene. I just KNEW it.
Interesting… I have bookmarked their website… I always thought it would be very expensive to do a DNA test…
I’m more interested in my origins. I do not know my biological father, I just know he is from North Africa, so I would love to know more about my heritage. It’s a shame the paternal side can only be traced in men though…
As for the disease, I don;t have children yet. And part of me worries I’d find something horrendous I might pass on…
There also is a strong history of mental illness in my family. I would be interested in knowing if I carry the gene…
Hi Charlotte,
Very interesting. How do they track your information and you? I guess I’m concerened about information getting into the wrong places – insurance companies, employers, etc? Do you know how that works?
Both my parents had heart disease and had bypass surgert in their early 60’s. Thats all I needed to know to make the lifestyle changes…I really hope to avoid this!
Wow; I have on idea if I would want to know! When this first was made public years ago a coworker of mine did it as part of a pilot group, and I thought I would rather not know for the reasons you talk about above with the Parkinsons.
How long did it take you to make the decision that you wanted to know? And were you already speculating what you would do if things did not turn out okay?
I would want to know. Since it is believed that things such as heavy metals and nutrition have a role in how the genes are expressed, I think I would be more cautious about what I ingest. I wonder though, since my hubby and I don’t have kids yet, would I want to see the results knowing the possibility of some horrible genetic disease could be passed down to my child? Would those results make me think twice before becoming pregnant? Hm…now you’ve really got me thinking.
It is a hard thing. I don’t want to know if there are no cures for what I might have BUT if I may die younger than expected, it may change my approach to life – hard one!
I did 23andMe a couple of years ago and was ENTRANCED by it. I’m a grad student in biology, so I was really happy with the way they link to primary literature for all of the markers. I’d highly recommend it, but not to anyone with even a shadow of hypochondria, and preferably only to people with a decent grasp on statistics (ie, having a doubled risk of Parkinson’s isn’t quite as scary as it sounds if it means your chance went from 1% to still just 2%). It was really interested to hear your take on this!
I’m waay late to the party for this comment thread; I just moved as well and am far behind on blog posts.
I am a light sneezer as are my kids! I am unsure whether or not I’d do the test or read the results. Although, I already have a shadow over my head (scleroderma..that was a kick in the head!), what’s another one? But I am still unsure..something interesting to think about for sure.
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I didn’t have 23andme run my test, instead I had a pinpoint test run to detect my BRCA1 genes. I had the opportunity to do this immediately after my mother was diagnosed with BRCA1 cancer, but at 24, I was more willing to put my head in the sand and wait until I became ‘old enough’ for it to matter (the youngest age of diagnosis was 42–she died 2 weeks later).
Fast forward 4 years & I was diagnosed with BRCA1 breast cancer while 20 weeks pregnant. A week after my cancer diagnosis, my OB told me my baby was a girl. Talk about a lack-luster announcement. I started chemo while pregnant, stopped to deliver my daughter on thanksgiving day and her daddy’s birthday (also her estimated due date), then had more chemo followed by several surgeries.
From what the genetic counsellors can piece together I am at least the 5th generation of women in my family with the genetic predisposition to breast and ovarian cancer. Only 2 (well 3 if you count my 4 year old daughter) of us have survived. When I asked the doctor to test my son and daughter for the gene, they said that Myriad, the company that does the test, wouldn’t test anyone under 18 unless they were diagnosed with cancer of that type. One of my brothers was tested & was/is positive. My other brother is still in his invincible 20s & hasn’t been tested. One aunt was tested and found to be negative. Another won’t test.
I’d say its a mixed bag to have your whole profile screened for random predispositions. Some of the people who are ‘negative’ will feel comfort, but others will have ‘survivor’s guilt’. Some people who are ‘positive’ will be pro-active (like Angelina Jolie and her BRCA1 test results), while others will live more dangerously thinking they have nothing to lose. Only time will tell if any of those tested succumb to the diseases/predispositions for certain diseases. Like your grandmother, they may in fact be diagnosed with a disease they’re predisposed to, but may die of some thing unrelated. I personally will not have any other genetic tests done. When my children reach the age of test-ability, I’m going to let them make the choice based on the science of their day.