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|
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.