PGxCheck...What is our DNA saying?

 

 

 

We need to consider how genetic information

can help us with respect to healthcare. We are able to perform genetic testing more readily,

but how are we using the results? Join in the discussion!

Welcome

Personalized medicine and pharmacogenomics (the influence of genetics on drugs) is here. It is in its infancy and we all will watch it grow. From healthcare professionals to the general public, pharmacogenomics and the broader area of personalized medicine will present a learning curve.


This blog is made possible through an individual making their genetic information available. 

As we learn what this individual's genetics are telling us...and what it is not telling us, we will discuss it. I am sure there will be many questions. We will have individuals from pharmacy, genetics, ethics, law, and other disciplines adding their expertise and thoughts to the discussion. I sincerely hope you will contemplate the information, formulate your thoughts, and participate in the discussion!

Personal Genome...The Process and Initial Thoughts

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!

11 comments | Add a New Comment
1. Joey Muscarella | September 04, 2013 at 09:01 PM EDT

I think it's very intriguing how many different traits this test recognizes. I was surprised to see the measure of blood glucose. Seeing this makes me extremely interested because I, myself, am a Type 1 Diabetic. I was diagnosed when I was about 9 years old. If methods like this genome evaluation were advanced to the point where it was a common practice, I hope it could be used to possibly detect genes that express a susceptibility to conditions such as juvenile diabetes. I feel that it would have helped if I were able to detect a chance that I may have been at risk of developing Type 1, so that's another reason why I find this study so interesting. Also, as of right now, there is no cure, but since Type 1 diabetes is supposedly genetic, maybe studies like this could reveal information that will help with the treatment, prevention, or maybe even a cure for conditions such as diabetes.

2. DFK | September 06, 2013 at 11:01 AM EDT

Certainly we will learn more as time progresses relative to the genetic influence on disease risk. I am posting some 'baseline' information and a look at disease risk right now! Hopefully you will get an idea of how this information works.

3. Katlyn Brown | September 06, 2013 at 05:06 PM EDT

To me this type of testing is the future of medicine. I think that as society advances people want to know more and more , especially if it affects them and their family. To me it is interesting in how the different companies work. I agree with you that choosing a company where your physician and wellness program work together is the way to go because then everyone is on the same page and the information know is laid out in front of you at one time and you aren't faced with trying to \piece it back together.\ When it comes to your DNA not matching up with the expressed trait, I think that the DNA simply means the chances of that trait are more likely, but not guareented because there are many other parts that effect the outcome of us.

4. Mariah | September 07, 2013 at 09:22 AM EDT

I think this study is very interesting. I have a sister who was diagnosed with Holoprosencephaly at birth and we have gone the the National Institute of Health twice now to participate in the research the doctors there are doing on what happens in the DNA to cause this disability. I think that the improvements we are making in the research of DNA is going to be extremely useful in the future. If tests such as this one are done on young kids it would help parents raise their kids so that they are healthier and prepare them for risk factors.

5. Anna Furman | September 07, 2013 at 05:14 PM EDT

I found it interesting that the DNA sample showed muscle performance. I didn't realize muscle performance was genetic. I wonder what other traits supposedly developed with practice and usage are actually predisposed. What if you hadn't been a sprinter? How would you know that you had that ability? On one hand, it would be great to know ahead of time what a person's intrinsic abilities are, so that they can proceed down that path without hesitation. However, passion is also essential in finding one's calling. So, being born with a talent doesn't mean you will necessarily succeed or want to succeed in that field.

Nevertheless, the ability to know which diseases and health issues you have a predisposition for is a great way to create a personalized healthy lifestyle. I am curious to see how DNA plays into the effects of drugs on the body. It would be nice to decrease the amount of guessing and experimenting that doctors, patients, and customers have to do when taking and prescribing medications.

6. Celine Raible | September 09, 2013 at 09:14 AM EDT

I found it very interesting that one can buy an online kit to get their genome tested. I always thought if you wanted to find your genetic risk of a disease, you had to visit a doctor that specializes in genetic testing. I'm looking forward to gaining more knowledge throughout your upcoming posts!

7. Jessica Delbecq | September 09, 2013 at 01:19 PM EDT

I actually would not mind ordering a kit of my own. There are many traits that run in my family, good and bad, that I would be interested in finding out about.

8. Seth Wollenhaupt | September 10, 2013 at 10:29 AM EDT

I believe that this type of testing could be beneficial if it is used properly. As Joey said, he hopes it could detect for things like diabetes in the future. However, I believe test like things can lead to massive chaos from the average American. Some individuals would not distinguish the idea of having the risk of getting it and actually getting it. I do believe this information could be very useful if it was used in proper ways, yet it could also cause widespread freak outs if not used properly.

9. Joshua Macks | September 11, 2013 at 01:58 PM EDT

I was amazed that someone could do research on what diseases that one is at increased risk for from a mailed in package of saliva. To think that you can find out literally everything that a person is coded to be, their life instructions, from a small tube of saliva is utterly mind blowing. I think that it is a great scientific achievement, and that it should definitely be pursued by those whose have bad diseases run in their family, although the choice is ultimately up to that individual.

10. Paige Ordean | September 11, 2013 at 05:25 PM EDT

I think it would be cool to learn some of the traits that I have a higher risk for. Also, it would be interesting to see which traits match up with the DNA results. It's strange that some traits don't match up with the results and I find that weird because the traits should reflect your DNA.

11. Diana Ivankovic | September 15, 2013 at 10:18 PM EDT

My husband and I just recently sent our saliva to \23AndMe\ and his results came in, while mine are still on the way. It is amazing how many phenotypic characteristics about him they got right! The eye color (blue), hair color (blond/red), hair texture (straight with some wave in it), the ratio of the index finger to the ring finger, the length of his fingers and his muscle performance (he is a very fast runner). In regard to diseases, they said that he had a higher chance than average to develop rheumathoid arthritis (which he already did), psoriasis (it runs in his family) and colorectal cancer (he is 47 and already had polyps removed 5 years ago). After this genetic test, he hurried and scheduled a new colonoscopy appointment. It is amazing how many lives this type of testing can take credit for saving! I will share my results as soon as they come in.

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