Who is this old guy, really? (or 23 ways to skin a man...)

***UPDATE 2013-11-25 *** The FDA has told 23 and Me that they must stop selling their tests. It looks like it is still available on their web site, so I'm going to see if I can still order. Stay tuned.

Is 40 really the new 30? It's hard to say. What I can say is that at 40 there are times when I am starting, just a little bit, to feel old. Not old-fogey old, mind you. Just legitimately grown-up old.

I recently went to see my doctor, who has been my family doctor for over twenty years and has seen me probably less than a half dozen times. Since then, I have now experienced physiotherapy for a bum shoulder, and have been to the hospital for blood work to ensure that I'm still functioning as expected (SPOILER: I am!). But the more interesting thing I had to talk with him about was genetic testing.

No, not THAT doctor!

You see, my brother has two children, both of whom have cystic fibrosis. If you're not aware of what CF is or does, the brief rundown is as follows: when one has CF, their mucous production is overactive. Not just in the nose or external area, but any mucous membrane in the body will produce excess mucous - in the lungs, in the digestive system. This causes breathing difficulties, digestive problems leading to malnutrition, and subsequent immune failures. There is more information available here. If you would like to give to make CF better (or gone!), it would be appreciated.

CF is a hereditary disease that arises when both parents pass the carrier gene to a child (the odds are one in four that the child will develop the disease - yet my brother and his wife managed to go two-for-two). I am no geneticist, but I can give you some simple conclusions that can be drawn from this this fact. If a child has CF, then both parents are carriers. If one of the parents is my brother, then my brother is a carrier, and therefore at least one of my parents is a carrier. If you follow the tree down the other way, this gives me a roughly one in two chance of being a carrier myself, and therefore I could pass a significantly higher than average (1 in 25, incidentally) chance onto each of my two children.

So, to get back to my visit with my doctor, there I was am seeking genetic testing. Being the father of two young men, I am aware that the time is approaching when they may want to become fathers themselves. It might be useful for them to know if there is any reason to be concerned about passing this condition on to their children.

What I learned from my doctor's visit is that to have this kind of genetic testing done I would have to get it done myself. What I mean by this is that if you rely on the public health system for this, you will be waiting a looong time. In my case, after a couple of years wondering when this was going to happen I suggested to my doctor (and he agreed) that I should try "23 and Me".

Here is the last guy who decided to wait for genetic testing from a doctor.

If you are unfamiliar, 23 and Me is a US-based company that offers genetic testing to the general public for the low price of $99 (+$60 shipping for Canada). That's a lot less than the roughly one zillion dollars I had been expecting. You simply send them a bottle of your saliva and they analyse the DNA they extract from it and provide you with a report on what they find. They can tell you about a number of health risks that you may or may not have, whether you are a carrier of some inheritable diseases (like CF), and even provide details about your ancestry and living family members around the world. I had heard about the service from numerous advertisements on podcasts that I listen to, and after doing some research into the reputation of the company I decided that this was something I wanted to try.

Bear in mind, some people may find out some information through this process that they would rather not have known. Maybe you have health risks that will cause you to worry. Or perhaps your ancestry is not what you expected - there are surprises in your family tree.

Y U no smile, Cobb?

I didn't really fear any of that, so it was a pretty easy decision. I ordered the DNA sample kit and received it within days. A note to anyone in Saint John who wants to try this out: 23 and Me used DHL to deliver and provide return shipping for the kit. There is no DHL location in Saint John, so the package was delivered via Loomis. Or rather, attempted by Loomis, since I work days and could not be at home to receive the package. This meant that I had to go to the Loomis depot, which is located out in the industrial park behind the refinery. Even worse, I had to be that at 7:00 in the morning or 4:30 in the afternoon when the drivers are actually at the depot (it is closed all other times of day). This was inconvenient, to say the least.

Aside from logistics problem, it was pretty easy to take my sample and mail it off. Although they claim results will take 4-6 weeks after receiving the sample, I had some initial results within 2 weeks. I say initial, because the health results were completed first, followed by some ancestry results a couple of weeks later, and finally the full results shortly after. I received helpful email notifications throughout the process from 23 and Me, and all the result are available through their easy-to-use website.

So what did I find out? I discovered that I am, in fact, a carrier for CF (although I do not have the disease myself). However, my profile for other various health risks is very favorable; I have, for the most part, kick-ass genes. I can say that overall I was very pleased with my results - the data is very thorough and informative. Furthermore, the ancestry results are fascinating - it seems that I am possibly the descendant of a particular randy 5th century Irish king, and can count Stephen Colbert among my current living relatives.

Cousin Steve. Fights for Truthiness. Afraid of bears.

As an aside, I find it absolutely mind-boggling to think that there are people today who believe that this world is only 6000 years old based on some unintelligibly literal interpretation of the Bible. I remember being in church once and having a person stand up and declare the evils of accepting the theory of evolution. I believe I applied my palm directly to my face at that point. This technology confirmed my fair skin, my blue eyes, that I sneeze when I step out into sunlight, and that I can pass on the CF genetic variation to my offspring, all from a saliva sample with no additional background information. This same technology shows that I have roughly 2.8% Neanderthal DNA and can trace back my lineage to before the last ice age 12,000 years ago. I am not a biologist, and even I can understand how this works. Even if I didn't, to deny it would be simply to manifest willful ignorance. If you don't accept the fact that mankind evolved from other life forms over millions and billions of years, I have trouble understanding how you can can even submit to modern medicine which requires these very facts to be true.

Maybe I'll discuss this more in a future post, but that's my rant for now.

Another one of my not-so-distant cousins. Let's call him Jeff. Jeff likes you.

It is also worth noting that there are a couple of items located under "Health Risks" that do not show the results in the list. These are things like Alzheimer's and Parkinson's. If and when I choose, I can look at these results; until I do they are not visible to me. As I said before, there are many people who could be devastated by finding a positive result for these. I am not one of them. However, I will only look at these after I have consulted with my family to see how they feel about it. This is obviously the big drawback with this kind of service - you are presented with the data, when in some cases the data rather than having a doctor present who is skilled in consulting patients in these types of matters. I am sure that for some of my doctor's other patients he would not have advised this service, but he knows me well enough to know that I can manage this kind of information on my own.

There is also a feature where you can contact relatives and build a genealogy. The possibilities are immense. I will be exploring my results for the next little while, making decisions about what information I want to make available to my newly-discovered family members, and considering my place in humanity for some time to come. For this, I am very glad that I had the DNA mapping done. I highly recommend 23 and Me.

If you have any questions about the process that I haven't covered, please let me know in the comments, or feel free to contact me privately.