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!


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!

Would you want to know?

The implications of Alzheimer's disease (AD) are of concern, especially early onset. My anxiety has now 'peaked' as I scroll down to see my results. I was not anxious at all until I got to the actual point of looking at these results.


The APOE gene has been associated with risk of AD. There are three variants of the gene that infer different risk. These variants are determined by two single nucleotide changes (polymorphisms (SNPs)).


For me, the results indicate that for the first SNP of interest, my genotype is CC (remember one from each parent). The second SNP of interest indicates a genotype of TT.


Ok, what does this mean? First, the rs number is a specific and consistent number used to note that SNP. i.e., that single change at that point in the APOE gene. The combination of SNPs is used to determine the APOE variant. For me, the C + T (in both cases, I had two Cs and two Ts) = the variant E3, so with a C and T from mom and a C and T from dad, I am an E3/E3.


As it turns out, this variant inparts 'normal' risk. While I am a bit relieved that I was not E3/E4 or E4/E4, because E4 imparts increased risk of earlier onset AD, I know that more than 50% of people with AD do not have the E4 variant. The E4 variant, again, appears to impart increase risk of early onset AD. The E2 variant may be 'protective'.


In a study of over 3400 individuals, the frequency of the different APOE variants were:

E3/E3 - 63.9%

E3/E4 - 19%

E2/E3 - 13.7%

E4/E4 - 1.7%

E2/E4 - 1.3%

E2/E2 - 0.4%


Remember that your DNA does not change throughout your lifetime, so what you have DNA wise is what you have!

So I you want to know your risk of AD based on genetic markers (SNPs and gene variants)? If so, why? If not, why not? What are some of the ethical, legal, and social implications?

18 comments | Add a New Comment
1. Kim Trask | September 17, 2013 at 10:17 AM EDT

I think that being interested in chemistry and biology my entire life I would be intrigued to sequence my genome and find out every little nuance that helped make up who I am. It would be interesting to find out what markers came from my parents and how those may affect me in later years of my life. A big aspect that I think is helpful in this situation, as well, is the ability to be more preventative in my health care. If I knew what disease states my genes were at a higher risk for, I would be able to more accurately prevent them from a fast onset. It would also be beneficial to my children, who may also be at risk because of the partial DNA they inherit from me.

That being said, I would also not want to live my life worrying about every disease I may have an increased risk of having. I would become paranoid about prevention for the few diseases that seem most applicable to me and not be able to live my life the way I would have if I was oblivious about it. The social negative implications, for me, outweigh the scientific knowledge because I am a worry wart.

There are of course some legal implications that come along with genetic testing. Since this is a relatively new procedure in today's world, there seems to not be sufficient laws that protect patients' rights and information after sequenced (in my opinion anyway). I think that in the future, when society figures out how useful it could be and when more individuals would want to participate, there will be more attention drawn to the matter and better laws to protect information. Will all of this new technology, we have to be careful of the ethical issues, as well, and not overstep our human boundaries. One of the things that always scares me about genetic testing and ability to pin point markers that cause diseases is that parents may choose to abort babies that have increased risk of diseases. They think they are helping that child by not putting them through a rough life, but ethically and morally, that does not seem correct to me.

With great power comes great responsibility.

2. Hanna Morelli | September 17, 2013 at 11:48 AM EDT

While this genetic information is very interesting and can potentially be used to prevent diseases that a patient is at risk for, I would not want to know what my risk would be based on my genetic markers. I feel like knowing my whole life about what diseases I might have would cause me to worry and not really live my life.

I do however think that this genetic information could be very useful for patients who are already sick to see if they are at risk for other possible diseases in addition to what they already have. This way health professionals could use the information to prevent other diseases that the patient may have.

3. Katlyn Brown | September 17, 2013 at 01:40 PM EDT

If I had the choice to know my risk of AD, I would want to know. My grandfather was dignosed with AD which radiply took away his short term memory. In his case he could tell you all about his childhood, but was unable to recongnize you by name. In my case knowing that AD has affected my family I would like to know my risk for me personaly and my family later on in life.

If people know their genetic risk for diseases they could take procedures to help lower thier risk. People might live healthier lives or change their habits if they know that it will lower thier risk of disease. This amount of information could be overwhelming for some as well. After learning that they have an increased risk for something they could worry about it constantly instead of using the information in a positive way.Legal issues over privacy are a huge issue in today's society. This could become an issue for insurance purposes. Ethicaly speaking I agree with Kim as posted above. If parents start testing their unborn children to see if they have an increased risk of disease they could choose to terminate the pregnancy just because of that result,where in the end the child may have lived a perfectly healthy life with just an increased risk.

4. Victoria D | September 17, 2013 at 04:18 PM EDT

Personally, I would not like to know if I had a higher risk for disease. It would make me paranoid and I fear that if I know the outcome of my life that I may not try as hard. If I knew I was at a higher risk of potentially forgetting everything I am learning, why would I even try 110%? Life to me is about living life to the fullest. It sounds cliche but oh well. If I knew that type of information, I may also become angry and grow apart from people. There is the other option; I would grow as close to those I loved. But for what? To forget them and make their life a struggle later on? I just do not think that it would be a good idea for me to find out the risk. I already have a higher risk for cancer in my family and that information is enough.

From a ethical standpoint, I would have to agree with Kim and Katlyn. I am against abortion and it would be so wrong in my eyes to terminate a pregnancy if the child has an increased risk.

5. Kendra C. | September 17, 2013 at 04:35 PM EDT

I think that it would be interesting and slightly terrifying to find out if I ran the risk for AD based on my genetic markers. I mean, on one hand, I would definitely want to know if my risk of that disease was higher. I would want to be prepared for whatever was going to come down the road for me. On the other hand, I think that knowing I was at risk for AD would greatly change the way I lived my life. I don't think I would enjoy making memories and experiencing new things as much as I do now because I would know that, at some point down the road, I could possibly have AD. I think that, for me at least, knowing that I ran the risk AD would alter my life in a negative way. I would just be too worried about my future that I wouldn't enjoy anything that was happening in the present.

I think that there are lots of social, ethical, and legal implications. For me, at least, I think that the social implications could go one of two ways. Either people who were genetically screened would try to live healthier lives, in order to decrease the risk of the diseases that they already have a high risk for, or people would just constantly worry about the state of their health. On one hand, the social implications would be a benefit to society. On the other hand, the social implications could very well negatively affect a person's life. The ethical implications could include what was mentioned above by both Kim and Katlyn. If a baby did have a higher risk for having a genetic disease, parents could choose to terminate the pregnancy. In today's society, that should be a great concern. There is such a pressure to be perfect that I'm sure parents wouldn't even want to imagine that their child would be born as anything less than that. Some parents might not even think that their unborn child could live a perfectly healthy life. The legal implications would definitely include more legislation pertaining to privacy. Health records and privacy are a big deal in this day and age and there would definitely be new laws in order to protect the rights and privacy of individuals who went though genetic screenings.

6. DFK | September 17, 2013 at 05:14 PM EDT

Great comments and let's keep it going. The protection (legal) that individuals have from a national perspective is GINA, the Genetic Information Nondiscrimination Act, which went into effect in 2008. This protects individuals from discrimination by employers and health insurers.

7. Myranda | September 17, 2013 at 08:48 PM EDT

I would certainly not like to know. We did an entire genome and ethics debate concerning this same topic material in my Biomedical Engineering class in high school, and it was so shocking for me to really think about \would I want to know\ and potentially spending my whole life trying to avoid what my genetics programmed my body to do.

It's also strange to think that there are people who's jobs it is to explain the potential genetic risk factors to parents about their potential child and the risk factors for that child (that job being a Genetic Counselor).

8. Clayton Miller | September 17, 2013 at 11:23 PM EDT

When it comes down to knowing or not knowing what possible diseases or risks I may encounter in the future, I, personally, would not want to know my risk of AD or any other diseases. Looking outside of the personal box, it would be very intriguing to see how these diseases are even possible to determine based on genetic markers and human DNA. However, if caught in the situation between having or not having a potentially dangerous disease, the idea of it all is nothing less than frightening and real. Overall, the scientific importance of this ability to use genetic markers for pathology is much less than the social aspect of realization and acceptance of what YOU are made of, whether or not it is what YOU desire to have.

9. Jasmine Hossler | September 18, 2013 at 01:05 PM EDT

I think I would want to know how high of a risk that I had of getting AD because people in my family have had that disease. If I knew I had a good chance of getting it I would be able to prepare myself and my family for the times I would not be able to remember. Legally, I would not want insurance companies to have access to my genetic information because if I needed a life insurance policy my genetics could effect my ability to get the life policy.

10. DFK | September 18, 2013 at 02:36 PM EDT

Wouldn't you want to know if you had increased risk for AD? Here you could get your affairs in order just in case. Just a thought.

11. Sam Blake | September 18, 2013 at 07:26 PM EDT

So I you want to know your risk of AD based on genetic markers (SNPs and gene variants)? If so, why? If not, why not? What are some of the ethical, legal, and social implications?

I would not want to know my risk. That type of information hanging over my head is not only something that I can't change but something that i don't even want to deal with at such a young age.

The ethical implications could be dangerous in my personal opinion. When it comes to insurance companies, they can use anything to want to drop coverage. This seems like pretty good reason for them to want to drop you.

Legal wise....what if someone tried to use their known genome as an excuse to get away with a crime?

The social implications seem a little better to me. Those that want to know then have the choice to know, and knowledge is power.

12. Joshua Macks | September 22, 2013 at 01:06 PM EDT

I would absolutely want to know what diseases I was at higher risk for due to my genetic markers. The reason I would want to know this is so I could better prepare myself, mentally and physically, to combat the diseases if I developed them or be able to adjust to living with them.

Ethically, the only problem I could see is that insurance companies might increase costs or just drop the patient completely.

Legally, I see no potential problems.

Socially, it may cause gossip between catty people, but other than that I see no potential problems.

13. Anna McCloud | September 23, 2013 at 01:44 PM EDT

I would want to know my risk for developing Alzheimer's Disease so that I could take many actions throughout my lifetime to prepare for the diagnosis. I would be more inclined to live my life to the fullest and not take anything or anyone for granted. I would be able to prepare my relationships and health to the best of my ability. One of our family friends was diagnosed with Alzheimer's Disease and it quickly developed. Since it developed so quickly, he was not able to say goodbye to his family and he was not financially prepared for such medical complications. With some sort of prior knowledge on his risk for developing Alzheimer's, both him and his loved ones would have been more prepared for the effects of this disease.

14. Paige | September 25, 2013 at 06:10 PM EDT

I would not want to know if I had a higher risk for getting Alzheimer's disease because I would know that in the future everything that I did in my life, I would forget. Knowing that I someday wouldn't be able to recognize my own family's faces would be a depressing thing to know ahead of time.

One good thing about knowing if someone was going to develop such a terrible disease would be that they could be better prepared financially for the cost of the care it takes, such as being in a nursing home or any medications that help slow the development of Alzheimer's disease. I think that everyone should learn how to start saving money now so that if they do have any diseases later in life, they could be more financially prepared.

15. Lindsay Gabor | September 25, 2013 at 08:06 PM EDT

Personally, I like to leave things alone and just go with the flow of this thing we call life, but if I were to be able to know if I was to have an increase possibility of getting a disease such as AD, I would want to know. Reason being is that I've volunteered and worked with residents at an elderly home who have deterioration of their memory and seeing the repercussions that go along with that would cause me to want to know. The family members seem to be most affected and not in a positive way. I would see sons and daughters visiting someone who didn't even know or recognize them. They just got to watch their mom or dad die to a certain extent, and not just physically, but mentally; to say the least, it was sad. There also would be times where the resident would begin to pack their belongings and insist that their family was going to pick them up later when there was no one coming for them. There seemed to be so much hope for both sides, yet no results. I would want to know so that when my memory would start to slip that my family would be more prepared in order to deal with it.

16. Jessica Delbecq | September 30, 2013 at 10:40 AM EDT

I personally would not want to know anything about my future, health wise. I do not think that I could look at my DNA as DFK is. Finding out things about my future (such as my chances forgetting AD) would not be good for me. If I ever did figure these things out, I don't think it would be possible for me to live normally again. Worrying about what was going to happen to me or when it was going to happen would consume my life.

17. Seth Wollenhaupt | October 01, 2013 at 07:25 AM EDT

I would not want to know ahead of time any genetic risks I may have because it would be paranoid my entire life. Causing widespread panic isn't the best. Several people aren't the most intelligent human beings and would misinterpret information like this

18. Kortney Manning | October 01, 2013 at 10:11 AM EDT

I personally think that it is great that we have the advances that we do to be able to figure stuff like what our DNA says about us. It is amazing really. However, I do know that, for me, DNA testing would be an extremely frightful thing. As others have said, I know that I would spend my time worrying over the results and trying to take preventative measures for diseases that I only have an increased risk of getting.

Also, if everyone in the world got a DNA test, then there would be wide spread panic. As a general rule, large groups of people would freak out and panic about something such as their DNA testing, and the communication would be poor enough or peoples' brains would shut down when they were told that they had a greater chance of some disease, and wouldn't hear that they had a greater chance, only that they would get it, which is not always the case. Then people would be going crazy and thinking that they were going to die, and things would go downhill quickly.

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