Thursday, September 19, 2013

Me and My 23 (pairs of chromosomes)

Recently I became aware that it's possible to courier a saliva sample to America and receive back a quite detailed report of your inner self.  Your genetic inner self.

This may not be everyone's idea of a fun way to lose some cash, but my immediate reaction was pricked up ears and a strong case of the wants.  The 8 week wait for analysis challenged my patience.

23 and Me
The system is a joint venture between biotech company DNA Genotek, and 23 and Me, who have developed a method of delivering the genetic data and background research in terms that a regular person can understand.

23 and Me also collect data from users (it's optional to add your profile to the pool) which may be used to look for previously unknown trends. They are also constantly updating their research database. The last feature means that your online risk profile changes to reflect the most recent scientific position.

The results are delivered in the categories of ancestry composition, health overview and Neanderthal ancestry. For some reason the Neanderthal percentage is of utmost interest within the group that I couriered my sample with.  I think it's the new status symbol, or perhaps an emerging pick-up line? "Hellloooo....How Neanderthal are you?"  Sexy talk.

For the record I contain 2.9% Neanderthal genes, which is .2% higher than the average European (I'm a cavewoman!), but was the lowest percentage in the mixed-ethnicity group (not so much then..).

Having determined that I'm averagely prehistoric, I focused on my primary interest: the health data. The report details 120 health risks (increased, decreased, average), 50 inherited conditions (carrier status), 60 traits (curly hair, eye colour, bitter taste perception etc etc.) and 24 drug responses (increased, decreased or typical response).  The report is vast and very detailed. For any disease risk (say, psoriasis), you can click through for info on what the disease is, which gene variant is linked to it, which studies have investigated the gene/disease link and what may be the estimated contribution of environment to the disease process if you have that gene.  You are also provided with the basics of managing the disease, links about the disease, info for your doctor (I'm sure doctors love it when patients turn up with a folder of stuff from the net, haha), and you can then access a forum dedicated to people with that variant. Intense, yes?

In my case, there were few surprises, except that I'm a carrier of a phenylketonuria variant. The ancestry result was a bit unexpected, mostly because I'd always assumed (by my look, and that of my father's family) that we have some middle eastern genes.  Nope.  100% Northern European.  In spite of being a fifth generation kiwi, I have not a single oceanic gene.  The shame.

As I lack a Y chromosome, the report only showed the maternal line as regards haplogroup. The haplogroup is a kind of supergroup of haplotypes that share a common ancestor. My maternal haplotype (parts of DNA that are inherited together), H6a1B, is a subgroup of haplogroup H6.

A couple of things that I hadn't anticipated were also part of the report. I now know that I am a 'secretor'. This means that blood type antigens are detectable in my saliva - those of you familiar with the blood type diet will know that this helps nail down suitable foods.  I also know that I do not carry the APOE-e4 variant, which is interesting as regards managing my cholesterol (amongst other things, APOE-e4 people can have odd reactions to Omega 3's).

Because APOE-e4 status is strongly linked with Alzheimers risk, this information was in the 'locked reports' section. This segregated set of reports appears to be an attempt to overcome the big question of genetic profiling: is too much information dangerous?  The other information in the locked section spills the beans on presence or absence of a nasty BRCA1 gene variant which is linked with massively increased risk of breast cancer.

In order to mitigate the situation, 23 and Me make you work a bit harder for these sensitive reports. They ask you to basically, consider how badly you will freak out if you find you are genetically vulnerable.  They then present every disclaimer their lawyer could invent (including that saliva samples may deliver a false positive) and suggest unlocking the report in the presence of your doctor and perhaps a genetic counsellor in case the news is bad.  

In my case, I absorbed the pep talk, then my patience expired and I clicked through to the 'unlock' button. Luckily there was nothing scary inside the vault.

I can imagine, however, that sitting at home having a few wines, browsing your genetic profile and discovering that you have a greater than 75% chance of developing breast cancer, or are on track for dementia, would be a very bad evening.  At university we have long arguments about managing the psychological effects of including a single genetic test in studies, and yet you can now just get online and scare yourself silly in complete privacy.  

Obviously the issues are many and the implications for social functioning and relationships head off in the direction of Sci-Fi.  Personally, I found the experience worthwhile, enjoyable and consider it $180 well spent (especially as an APOE test alone is $120 in NZ).   My personal stance is that knowledge is empowering. Forewarned is forearmed and all that. However, in my case the most distressing finding was that I'm a very slow metaboliser of caffeine and should definitely drink less of it (not surprising, but.. waaaaah!).  I can't honestly predict how I might have reacted if I'd uncovered something nasty, or even just a long string of increased risks. 

So, what do you think?  Fascinating? Irresponsible? Biotech having finally lost its little mind? Something you'd love to try?  I'd be interested to hear your thoughts on all this in the comments.


  1. I am 3.1% Neanderthal, which apparently puts me in the 97th percentile. Hamish is 2.6, which he was really proud of until I got results back! I'm almost exclusively Northern European. With my recent family history of autoimmune issues I was sure I was going to have some really interesting results, but other than a slightly elevated risk of Type 2 diabetes and of Atrial Fibralation I'm actually pretty sound! Hamish is at lower than average risk for just about everything. So good to know, but doesn't exactly help to explain why my body keeps destroying different parts of itself. Hopefully as the tests become more refined in the future we'll be able to learn more.

    1. yes, even this huge pile of insider info barely scratches the surface. Autoimmune conditions are very interesting and attracting quite a bit of research these days. Vitamin D looks like it might be a bigger deal than previously thought, and of course there is always gut healing to look into. Leaky intestines have a lot to answer for!

      Everyone wants to be Neanderthal huh? Go figure.... ;)

  2. Honora8:23 pm

    Hi Sara. Snap on the neanderthal and the coffee results! What was fascinating was the ancient maternal haplotype that stretches all the way to African Eve. Mine is L1b which appeared about 30,000 years ago and most of them are still living in Africa especially Nigeria and Guinea. Some have made their way up to Morocco and the Canary Islands, thence to Italy and Spain. A close group is the Biaka (Pygmy)people. Intriguingly, I'm 99.9% northern european and 0.1% unassigned. Perhaps this is where the maternal haplotype came from?

    50% reduction in risk for Alzheimers with my APOE e4 e4 genotype and slightly increased risk for Parkinsons. Probably to do with the MTHFR profile results which affect folate and Vit B12 metabolism. From looking at the methylation profile results it looks as though I'll be OK to take methylfolate and methylcobalamin rather than other forms. Been studying Ben Lynch's site for guidance on this as well as some others.

    Every day I'm finding out new stuff through third party companies such as Genetic Genie who run the methylation and detox panel analysis for a voluntary donation. All you do is click a button pretty much - awesome. I've discovered a homozygous result for the MAO-A R297R which affects neurotransmitters and may explain a few things in the family.

    Bloody steep learning curve. I've been following some of the threads and they're way beyond me with the technical jargon. I checked out 3 close DNA relatives and heard back from 2 of them. One is a guy in Wgtn who is the great grandson of my grandmother's big sister. Really cool to follow the Afro-American blacks discovering their roots through Africa 9 and their being so disappointed to find how much European they've got in them. I may use Africa 9 to track down what my 0.1% unassigned actually is.

    For me nitrous oxide and riboviron therapy aren't good. That explains a reaction I had at the dentist's! How I laffed and laffed! And now I have more reasons to eschew aluminium cookware. One can explain any faddiness away with genetic explications from here one. Lucky call for me to on the 3 nasty variants of the BRCA gene. I mentioned about 23andme to a geneticist at work and gave her my password so she could have a look at what info they provide. Hope to pick her brains in return as the need arises.

    1. Wow Honora, I admire the way you've checked this out. You inspire me! I haven't checked the MTHFR result closely yet. There's so much info in there that I've only looked at the most obvious stuff for the moment. I need to make some to conduct a full investigation. I know, the caffeine result was devastating. Also, I haven't forgotten we are planning a coffee meet up, but will be away for the next couple of weeks and have been desperately trying to get my research project sorted (issues.. many issues...)

    2. Honora10:17 pm

      Really helpful sites are also Return to Autism which shows the methylation pathways _ and Methyl for Life which gives info on methylfolate and other supplements - Gradually starting to get a grip on all this.

  3. Aargh! I left a LONG comment here on Thursday night. I'm never using my iPad again for blog comments.... *sulks*

    Anyway, you might remember that I had some limited genetic profiling done a few years back. It was very expensive then, around $350 for only 15 genes (targeted specifically to some that have a bearing on fitness and nutrition stuff), so I'm very excited that the cost has reduced so much now. I'm getting me one of these tests!

    Finding out "bad" news doesn't bother me. Not knowing doesn't change the fact that it's me, it's a bit like sticking your head in the sand. And if you DO know, you can potentially do something about decreasing your risk, at least with a lot of the gene variations. Often, simple lifestyle, exercise or nutrition modifications can have a dramatic effect on potential outcomes.

    It's a fast-evolving branch of science and I'm sure there's way more to be discovered over the coming years. I'm betting that genetic testing will become commonplace in the future.

    1. Doooo it! I was thinking of you when I did the post actually, it seems like something you'd really enjoy. Also, not a biggie, but if you use one of the links in the post, I get an Amazon voucher. :D

      I agree about knowledge being only helpful. There is so much coming out now in nutrigenetics and nutrigenomics that suggest even highly dodgy genes can be managed quite well with a healthy lifestyle - specifically, lots of fruit and veg. There are so many things in plants that directly affect gene expression, perhaps even silencing disease genes.

    2. Oh, and sympathies on the missing comments. The same thing happens to me with my tablet (Android). Very frustrating.

  4. Anonymous2:20 pm

    I came across this item while exploring blood types with the intent of correlating my mother's blood type with her haplogroup (H6). To this point, there is a high degree of correlation between the two, the whole of which is quite fascinating. In fact, I have extended it to H in general, trying to track down a more specific migration route. As for the health information, 23andme has to hold back on that at this time; something to do with the U.S. government being concerned about the accuracy of the information given to subscribers. Onwards and upwords and a toast to all.


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