September 16, 2013

23andMe Genetic Testing: What's the Deal?

Curious about what the future might hold for your health?

After reading a great post on DNA testing by Charlotte at The Great Fitness Experiment, I became curious about 23andMe, a direct-to-consumer genetic testing outfit that's been getting quite a bit of buzz.

As a former hypochondriac, and as someone with a family medical history that doesn't inspire much optimism for a long and healthy life, I knew this was a bit of a psychological gamble. Did I really want to know how screwed I might be genetically? Mightn't I be better off thinking happy thoughts, trying to be reasonably conscientious about diet and exercise, and hoping for the best?

After about half a second of deliberation, I decided to go for it. I've always thought if I'm going to be a bit obsessive about health risks, I might as well be strategically obsessive. Why waste time worrying about some hideous disease that someone else is going to croak from, rather than spending quality panic time with my own future health horrors? I'd been aware of this service before but it used to be more expensive.

But after the price recently dropped, and inspired by Charlotte's Great Genomics Experiment, I decided to pony up $99 bucks and a big slobbery vial full of spit. I paid my own way and did not go to the company begging for a freebie, so this review of 23andMe is entirely unsponsored. Though it does mean, sorry, no giveaway opportunities either.

Are you tempted to know what genetic testing might reveal? Here's what I thought of the experience and some of the stuff I found out.

What is 23andMe?

It's a DNA analysis service that offers "a comprehensive genetic scan of a subset of the SNPs (single nucleotide polymorphisms) in your genome which correspond to the SNP data being studied by the research community."

Your spit is analyzed by their fancypants CLIA-certified laboratory, and the results generally are supposed to come in 4-6 weeks. I think mine took slightly longer but it may just be that I'm impatient. Over at their site there is more technical info on how 23andMe works. For $99 bucks you just get genotyping, not sequencing. But who knows, that too looks possible in the future once the costs come down.

There's also an interesting backstory, as 23andMe was started by Anne Wojcicki, wife of Google founder Sergey Brin. And I apologize for not taking the time to explain it all--because what if you curious and really wanted to know the whole interesting tale? Damn! If only there were some way to enter a query into the internet and see what's already been written!

The Good

On the plus side, there is tons of fascinating data, and the potential for even more in the future!

Besides looking for genetic markers associated with creepy diseases, 23andMe gives you other reports too. You get information on your possible ancestry, traits, and medication interactions.

It is probably good for me to know that I am more likely than most folks to have a heart attack, especially since the onset of cardiac arrest in women is often harder to detect than it is in men. But I'm at lower risk of Alzheimer's, yay! There are a number of things I never even thought to worry about that I might want to keep in mind if I ever see any early signs and symptoms. And if some new study mentions any of my personal high-ranking health threats, and says something like eating vast quantities of rutabagas will help me avoid them? Better stock up on rutabagas 'cause I will be all over that and likely cause a national shortage.

Anyway, I will spare you the entire list of my red flags. But basically, if I'm in the mood to freak out, I have a couple of dozen excellent excuses in the form of nasty diseases that could be lurking around the next corner. On the other hand, if I want to feel all relieved, the list of equally dire diseases that I am at lower than normal risk for is just as long. And the conditions for which I am at "typical risk" is the longest of all.

In other words: if your results are like most people's, it will be a mix of good and bad news. So it's as much a personality test as a genetic test: which sorts of results do you focus on? And are there additional steps are you willing to take to reduce your risk or are you just going to stew and fret?

Note: it is probably a good idea to go into this thing with the recognition that you are likely going to die of something, at least eventually--unless the clever scientists get really busy, really fast.

A particularly helpful piece of data is your possible medication responses: good to know if you are likely to react catastrophically to a drug or, alternatively, need wheelbarrows full for it to have any sort of normal effect.

Also, if you are thinking of breeding, you may be worried about what conditions you could pass along to your offspring. They have a bunch of markers for inherited conditions, including some you've heard of (Cystic Fibrosis, Tay-Sachs) and some that are not as commonly known. (Familial Mediterranean Fever? I am not familial with that.)

Plus the site hooks you up with all kinds of resources and a huge community of folks who can be quite passionate and geeky about all the implications of their various chromosomal quirks. (Though I don't mean to make light of the serious nature of some of the conditions--I think it's totally great there's a place for all those who receive sobering news to get help and support).

In my mind, one of the best things about it is the fact that as new discoveries happen, you can find out where you stand since your data is already on file. They seem to update frequently, and with new reports there is always a link to your own genotype so you can see whether to be elated or depressed or just totally confused.

Plus, you can also pitch in and contribute to future medical advances! There are voluntary questionnaires of all sorts, including a weirdly addictive single-question box that requires you only answer one quick question at a time. As hundreds of thousands of folks (and eventually, probably millions) whose DNA is known offer information about their traits and conditions, lots of new connections can be made.

And the ancestry stuff is cool too, though if you are female and have no close male relatives it's more limited because of that XX vs XY thing. I am 98.6% European, .9% East Asian/Native American, and have more Neanderthal DNA than 92% of the rest of the population. Um, yay?

This may explain my inability to operate my droid without major mishaps.

If you opt to allow it, you can share your data and family tree with people the site finds who are related to you in some way. I've been contacted by a few folks, and at least one looks like it could lead to some new family history info--not that I want to get sucked into that wormhole again any time soon having finally wrestled my life back from the evil insidious

The Bad: 

It's great that more discoveries are coming, because right now, at least from my results, I am not overwhelmed by the predictive accuracy of the information.

Well, ok, some of it is spot on. My inability to jump more than two inches or ever beat anyone in a footrace who is not on crutches may have something to do with my relative lack of fast twitch muscle fibers. And yep, I have dark straight hair, little resistance to norovirus, and always barf after anesthesia. They got all that stuff right!

But I also have a number of traits, and have experienced many conditions, that are not particularly likely, given my results. So how relieved am I that I don't have the Alzheimer's marker they tested me for? Well, kinda! But since I have plenty of other conditions that I don't have any known markers for, there's only so much comfort I'm going to take from that.

Plus, as we all know, your genes are only part of the story. Your lifestyle, experiences, and environment play a huge role in your physical and mental health.

It's clear that for most things one wonders about many, many genes and other factors are involved, and they only know a few of them so far.

So after the initial drama of reading the report, (OMG no! OMG yay! Hmm, really? Uh oh! Whew! WTF? Ack! Yipee!), followed by massive googling and digging and sorting and clicking on links, I eventually settled down with a few useful bits of information, forget most of the rest, and wandered away again.

For me, ultimately, there was not all that much "there" there.

Good point, Gertrude. Personal genomics is kinda like Oakland.

Or like the old song says: "I know a little bit, about a lot of things, but I don't know enough about you."

But to be clear, this is not the fault of 23andMe! They are only going by what the research community has discovered so far. It seems pretty clear we are only at the beginning of a huge period of discovery, and it's kinda fun to be in on it.

The Impact of Environment and Epigenetics

The 23andMe folks are pretty brainy, so they are all over the research on lifestyle and environment. Not only can these factors compensate for crappy genes, they can also impact how the genes themselves get expressed.  For example, on the 23andMe blog they share studies on how exercise can modify the dna in fat cells, as well as how exercise can induce epigenetic changes in muscle cells.

Or, one of my fave diet studies looked at consumption of raw produce and heart attack risk, specifically for people who are "GG at rs10757278." (Me!) We have about 1.5 higher odds of having a heart attack, lucky us. But, turns out, a study found that people who were GG and only occasionally ate raw vegetables and fruit had twice the heart attack risk compared to folks who were AA and ate a similar diet. But those who were GG and frequently ate raw vegetables and fruit did not experience heart attacks any more than controls.

Awesomeness! So I shall continue to eat salads the size of small automobiles and rationalize my astronomical grocery bills in the name of my health. Gotta keep those naughty GG's as quiet as possible! (And my apologies to any Gigi's out there, who may not be at all naughty, if you are suddenly feeling self-conscious).

The Future

Personally, I am very encouraged about the growth of sites like 23andMe and the increasing knowledge of genetics and inherited predispositions generally.

In my mind this offers hope for better health care, disease prevention, and wellness, as well as a welcome explanation for the overall fucked-upness of medical research that is always contradicting itself.

It drives me crazy that some medicines, nutrients, exercises, activities, interventions etc are shown to be quite effective in some big study, yay! And then you run out and buy a bunch of stuff and get all hopeful and then some other study comes out later that says the exact opposite. Just like some foods and lifestyle habits are discovered to be horribly dangerous, and you say a tearful goodbye and then after a few years of deprivation and suffering the scientists come back and say, "whoops, sorry, turns out that was good for you, not bad for you!"

So what if some of this noise and confusion comes because sometimes we are going to respond differently to the exact same interventions given our differing DNA? And the studies are tossing everyone together and the responders and non-responders are all canceling each other out in different ratios, hiding very real effects for some people?

And if eventually the scientists find out who responds best to what, who knows? Perhaps we can all become strong lean vibrant pain-free clever super-achievers with 20/20 vision and shiny hair and regular bowel movements, hooray!

So how about you guys, does cheap personal genetic testing get you all excited, or creep you the hell out?

Fortune Teller photo: scottod; Smilies: wikipedia commons


  1. Im so torn about this for ME and the HUSBAND.
    the child?
    Im in in in in for reasons you get get get.

  2. This is such an interesting post, Crabby!!

    No question we would like to know the future, sometimes more than others, lol!

    I imagine, no matter what our genetic map, certain basic lifestyle behaviors are always important to a long and healthy life.

    Hoping that you have that in spades!!

    1. Aside from the occasional Evil Hot Fudge Sundae Totally Absolved by Ritual Vinegar Consumption, most of my lifestyle behaviors are pretty sound Dr. J. Though nowhere near as virtuous as yours!

  3. It's intriguing, but I'd rather not know for a variety of reasons including, but not restricted to, I'd be waiting for some disease hammer to fall while knowing I'm stubborn enough to punt anything I'm geared to get for something I'm not the least at risk for. Surprises 'n' all.

  4. Your a brave woman!! Personally I would have kept that Neanderthal thing to myself.
    I have thought about having this done for myself. It would certainly send Grandpa into a spin if it turned up with any Asian or African ancestry when he assures us we are 100% pure Scot with no messing around on his side of the family.

    1. Wait, Cindy, Neaderthal ancestory isn't something to be all proud of? Arrg. That make Crabby grumpy. Crabby go kill something with Big Club now.

      And too funny about your Grandpa, that'd be reason enough to spring for it!

  5. On one hand, I think that simple knowledge of what your recent ancestors died of and at what age is as much useful information as you can get out of this stuff, healthwise, exactly for the reasons you talk about at the end. Genes are only part of the picture, and we only have limited knowledge about what actions you can take other than generally getting some exercise and eating lots of veg.

    On the other hand, science is way cool! What fun to be a part of this big genetic thing that we're just starting to learn about! Cause you're not just learning, you're contributing to everyone's knowledge. Awesome!

    That said, if I had $99 to spend on genetic testing, I'd get my dog done. The vet claims he's a Corgi because he looks like one, but I say Jack Russell/Glocester Auld Spot cross, and the looks are just a coincidence.

    1. Love it, Trabb's Boy! Actually, our local shelter had a fundraising contest to guess a dog's breed and sent the DNA off for results, I guess Dog genomic analysis is a whole new trend. Can one find out in advance which pooches are going to bark their heads off and pee all over your carpets?

  6. I think that I'm one of those people who is perfectly happy to just go along without knowing much about my genetics. A lot of it is probably a laziness thing on my part but I really don't even have much curiosity about that kind of stuff.
    And, I think that if I paid for it I would be disappointed if the results weren't super thorough.

    1. You must be missing the Worrywart/Overthinker gene Kim!

      Though you won't know for sure unless you fork over $99... :)

  7. Boy this is an old blog...
    Anyway, as I was saying GATTACA here we come!
    Also, if it makes you feel any better, it's estimated that any living Asian and European is at least 2.5% Neanderthal DNA.

  8. Thanks tiffdog, glad to know I'm not the only one with ancestors who got pretty friendly with the 'thals back in the day.

    And might explain the large amount of body hair I have in places other than my scalp...

  9. Ok - in defense of Neaderthals, they really had a more complex and softer side! They were the first of the cave dwellers to institute some sort of ritual around acknowledging death of their own. AND they were also first to actually care for their elderly in a more benevolent fashion than required by necessity. i.e. - they were kinder than the average stone ager. So, hey :)... One could have worse ancestory, right?

    I sort of view the genetics stuff two ways: 1- it may end up revolutionalizing modern medicine (there's already a term - 'precision medicine' being tossed around) and, 2 - maybe not. Then there's just luck (or lack thereof) or shall we say "unknown variables"?

    I'm a worrier / ostrich type. Because I have a proclitivty toward angst, I sometimes deliberately bury my head. Some call this denial - I call it an effective personal strategy! :)

    When it comes to anything medical about myself, I can be really schizophrenic. As another recovering hypchondriac, apparently I have screwed up my filter for knowing when it's actually important to research or pay attention v. not so much. So I vascillate. How helpful is that?!

    Anyhow the genetic testing stuff for ME (and me only) is sort of like anything else that has some murky implied claim to predict the future, isn't it? Is it just helpful info I can work with? Do I believe it? Trust it? I could likely find things that point to supporting the claims and/or refuting them; I could act on the findings or decide action won't alter outcome; I could say I don't want to know or shouldn't even try to know everything, etc... or I can go where our curiosity takes me and keep my fingers crossed. So - I'm going to be my usual self and vascillate on all this! Hope they come up with a cure for THAT:).....

    1. You must have the same vacillation gene I have! Not that 23andMe picked that one up yet. And I think many of us are worrier/ostrich types, we just vary on what we land on to ignore or embrace.

  10. My DNA test kit has been sitting on the kitchen counter since the end of spring. I think I have one of those passed-down diseases that requires medication that dries out my mouth so I can't spit into the tube they sent me. Just the other day I got some spit-producing toothpaste (has some sort of cancer-causing enzyme in it) so now in a few weeks I'll try spitting again and probably find out thru DNA that dry mouth runs in all generations before me and one of the things my ancestors did to prevent their own dry mouthes was to become alcoholics and pass down the genetic predisposition for addiction.

    1. You crack me up Janell. Too bad I can't spit for you, I am QUEEN of salivation, just as my dentist who practically has to wear a trenchcoat and use a shopvac to even look in my mouth.

  11. In itself, it excites me. Someday, they will know ahead of time which antidepressants will work for you, and which won't, saving people months or years of trying things that aren't working. They will know if you will likely be allergic to a particular antibiotic before they give it to you and you have an anaphylactic reaction. You will be able to work to prevent the diseases you are most likely, genetically, to get. And you will know which diet/exercise program works best for you without years of trial and error to figure it out.

    What creeps me out is what insurance companies, employers, and the government are someday going to want to do with this information. That's a scary can of worms.

    1. Theoretically all this stuff is private messymimi, but... who really knows?

  12. I would worry about what they were doing with my DNA. I am pretty sure I saw you downtown today. Coincidence...who knows?

    1. ooh, do I have a clone? That would be cool! Keep me posted kimberley!

  13. There is a ton of travel in my life right now, and at a recent airport stop I picked up a book called "Drop Dead Healthy" by AJ Jacobs. It was lots of fun to read - the author spends a couple of years seeking the perfect keyto health one body part at a time. At one point he goes to 23andme, too. I thought it sounded interesting; now I have to go do it.

    There is a lot of breast cancer in my family so my mother (had it two apparently unrelated times) was tested for BRCA 1 & 2. The test was negative, which totally surprised the testers. When we went in for the results - we had to go in, no phone answers allowed there - one of the women asked gently how the answer made us feel.

    Feel? We walked in not knowing the cause, walked put not knowing the cause. No loss, no gain as far as I was concerned. I guess we're not a very touchy-feely family. I think the answers will just be one more tile in a large, far from finished mosaic.

    1. Love the tile in the mosaic analogy DRG, and that book sounds totally like something I'd love to read! (Or to have written, but that's a whole 'nother issue... )

  14. In theory, I like it. I'm going to worry anyway, and there are so many things to worry about, if I could narrow it down to which things I need to worry about, that seems good. And a lot of it sounds interesting. But, I admit to a bit of hesitation which I can't seem to put into words at the moment. Or maybe it's just my usual indecisiveness. :)

  15. I love knowing things. Maybe when I feel I have $99 to spare, I'd do this. But since I scribble all over health history forms with the diseases and causes of death for great-great-grandparents, and it seems highly likely (unless antibiotic resistant bacteria really take off) that I'll die of some circulatory problem or other, probably in my 80s, I really need to spend money on new scrubs for work before the worn crotch seams give out completely. (I just did the laundry.)

    Mary Anne in Kentucky, smug about her ancestors

  16. Like many, I am torn.. I have certain diseases in the grandparents & parents.. I am not sure how much I do or do not want to know & without health insurance right now - NOT - but still torn.. not sure if it would depress me or not if I got bad news... we can say that it would make us want to live more but still not sure if I would just worry too much...

  17. I can't do it. I know myself, and I'll just end up obsessing and worrying over everything.
    But it does sound cool! Y'know, for people who are less obsessive/compulsive than I am.

  18. This was a super-fascinating read. I think I'd go ahead and have the tests done, out of morbid curiosity. And, like you said, to rationalize astronomically high grocery bills because, hey, i'M WORTH THE PRICE OF THIS ALMOND BUTTER AND ORGANIC KALE, OKAY?

    Just sayin'.

  19. Wow, this is really interesting. Never heard about about this kind of testing that's so easily available. Now I'm more curious about my genes than ever especially when I've always left family medical history blank.

  20. I'm one of those overly curious people and I am definitely going to have my genetics tested. Especially since I have no clue about my family history. I never even knew my grand parents.

  21. Hi! new follower!

    I think I am like many; intrigued, but not sure I 'want to go there.' LOL Thanks for sharing!

  22. That is so cool! I want to try it!

    And this: "I've always thought if I'm going to be a bit obsessive about health risks, I might as well be strategically obsessive." Totally with you on that one ;)

  23. Hey thanks guys & gals for all the great comments, and sorry not to reply individually but I LOVE hearing your input. Still grappling with how to do better time management blogwise, and experimenting with varying forms of slackitude, one of which is wandering away from comment reply during busy weeks. As well as not posting all that often. But at some point, will be directing more energy towards the blog again and in the meantime I so, so appreciate the great comments and always read every one.

  24. Yay you got your results!!! I'm glad you learned some interesting stuff but I'm sorry it wasn't more what you were hoping it would be... That's cool that you were so interested in the community aspect of it. No one has contacted me at all and I have to say I haven't tried to contact anyone either. Maybe I don't have unique enough genes??


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