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!

Anxiety Provoking - Would you want to know...how about your family?

Alzheimer's Disease - The neurodegenerative disease that leads to a loss in the ability to function, even at the simplest level. Would you want to know if you were at a relative increased risk of the disease? Would you want your children to know? After all, you pass your genetic information on to them. 



What if your health insurer found out that you had an increased risk? There are some legal protections in place to help prevent discrimination. The Genetic Information Nondiscrimination Act (GINA) protects individuals from discrimination based on genetics by employers and health insurers.



Here is what JES found:



Alzheimer's Disease  JES risk 14.2%     Average risk 7.2%     1.98x



JES has one copy of the ε4 variant, which imparts an increased risk. This genetic information, like all genetic information and unlike most laboratory data will not change over a person's lifetime. Whether talking about disease or a response to a drug. Your genetic information does not change over a lifetime. If you have the ε4 it will not go away.



Consider the questions above questions. Personally, this would be a difficult one to answer.

 

28 comments | Add a New Comment
1. Sara | February 12, 2013 at 11:17 AM EST

Yes, I would like to know if I was at an increased risk for Alzheimer's. Even though there is nothing to prevent it, there is a drug that helps to slow the progression. I would be able to tell loved friends and family member to watch out for the early signs to start the medicine as early as possible in order to avoid full-on progression early on. I am at risk though since my grandmother had it and passed away from it. I do not act any differently just by knowing this, so I would see no issue in telling my children as my mother has told me.

If my insurance company found out, they should not be able to do anything. If they decide to take action, there would be legal violations to my rights. They should not have any issues insuring me anyway considering Alzheimer's does not usually hit until way later in life. Even if the disease presents itself, if the medication works correctly there is no major cost for insurance to worry about (except the medication of course).

2. Abbie Schauble | February 12, 2013 at 11:24 AM EST

Personally, I would want to know if I had an increased risk for any disease even if it was one of such great neurodegenerative magnitude such as Alzheimer's. The point of submitting your DNA to be tested is to receive results about which diseases you are and are not genetically predisposed to developing. I would want to know as much information as possible in order to possibly make some lifestyle changes in an attempt to prevent the onset and development of any diseases I had an increased risk for. Also, if I had a high risk for developing a more serious disease, I would still want to know about it and make any changes possible to try and prevent myself from acquiring it. This would also allow individuals to cherish life a bit more because in the back of their mind they will always know there is a possibility of onset of a serious disease in their future.

I understand some people may feel differently about being informed about the more serious diseases, such as Alzheimer's. Knowing about an increased risk may provoke anxiety among certain individuals. This is why it ultimately comes down to being a personal decision for the specific individual.

Finally, if I were JES I would not be too concerned about a relative risk of 1.98x the average risk. The possibility is in his future, but once again it is simply a relative risk. Nothing is certain based solely on the results from this data. There is a very good chance that JES will live out his lifetime without developing Alzheimer's.

3. Kenzie | February 12, 2013 at 11:36 AM EST

I would not want to know, at least this early in my life. I wouldn't want to waste my life being paranoid that I have twice the risk of everyone else. Maybe later on when I'm in my 60s I would like to know for my family. It would be helpful for them to know so they can keep an eye on me for early detection. However, this information is a lot of pressure to put on your loved ones, and I'm not sure anyone should have to hold such a burden.

4. Haval | February 12, 2013 at 11:36 AM EST

For me, the greater anxiety would come from not knowing, so I would want to know what diseases I'm at increased risk for developing. Also, you can then take preventative steps and pay attention for signs of the disease developing. However, you can't just look at the disease with the highest risk and conclude \"that's what I'm going to die from.\" It's all based on chance and probability.

I would be conflicted about telling my children, but I would tell them. I would like them to be aware if they were at an increased risk, and so that they would be prepared if I began to develop the disease.

As for the issue of health insurance and employers, I think there's really no way to answer or predict that. While there are laws and regulations that are supposed to protect individuals from discrimination, those laws are in a rather confusing state of flux right now and companies are rather adept at finding loopholes regardless.

5. Joshua S | February 12, 2013 at 12:42 PM EST

JES has a decent chance of contracting the disease based on this data.

As far as my personal situation. I would like to know my risks. More for a research manner, but I would not let the knowledge of an increased risk to change my life goals and focus, or even affect them. They could be a wakeup call to pay attention to how I take care of my body. As for passing the genetic information, I would also let the kids know to better have an idea of how to run their lives based on the many chances we take everyday.

6. Kimberly | February 12, 2013 at 02:05 PM EST

JES almost has twice the risk of a normal person for developing Alzheimer's. Personally, both of my mom's parents had the disease and she's taken many steps to help prevent and slow the progression of the disease in her life. Personally, I would keep my mind active and keep trying to learn new things. One way that my mom did this was buying an iPad. She plays games on it and learns new activities to keep her mind active.

7. Austin H. | February 12, 2013 at 03:27 PM EST

I would not want to know if I was at an increased risk for Alzheimer's. From past experiences of knowing people with the disease, I understand that most of the time those diagnosed are under quite a bit of pressure. They feel as if they are always doing something wrong or forgetting something, so they become in some ways hyperactive in order to try to avoid forgetting things. However, they usually just worry to the point that they are constantly affected by the disease and are forgetting what they did just mere minutes before. It is the worry of the disease that brings out their worst symptoms. Therefore, I feel that knowing I had an increased risk would increase my odds even further.

8. Anh Dao | February 12, 2013 at 05:23 PM EST

I would want to know if I had an increased risk of getting Alzheimer's. I would not be too paranoid about the fact because there is still the chance of not getting the disease. Knowing that I am susceptible to getting the disease will prepare me emotionally. I would be able to do what I have wanted to do that I have been putting off. It would give me the heads up to live life to the fullest earlier. I would want my family to know so they can take preventable steps, such as doing puzzles, keeping their minds active. I would want my healthcare practitioner to know because there might be other diseases related to my relative increased risk. It is best to let them know the whole picture when my life is in their hands when they treat me for something else. There is also the GINA that will protect me from health care discrimination.

9. Nate H | February 12, 2013 at 05:46 PM EST

As with many current questions in the medical world, this question does not have a black and white answer. I personally would want to know if I had an increased risk of developing this disease. Few people realize how short life is until they face death. I believe that facing the grim prospects of Alzheimer would some people (myself included) to live their lives more intentionally. However, there are many people and their families who could not handle the worry that this information might bring them. It is a personal decision that everyone has to make for themselves.

This information should not be available to medical insurance companies, or if it is, it should have no effect on the way clients are charged. This information should only affect the way we live our lives and the way our healthcare providers take care of us, not the amount we pay.

10. Rachel | February 12, 2013 at 05:53 PM EST

When I consider that genetics doesn't completely determine phenotypic outcome, but really just shifts the probability of that outcome, which is also based on other factors like environment and chance, I would definitely want to know if I had an increased risk of getting Alzheimer's. As others have mentioned, with this knowledge steps can be taken to modify life style choices and environmental factors in helpful ways. I agree with Haval's comment that the ethical issues that might arise between health insurers and employers with this sort of information have not been put to the test, and here is where I believe the biggest problems will arise as genetic testing becomes more prevalent.

11. Angela Smith | February 12, 2013 at 06:01 PM EST

I wouldn't want to know that information. I know there's nothing I can do to prevent the disease. If my kids wanted to know then they could get the test themselves. Alzheimer's develops later in life anyway and at that point there are a lot of problems you could have. I hope by that point I will have lived a life that I am proud of and I don't want the knowledge of potently developing Alzheimer's to dampen my good days. As far as insurance goes, I definitely would not want them to know. Even with the laws I still would prefer them not to find out my risk, because if it was high they might try and find a loophole in the law to drop my insurance or raise the rates and I really would not want to end up in a legal battle. It would be much easier for them not to ever find out.

12. Zachary Holbrock | February 12, 2013 at 06:14 PM EST

I would prefer to know the results because the information from the test is important for not just me but my future kids as well. This information would also allow me to seek changes in my life in order to give myself the best healthy life as possible. I would be paranoid knowing that such critical information could be tested, and that it may provide me with insight as to not only my own future but more importantly my kids. Also by knowing it would provide my family time to cope with what Alzheimer's entails. In my opinion, I would be devastated if one of my family members began to show signs of the disease without me having any knowledge that they were at risk for the potential of Alzheimer's.

13. Emily | February 12, 2013 at 08:38 PM EST

I would not want to know if i were at rist for Alzheimer's Disease. Seeing as how this disease is based only on genetics and cannot be prevented, I wouldn't be able to stop it from occurring. I would spend most of my life in concern and worrying. I would feel the same way for my family members. Having that extra bit of information about me or another family member would make me paranoid and worry about when the disease would take over my body.

14. Michaela | February 12, 2013 at 09:16 PM EST

Like many others who have posted, I would also like to know if I was at an increased risk for Alzheimer's Disease. I realize that this information cannot be changed but I would still like to know so that this news was brought on to my family \"out of the blue.\" By knowing ahead of time, I could possibly set up caretakers and future plans if I did eventually develop the disease. It would just give me peace of mind to know that I could be fully prepared before the disease took over. I also think that my family would also appreciate the advanced notice.

15. Diana Ivanković | February 13, 2013 at 02:23 PM EST

I respect all of your opinions about wanting/not wanting to know about your increased risks of being one day diagnosed with Alzheimer's. Please keep in mind that we are not talking about a definite diagnosis, therefore we should not be as concerned as some of you are mentioning. I would like to know that I have an approximately doubled risk of getting this disease, especially because there are drugs that can slow down the degenerative process that I would like for my family to put me on in case I started showing symptoms of the disease. Science and research are making huge steps of progress towards a cure for Alzheimer's.Would your opinion change if you knew there was a drug coming up on the market in the near future? Isn't it better to organize and plan your life, to sign up for the appropriate health care plans of choice to ensure that you can one day afford to be taken care of? It Is always good to plan ahead.Usually younger generations do not like to plan for the last decades of their lives. We all age, unfortunately.Please watch the movie \"The Notebook\"and you might appreciate knowing and planning in case you indeed do get diagnosed with the disease.

16. Maria | February 13, 2013 at 02:46 PM EST

I would like to know if I had an increased risk for Alzheimer's Disease, or any disease for that matter. Even though you can't change the information, knowing it before the onset of the disease can give you and your family time to cope. There are many families out there that have a loved one that is suddenly diagnosed with an incurable disease, this causes a lot of stress and worry in the family. I would want my family to know before this point is reached so that they don't have the sudden stress and fear.

17. Joel Luecke | February 13, 2013 at 05:15 PM EST

I personally would not want to know if I was at an increased risk for a non-preventable disease. Knowing that could cause me have a feeling a hopelessness. I would much rather not know my future health wise. Also, I would give my children the option to know for themselves. Even though I am their parent, it is their body.

18. Andrew Ziegler | February 13, 2013 at 05:19 PM EST

Personally, I would like to be aware of this information. It could provide a piece of mind, though I do not believe that would be my case. Based upon my medical history, I am at increased odds to have inherited Alzheimer's genetic codes. Despite this, I believe the knowledge can prove to be invaluable. I also believe that I will not radically change my lifestyle if such information was presented. As I said, my family has a history of Alzheimer's, but my exposure to the effects of the disease were minimal. So, my experiences with it does not make me fear my genetic information. And if my children were to know early, it might make it easier for them to cope with if symptoms were to eventually present themselves. However, I can understand how this information can be discouraging to many, and how it could complicate health insurance. I am glad there are legal protections to discourage discrimination, but I do not think that solution will truly protect everyone.

19. Natalie Lennartz | February 13, 2013 at 10:56 PM EST

I would like to know if I had an increased risk of Alzheimer's disease. If I knew that I had an increased risk, I would take preventive precautions. Even though I have an increased risk, it's not to say that I won't die of something else first such as heart disease before I even begin showing signs of the Alzheimer's disease. Being paranoid about the possibility of developing disease won't change your outcome of contracting the disease either way. Knowing is only going to allow you to do what you can to prevent the disease. Also, knowing if I was more likely to contract a disease would also allow me to inform my relatives that they also might be at a higher risk. The information about the disease can be as quiet as I want to allow it and GINA protects my rights with insurance companies and employers.

20. Nic T | February 14, 2013 at 04:14 PM EST

I don't think that I would want to know if I had an increased risk of Alzheimer's Disease. From a medical standpoint, it is helpful to have an idea of what you could have a chance of acquiring through life in order to prevent the disease in the first place. However, Alzheimer's Disease is one in which if no one in my family has had before, I would not want to know that I was the one who had a risk of getting it. I don't think its mentally healthy to let the knowledge of your increased risk, dictate how you live your life. As far as having my children know, yes they have the right to do with the information as they wish should I develop the disease, but only in that circumstance. People may think my naive for thinking this way, but I do this because of my own experiences. Both of my parents have heart problems so that's something I consider even now, as a young adult, that I will need to be constantly on the lookout for. So no, if it was my results, I would not want to know my likelihood of developing Alzheimer's Disease.

21. DFK | February 15, 2013 at 09:29 AM EST

I have seen a number of comments about letting the kids know. Also, I see a comment stating (paraphrasing) I will let the kids know if they want to know.

I personally think that I would not let the kids know. As this is relative risk and family history, often is available, I would 'see what happens'. For instance, If my parent(s) developed the disease, I would discuss this with the kids and inform them that a test is available and leave it up to them. As the genetic influence on disease, or drug response (we are getting there) does not change over a person's lifetime, the test can be done at any point and will, without a testing error provide the information. Even if my kids are 99.9% the same as every other person, and more similar to me, if I have an increased risk, that does not mean they will.

22. Ally | February 15, 2013 at 11:51 AM EST

No, I would not want to know if I was at a relatively increased risk for Alzheimer's. Having background knowledge about this disease and family members who have suffered from it, i know its effects. The progression and presentation. Even though drugs such as Exelon and Namenda are now more readily available, they do not cure they disease, only slow its progression. I dont think it would put my children or myself at any advantage to know what is in their future. It would cause more anxiety and greif earlier than necessary.

23. Kasey | February 15, 2013 at 04:38 PM EST

At this point in my life, I would not want to know if I had Alzheimer's. Although there are drugs that slow the progression of the disease, they do not treat it. Therefore, I don't think it's beneficial to know whether or not I would develop the the disease. Knowing would just make me anxious and probably depressed about the future. I would not want my kids to know either for the same reason.

24. Austin | February 18, 2013 at 05:30 PM EST

I would not want to know this information, as I would live in constant fear of the onset of the disease. Also, since this information regards the relative risk, it does not mean that I will actually develop Alzheimer's disease. With that being said, I would just rather not know and go about my daily life. When it came to my children, I would absolutely not tell them, as they would always be looking for signs in me that signal the start of Alzheimer's.

25. Joe Cho | February 19, 2013 at 09:02 PM EST

I would like to know. Alzheimer, Parkinson's, and other geriatric disease are not very preventable. If I know I have an increased risk of getting Alzheimer, I can plan on the future before I start showing the symptoms of Alzeheimer so that I can be prepared better when it happens. While I was learning about the treatment of Alzheimer, I really wanted to know the probability of me having an Alzheimer so that I can plan on what to do when I get old.

Thus, I will plan on the possible future so that none of my family suffers later due to unplanned Alzheimer progress.

26. Kevin Hill | February 19, 2013 at 09:04 PM EST

Personally, I would like to know but as an attorney I am interested if such information might change the legal planning an estate attorney might give a family. Legal plans are especially vital for a person

facing any kind of dementia. The earlier plans can be made, the more the person facing it can contribute to legal plans about his or her care. Guardianship, powers of attorney, trusts and other legal devices can be set up long before the onset of dementia and modeled on the wishes of the individual.

27. Hope Conrad | February 26, 2013 at 04:26 AM EST

Personally, I would like to know whether or not I had Alzheimer's. Disregarding the disease will not make it go away, while accepting the diagnosis can add years and quality to your life by providing access to early treatment. Drugs can put off the effects of this disease as long as possible. Knowledge can also help family cope as well as promote acceptance on your part. In order to buy these drugs, it is obvious that your healthcare provider could easily see that you have this disease. Although I have not looked into GINA, I firmly agree that insurance should not alter policy in any way in regards to the knowledge of this disease.

28. Julia D | February 26, 2013 at 01:28 PM EST

I would want to know if I had an increased risk of developing Alzheimer's Disease. If I knew ahead of time that I was at risk, I would have time to do research on the effects of Alzheimer's and be able to better prepare myself. I could be looking out for the sings and symptoms so that, if I did develop Alzheimer's, I could hopefully catch it in its early stage and try to stop it from progressing as fast. I know that there isn't a cure for Alzheimer's Disease, but there is a drug that can help slow down the progression and give a person more time. I would also want my family to know, so that they could help watch out for the signs and also be prepared for if they should ever develop Alzheimer's. Being at risk doesn't mean that you will develop Alzheimer's disease, just that you are more likely to. Just knowing that you are at risk could help you better prepare.

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