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!
If this was my gene profile, I would not be too concerned with most of the risks stated on the chart. The only risk that I believe to be concerning is the 2.2 risk of Exfoliation Glaucoma. The fact that JES is 2.90X as likely to have this disease than the average human's risk, suggests that precautions should be taken early in life in order to help prevent the development of this disease in the future.
I wouldn't be too concerned about any of these diseases. Even though he is more likely to get many of these diseases than the average person, the percentages are still very low and not at a concerning level. However, it would not hurt make a few life style changes just as precaustions to help prevent the development of any of these diseases.
If this were my profile I would research the various diseases to see steps that I can take in order to help prevent them. I would not be too concerned with the elevated risk from the average since they are still low, but would not just forget these results altogether. It would also not hurt to be active in the process of seeking precautionary measures even with such low percentages because health should not just be valued by our present state but also future risks that may not be evident right at this moment.
Firstly, I tend to be a little dramatic so because his numbers were above average, I would be concerned. I think that things like psoriasis wouldn't concern me as much as glaucoma or cancer. I think using this information I would do more to look for early signs of cancer to be prophylactic by making appropriate appointments with physicians (ex. having my vision checked) so that I could try and prevent the likeliness of getting the disease. The main reason that I personally would probably never do a study like this is because I wouldn't want the knowledge that I could become ill to reduce my quality of life.
I wouldn't worry if this was my profile. All the percentages were pretty low and percentages and don't seem worth worrying about. I know that there will be the unlucky people who get the disease anyway; even if I had a reduced risk it could still happen. The way I would view it is if it's going to happen then it will and if not awesome. If the percentages had been really high though, I'd probably worry and regret knowing.
Although JES's risk is above average for all of the diseases mentioned, I do not think it is something he needs to be too concerned about. His highest risk is for the glaucoma, so if anything this is the one he should be a little worried about. For the others, a few simple lifestyle modifications wouldn't hurt as preventative measures but nothing drastic needs to occur.
Even though JES's risk higher than the average for these diseases, I would not be completely worried, as this is just a study of relative risk. Because of this, his risk is just higher than the average person, so I do not find any of these numbers alarming. Just because he is at a higher risk to get these diseases does not mean that he will get the disease. These results do provide JES with information regarding lifestyle changes he may want to make to help lower the chance that he develops one of the diseases. Overall, I would not be too worried.
If this was my disease profile, I would find more information about each of the diseases. I would be concerned about the cancerous diseases. The risks are not that high but since there is a probability that it could occur, it is best to be informed about them. I would also look into what the symptoms for each of the diseases are. It is best to take steps early. Also, I would note that two of the diseases have a linkage to the skin. I would take better care of my skin and moisturize.
If I was JES my biggest concern would be ESCC and stomach cancer. These are the two most dangerous diseases, and even though the chances are slim it is still possible to develop either one or both. So losing weight, exercising and avoiding all types of tobacco and alcohol will reduce his risk even more.
Looking at the chart, none of the relative risks seem all that concerning. The only one that catches my eye is the exfoliated glaucoma, and even that is only 2.90x. The risks do not appear very concerning due to the way they presented the data on the chart. Should these risks be concerning?
If this were my disease profile I wouldn't be too concerned. The only one that is somewhat alarming is the exfoliated glaucoma, but even that still isn't a great enough risk to be really concerned about it. With some simple lifestyle modifications he can decrease his risk for most of these diseases.
The first thing I noticed about this results chart was the four stars. They are very misleading in my opinion because they are basically assuring 100 percent confidence in the result. All that's really needed to have four stars though is two larger studies; these don't assure me with any confidence.
If these were my results, I would not be concerned about any of the diseases listed. Even though some of the results seem a little higher, they still are not far from the average person's predicted relative risk. I would, however, make some lifestyle changes to make sure I could have done something to counteract my heightened genetic risk a little.
All the disease listed above are hard to treat and many of them are unknown what is exactly causing it. With that being said, there is nothing much JES can do about it. And the severity of the disease is not listed that it also could include the most minor cases of all.
If I were JES, I would just wait and see if any of those happens and if it happens I will seek for treatment as soon as possible. Or I might get more cautious when I notice the difference that could be an early symptoms of above diseases.
If these were my results I would probably not be too alarmed. The only result that might raise some alarm for me would be the Exfoliation Glaucoma, even though the risk itself is not substantially high. Also, it is important to keep in mind that these risks are all relative. The only precautions that I would take regarding these results would be to research each disease to see if they occur later in life or perhaps if they have any preventative strategies.
At first look, I was a little alarmed that all of his readings were above the average risk percentage. However, when looking a second time, I realized that these numbers were not that much higher and that these are assumed to be rough estimates. Also, an important point to notice, that others also mentioned, is the number of trials that were actually done to support these percentages. The other though I had while reading over this chart was just how vague it really was. Most individuals would have to conduct their own research on what some of these conditions even include. The website could have easily included a brief description within the results given.
Looking at what this really means from just the data, his risks are higher than average based on DNA alone. But, most of the chance percentages are pretty low, so they are not complete life changes. The only bit of concern is to notice that JES may want to live a relatively healthier lifestyle to lower his risk of contracting these diseases.
These numbers don't seem too big of a concern. It's good to know JES is at a slightly higher risk so he can look out for the conditions, possibly make a few lifestyle changes. Overall,JES seems to be fine, it's not like his chances are ten times greater than the average person. Also, the four star thing threw me off as well. They give the illusion that the site is 100% confident of the data, when in fact they may only have two studies backing them up.
If these results were mine, I would be concerned at first. However, I think it is important to note that they are relative risks not assertions that he will get the disease. In addition, there are steps that can be taken to prevent or slow down the progression of many of these diseases. I would look at these risks and then make slight modifications to my lifestyle to try and prevent future illness.
These results do not seem alarming to me. For the glaucoma, appropriate eye exams are recommended.For rheumatoid arthritis a simple blood work is needed to ensure join health and to prevent joint replacements and deformation. The possibility of stomach cancer is the only one that could possibly worry JES. His gastroenterologist could give him advice on preventitive and early diagnostic measures that need to be taken in case JES does get diagnosed with it one day.
Looking into JES's disease risk information initially it is alarming that all of his numbers are above average. However, I would not be too concerned. The values are relatively low and there is a lot of ways to combat these diseases and take prophyllactic action toward them.