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 ancestry.com.

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

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