UPDATE: (May 19, 2011) for part II of this series, see 'My 23andMe Results - Part II'.I got my 23andMe results about 3 weeks ago. I had been waffling for a while about whether to get this done, but the $299 sale (after Henry Louis Gates plugged it on Oprah) for both the Ancestry and Health Editions got me to sign up. Little did I know that several weeks later it would be on sale for $99 for DNA Day!
I'm reasonably healthy but have a few nagging issues that I thought the test might shed some light on. However, I am well aware that these results generally assess risk of disease and do not directly diagnose it. Still, the general idea is attractive and I like the idea of being able to learn something about myself and share that information with my family. By writing this blog I am clearly veering into the area of sharing some of that information with you, too. But I am still weighing the options about how much I plan to reveal publicly. That's going to be part of the fun in writing this series of blog entries.
If you get the combined Ancestry/Health tests then, obviously, you get two kinds of results. I'll address the ancestry results in a separate post, but it essentially uses Y chromosome information to track paternal ancestry and mitochondrial DNA information to track maternal ancestry. I'll have to admit right now that I don't know much about genealogy and this kind of ancestral genomics, but we can learn together, right?
I reviewed my Health results and found some interesting stuff which really drove home what kind of information you can (or cannot) get from these kinds of genetics tests. For some conditions, 23andMe has what it calls 'Established Research Reports'. These reports give you a risk assessment for how likely you are to get a particular condition in your lifetime, based on your genotype. This can then be compared to the average risk across the general population.
For instance, for Crohn's disease, I have an 85 out of 10,000 chance of getting the disease in my lifetime, compared with an average risk of 53 in 10,000. It then tells me that the heritability of Crohn's disease is 50-60%, which means that about half of contributions to risk comes from genetic factors and half comes from environmental or other factors. Lastly, it shows the individual genetic variations (SNPs, or single nucleotide polymorphisms) that contributed to my risk, as in the image below:
You can see from this that there are 12 SNPs that they include in their Crohn's disease risk calculation. The ones in red are ones for which I have a so-called risk allele, and the ones in green are where I don't. Each of the alleles I have for each of those SNPs contributes to the overall risk for me. They do this based on scientific studies that look at the prevalence of these alleles in populations of people with and without Crohn's disease.
So this example is, in the end, pretty uninteresting. My risk is slightly greater than average, but still small. I know a little about Crohn's disease and if I started having those kinds of symptoms I'd go to my doctor to get looked at. But I'd have done that regardless of whether I'd seen these 23andMe results. I don't think there's anything I can do about this result except shrug and say "that's interesting."
I'll probably show some more of these kinds of results. But in general, most of my results looked like this, in that the differences between my risk and the average risk were relatively modest.
23andMe also has 'Preliminary Research Reports' which give you some information about diseases that are less well studied. Most of these results were also interesting but not dramatically so. I'll show some of these in future posts, too.
Lastly, after mulling this over for a bit, I thought I'd try an experiment. There's been a lot of blog-talk about whether people are ready for direct access to their genetic information or whether this data should be regulated and be reviewed with a physician or genetic counselor. In general, I support an individual's right to access this kind of information. But I also agree that the results can be complicated and confusing and that I might well benefit from an expert's opinion.
So I called my primary care physician's office and told the appointment-taker I wanted to discuss my 23andMe results with my doctor. She said 'ok' and scheduled an appointment for next week. It's not totally clear whether she even knew what 23andMe was, however. I'm pretty sure that when a person making appointments at a doctor's office asks why you want to see the doctor that they really just want to know whether (a) you have something where you should be seen in the next day or so, or whether (b) you can wait til next week. Since I didn't say I had a fever or was throwing up, she picked (b).
Now I have no idea how much my doctor knows about genetics or whether he's ever heard of 23andMe. And I don't know how he'll respond when I tell him I'm writing a blog about this experience. I'll post more after that appointment and after I have more time to go over my results. Thanks for reading!