By DFK | September 04, 2013 at 07:56 AM EDT | 11 comments
As I debated getting my genome tested, here not looking at all of the sequence of my DNA, but only some of the current variations (single nucleotide polymorphisms SNPs, pronounced snips), I went in search of the direct to consumer companies and ended up looking at three (here I am not endorsing any one of them). When I first stared looking at companies (and some have now stopped operation as direct to consumer companies) Navigenics appeared to require the testing be done through a physician or wellness program, both of which I had access to, but neither that I wanted to bother. Certainly, and I may do this, I would like to work with both my physician and wellness program as we can all move along the learning curve. Decodeme was a second company and for me at this time, for reasons you will see later, was too expensive, so I chose a third company, 23andme.
I went online, and reviewed the procedure. Here, pick the service and pay via credit card, then wait for the kit to arrive. In about a week, I received the test sample kit and promptly read the directions. Following the directions, I provided the saliva sample, which took about five minutes of spitting into the tube to obtain the correct volume. The tube cap has a preservative that automatically mixes with the saliva when you close the cap. At this point I put the shipping cap on the tube, placed it in the provided zip-lock bio-bag and placed that into the already addressed return container.
The fact that saliva was used is key to a consumer product. I think the other two services mentioned above ask for a cheek swab. With DNA in every nucleated cell (cell with a nucleus) of the body I guess it really doesn't matter...I just do not see the public drawing an arterial blood sample! And, I would struggle supplying a hair sample!
Now, at this point, I hesitated as I thought do I really want to know all this. I would receive information about my physical traits, RISK OF DISEASE, "drug sensitivity", and DISEASE CARRIER STATUS. The capital letters show the information I was questioning. Well, I though "go ahead the DNA is there regardless of whether or not I know what is says"...into the mailbox it went...I could now wait for the results, which I should see in 4 to 6 weeks.
I don't know if business was slow or if the laboratory folks were just super-efficient because I got the results in three weeks...here we go!
Now some of you may be thinking let's get to the good stuff. What diseases is he at risk for, what disease does he carry to pass along...not so fast! We are going to start with the simple things, what my DNA states about my physical traits. We'll cover this over the first week or two. Take a look at "About DFK". Check the link on the menu at the left. Some questions come to mind right away: 1. I know I can taste bitter substances, my genetic make-up says otherwise. (Note to self #1 My DNA does not get it correct all the time. Note to self #2 ask 23andme for a refund!). Really, it is all relative. my DNA is not saying I absolutely will not taste bitter substances. Green eyes versus brown...My DNA states that I "Likely Brown"...well, the person who set up the 23andme automated results put in the term "likely brown" or someone did, because while DNA tells us something, it does not speak!
So why doesn't my DNA match up with my expressed trait all the time...years and years of environment plus some other reasons. Let me know what you think!