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!

Resistance to diseases...what would you do?

To continue with more 'trait' information, not provided on the 'About JES' page. There were a number of, what I will call 'disease resistance' traits. Here are the reults for JES:



Malaria resistance - not resistant
Resistance to HIV - not resistant

While JES's results indicate he is not resistant, how do think this kind of information may impact an individual if the results were noted as resistant (to malaria and/or HIV)?

Interestingly JES traveled to Ghana recently. Malaria has a major prevalence in Ghana. JES received all of the prophylactic medicine to help prevent contracting malaria and did not get the disease. If he was resistant should he have approached the prophylactic treatment differently?

Think 'broadly' here. Think about all the different types of people you know. How do you think they would use this resistance data?

30 comments | Add a New Comment
1. Haval | January 24, 2013 at 10:47 AM EST

There are plenty of people who due to recklessness or lack of understanding would consider themselves invulnerable and take dangerous risks if they were indicated to be resistant. Financial incentives play a role as an individual might refuse to receive prophylactic medicine for a disease to which they have resistance.

That being said, I think that a rational, informed individual would continue to follow safe practices to avoid contracting diseases, even if they are resistant. Resistance does not equal immunity, and I certainly wouldn't want to take a risk with Malaria or HIV.

2. Michaela | January 24, 2013 at 11:36 AM EST

If a person's results were noted as resistant, this could greatly impact someone's life. Individuals who are commonly exposed to HIV or malaria would not have to consistently worry about their health. For individuals like me however, this piece of information really wouldn't have a great impact. Although I am not exposed to HIV or malaria, if I were to knowingly put myself at a greater risk, I would take neccessary precautions. If Jess HAD been resistant to malaria, I would have to say that he should still have accepted the prophylactic treatment. Although some people may strongly disagree with me here, I believe that it is better to be safe than sorry. Other portions of his DNA test were not expressed perfectly through his phenotype so what is to say that this resistance reading will be completely true. I just could not put my life in danger by trusting the DNA test 100%. What would be the real harm in accepting the prophylactic treatment anyways?

3. Angela Smith | January 24, 2013 at 12:21 PM EST

I agree that knowing you are resistant to HIV or malaria might give you a false confidence that you could do whatever you want at a much lower risk, but I don't think it would be bad to know. I personally would be very happy if I knew that I had natural resistance to any kind of disease. For personal working in the medical field knowing you had a natural resistance could offer a piece mind that you are at a lower risk of contracting either of these diseases that they might be exposed to. I'm not sure what the risks are of the prophylactic treatments or what the success rates are, but if either of those were a concern if I had natural resistance I would decline the treatment. In addition, knowing if you had a natural resistance to malaria and HIV could be a factor in decisions for mission trips. For example, if someone was considering a mission trip to Africa they might feel better about going if they knew they had resistance to the diseases. Overall, I believe the test is a good and it's up to people how they will use their personal information, but they have a right to know their own genetic traits.

4. Mackenzie | January 24, 2013 at 01:08 PM EST

I agree with Haval in this situation. I know many people who, for example, have never gotten the flu and therefore see no reason to get a flu vaccine. For me, that is something I would not be willing to risk. I think that due to the severity of diseases like malaria and HIV, it is still important to take the necessary precautions to protect oneself. It would be unfortunate to use the DNA result \\\"resistant\\\" in a situation where one is exposed to these diseases and end up contracting one or the other. The symptoms and side effects are far worse than simply taking the extra safety precaution to be vaccinated, in my opinion. Ultimately, it is up to the individual him/herself to make that informed decision.

5. Joshua S | January 24, 2013 at 01:17 PM EST

Being resistant in terms that I know is not absolute. So, somebody with a resistant trait to malaria may not necessarily be completely resistant; they may just be less susseptable to contracting the disease. Overall, somebody with a resistant trait will more likely be able to not take precautions if precautions are an inconvenience, and still come away from an environment like Ghana without contracting malaria. Even is JES was resistant to malaria according to his classified trait, he probably should still take the same precautions to avoid sickness. There are many instances of when people whom usually do not get sick of something, that do at one point in their lifetime even when they are exposed to a sickness everyday. I'm not sure if that is due to genetic traits or not, but it's something to pay attention to.

6. Maria | January 24, 2013 at 03:11 PM EST

As some of the other had already sid, being resistant doesn't mean that you will not contract said disease. People still need to take the proper precautions in preventing contraction of diseases as if they weren't resistant. If I knew that I had some resistance to a disease, I would still get my proper vaccinations and what not. These days, some diseases are evolving into higher strains which would then make a resistance irrelevant. In my opinion, it is better to be safe than sorry.

7. Zachary Holbrock | January 24, 2013 at 03:14 PM EST

I believe that many people would use the \"resistance\" idea as an excuse to not get a certain vaccination. Many people do not want to take time out of their lives to go out of their way to get a vaccination such as the flu shot. However, nonresistance to diseases such as HIV and malaria cause concern among many, and therefore are treated more seriously. Many people who are planning to travel to countries with a high risk for malaria may look into prevention methods before going there. I would still take the precautions that were necessary even if I were tested to be resistant to certain diseases such as malaria because its always better to be too careful that not at all.

8. Emily | January 24, 2013 at 03:22 PM EST

I agree with what others are saying. Just because a person may be resistant doesn't mean that person is completely immune. I think that even if a person is resistant, he/she should still be defensive and take proper medication.

9. Sara | January 24, 2013 at 03:25 PM EST

Resistance does not equate to complete immunity. Other portions of JES's DNA was not expressed as predicted, so why would that make his resistance 100% true. If it were me in the situation and I knew I was resistant to these diseases, I would get the precautionary medicine anyway. I do not want to take a risk in getting a disease if I can help it, especially with these two life threatening ones. However, the decision is ultimately up to the individual and his/her beliefs.

10. Andrew Ziegler | January 24, 2013 at 03:37 PM EST

As stated by several people already, resistance is not equivocal to immunity. I believe that people that are malaria resistant should still take the proper prophylactic precautions, for potential side-effects to such drugs (i.e., Chloroquine, Mefloquine, Malarone, and Doxycycline) do not appear too severe. When available, one should continuously attempt to reduce the risks of contracting diseases. However, this genetic information is not useless; if the drugs presented greater risks or other factors, such as cost or availability, were influential, then it might be wise to suggest an alternate course of treatment (perhaps the cheaper drug or lower doses?) And I agree that many people will misunderstand what resistance means and will consider themselves invulnerable. However, I still believe that this information can be advantageous to know.

Some information obtained from: http://www.cumc.columbia.edu/student/health/pdf/T-Z/Malaria%20medications1.pdf

11. Natalie Lennartz | January 24, 2013 at 03:40 PM EST

I strongly agree with Haval. Some people seeing that they are resistant may be careless when it comes to receiving vaccines. People who are resistant to such diseases would probably double-think about receiving a vaccine especially if the vaccine is costly or an inconvenience to the patient. However, I do not believe that being resistant should stop a patient from receiving the appropriate vaccine especially if they know they will be exposed to it, such as JES's situation. Being resistant to things such as HIV or malaria doesn't mean you have the inability to contract the disease. For example, receiving the flu vaccine makes you \"resistant\" to receiving the flu; however, as Mackenzie pointed out, it doesn't guarantee a patient that they won't get the flu. A person listed as resistant to a disease should take the same precautions as for a nonresistant patient.

12. Rachel | January 24, 2013 at 04:08 PM EST

Based on many of the comments posted, it seems critical to me that if genetic testing is going to be used on a large scale, it is critical that the results are accompanied by adequate information/counseling on how to interpret the results. If , for example, people wrongly assume that resistance equals immunity to HIV, and a resulting rise in HIV ensues, then the 'preventative medicine' feature of genetic testing is lost. I believe genetic testing can offer many the incentive to make smarter decisions regarding their health, but again, only if they are well informed.

13. Nic | January 24, 2013 at 04:08 PM EST

It would be interesting to consider how some members of my family would respond to the knowledge that they were resistant to a particular disease. In my opinion, I would bet that if my aunts who smoke on a regular basis were told that they were resistant to lung cancer, would probably go out and buy 4 or 5 cartons. Most likely in the thought that their addiction couldn't \"hurt\" them. Then you would have my cousins who had been raised in the knowledge that smoking could kill. I believe that they would still be far less likely to pick up the habit even with this new information. Ultimately, I feel as if people who take risks would engage in riskier behavior if they had this sort of information.

14. Ashley | January 24, 2013 at 04:09 PM EST

I agree that some people may translate \"resistant\" to \"not required to get the vaccine\". As others have stated before, not getting the vaccine would be too much of a risk, whether a person is considered to be resistant or not. However, for people that are reluctant to receive any vaccines, a DNA test result of \"not resistant\" may be enough to change a person's mind about whether or not they receive that particular vaccine.

15. Jessica | January 24, 2013 at 04:14 PM EST

As stated by the others, I believe that you should take precautions whether or not you are indicated to be resistant or non-resistant. If you are resistant and are then exposed to a disease, while you may not contract it, you could put others in danger.

16. Anh Dao | January 24, 2013 at 05:50 PM EST

As others have mentioned, I also think JES would have been more relaxed about getting the prophylactic prophylactic medicine. People tend to try to find an excuse not to get medical help unless it is dire. Also there is the notion of, \"Oh, there is nothing wrong with me, why should I be treated?\". Some people do not like to have a lot of medications in their system because of potential side effects. They are afraid that the side effects will cause them more trouble than the disease itself so if the disease is not present yet, they would probably be more swayed towards not getting the vaccination. From a financial perspective, the resistance data could also be used by insurance companies. They could see that he is less susceptible to contracting HIV and malaria, making him less susceptible to contracting other diseases. If one was to have HIV, their immune system would be extremely weak and health insurance would intensely rise.

17. Andrew | January 24, 2013 at 07:26 PM EST

In my opinion he did the right thing. It is always better to be safe than sorry. Most people i know would still get the vaccine just to be safe.

18. Austin | January 25, 2013 at 10:44 AM EST

I find it interesting that these traits even exist! I was not aware we had such traits. Even if JES were resistant to malaria, I think he may still have wanted to get the medications, as you would rather know that you will not get malaria for sure, instead of running the risk that you may contract it later. My question is whether or not having these resistant genes to HIV and malaria actually make you 100% resistant to these diseases. Can you actually still contract these diseases if you have the resistant genes?

19. Ally | January 25, 2013 at 03:20 PM EST

Many people think they are not susceptible to disease or even common cold or the flu. This kind of thinking impacts their judgement to make good decisions about health care. People I know who are 22 years old who think just because they have never had the flu, they should not have have to be vaccinated. Even if JES was resistant I think that prophylactic medicine would not be necessary against the HIV or malaria. I think this because if he was treated prophylactially there could be a chance of a new strain developing, making it harder to treat.

20. davekisor | January 25, 2013 at 03:57 PM EST

The summary report page for the gentic information for JES states:

-Malaria Resistance (Duffy Antigen):not resistant. If someone has the following results (as stated above): -Malaria Resistance (Duffy Antigen): resistant-, and that is as far as they go, they might get the wrong impression, although everyone here 'gets it'. Really here, the test is looking to see if someone has the 'Duffey antigen' a protein on red blood cells that is needed by Plasmodium vivax, which is one form (species) of parasite causing malria. Plasmodium falciparum and Plasmodium vivax are the most common and the former is the most deadliest (source: World Health Organization). As they say 'a little knowledge can be dangerous'!

21. Joel Luecke | January 26, 2013 at 01:59 PM EST

So in order for a person to be resistant to malaria they lack the duffey antigen? Now does the Duffey anitgen have any relation to the blood disease Sickle cell anemia? Because I know that people will Sickle cell have an increased resistance to the malaria parasite.

22. Julia | January 26, 2013 at 02:42 PM EST

Telling an individual that he or she would be resistant to a disease based on their genotype could have dire consequences. That individual could make reckless decisions, such as not getting vaccinated for certain diseases or taking the specified medicine. This could be because they feel that there is no chance to get the disease and that they are \"safe\". They could also feel that not taking the medicine that they might not even need could save them money, especially if they are facing financial hardships. Just because someone is likely to be resistant does not mean that they are not capable of contracting a disease. Testing is not always correct and it is always better to play it safe and get the medicine rather than taking a chance and contracting a possibly fatal disease.

23. Won Park | January 26, 2013 at 09:21 PM EST

I think the result \" resistant to certain disease\" can be helpful to decide whether he necessarily should take the vaccination because the result says that he is not likely to have the disease in his life time. However, as many students mentioned before, his genotype that indicates the resistance doesn't mean he doesn't need to protect himself from the disease. Although he is less likely to have the disease than other people, he should prevent him from taking the disease through vaccination.

24. Sandra | January 27, 2013 at 03:50 PM EST

I believe that JES made the right decision in taking the prophylactic medicine in order to prevent contracting malaria. This medicine was not going to hurt the patient, and ultimately just gave JES more protection versus this disease.

25. Joe | January 28, 2013 at 10:24 PM EST

I feel like I don't need to post this comment since everyone already touched all the information I wanted to discuss about.

However, I would like to address that there are differnet types of malaria and HIV. Thus, complete resistant is highly unlikely.

Furthermore, there are prophylactic treatment for malaria, then why do we take the risk?

Even if I somehow came out to be \"resistant\" to HIV, I would still protect myself in all possible way from getting HIV since currently there is no cure available.

In case of other bacterial infections, that we can be \"immuned\", I would assume that \"resistant\" status will give some positive assurance to the people.

26. Kimberly | January 29, 2013 at 12:05 PM EST

Even if he was resistant to malaria or HIV, he may still use prophylactic devices. Obviously, HIV can cause death and when it comes to that serious of a disease, everyone should take as much possible precaution as possible. Malaria is also a very serious disease and treating malaria before it happens is much easier than treating it after the fact. Being resistant to something and being immune to something is completely different. It's important that if someone is HIV resistant that they don't have a false assurance that they will never get the disease.

27. Kevin | January 29, 2013 at 10:36 PM EST

As everyone has pointed out, resistance does not equal immunity. My question has to do with balancing the risk of medication with the risk posed by the disease. If someone is genetically resistant to a particular form of malaria, how should that effect their decision to take an antimalaria medication like mefloquine (lariam)--which I understand has severe side effects? The risk/benefit calculation is changed by that knowledge. From an ethical point of view, how does a medical professional advise someone knowing the risks of mefloquine and the individual's supposed genetic resistance? Finally, if someone has a resistance to malaria but also has genetic indications of susceptibility to psychiatric illnesses should a medical professional advise the individual to not take mefloquine--which has been associated with psychotic episodes. (On a personal note, when I was traveling in New Guinea and was taking lariam regularly, I had intense, colorful almost hallucinogenic dreams but no psychotic episodes...that I remember.)

28. Leah | January 30, 2013 at 03:34 PM EST

Resistance does not mean immunity. So even though you have a resistance to a certain diseases you should still take as many precautions as possible to prevent contraction. That is what I would do personally until someone told me that I was 100% immune, if that is even possible.

29. Diana Ivankovic | February 03, 2013 at 12:15 AM EST

In my opinion, it depends what disease you have been tested and determined to be resistant to. In the case of HIV and malaria, there is no question that the \"resistance\" status is giving a false assurance to the patient and that they should always take all the precautionary measures not to contract these diseases. In the case of other, non lethal viral, bacterial or parasitic infections, the \"resistant\" status could possibly be taken advantage of, as long as the patients are clear and educated about the risks that they are taking.

I have recently returned from the Peruvian Amazon, from an area clear from malaria. I took the risk of not taking the prophylactic treatment, but in a way I felt a bit as if I was playing the Russian roulette. It is always better to be safe than sorry, especially if there are life threatening diseases at stake. The \"resistance\" status should be used, in my opinion, for diseases that will not possibly cause death or a debilitating future for patients.

30. Hope Conrad | February 26, 2013 at 04:34 AM EST

Agreeing with many of the comments above, I believe that knowing you have resistance should not be an excuse to risk a lethal disease. Precautions should be taken, regardless of resistance. Even though it is unlikely that a person with resistance could get a respective disease, it is not impossible.

Add a New Comment

(Enter the numbers shown in the above image)