By DFK | January 04, 2013 at 01:25 PM EST |
5 comments
This entry is modified from the original post in January of 2012. It is in reference to our "guest DNA provider", JES.
Why is this blog here? With the responsibility of keeping our students on the forefront of pharmacy education, I felt obligated to present, from a public point of view, where "things" are at with personal genetic information. As I have talked about patients who eliminate drugs from their body slowly (poor metabolizers) versus those who remove drugs rapidly (extensive and ultra rapid metabolizers) in class for years, I felt that this needed to be placed in the context of the "bigger picture". With the advent of direct to consumer (DTC) genetic testing, I saw the opportunity to investigate the "bigger picture".
JES sent his DNA sample (saliva) to arguably the most commercial of the DTC "personal genome" companies so we could delve into his personal genetic information.
Being in pharmacy education, we specifically were looking at this information to see the drug-genetic connections (pharmacogenetic) side of things. We wanted to know how JES "handled" certain drugs. This term, pharmacogenetics was defining what we wanted to know. That is, we wanted to study JES's genetic makeup in order predict how he would respond to certain drugs and to understand how certain drugs should be prescribed for him.
So, we are checking JES's pharmacogenetics, hence this PGxCheck.com blog...but it is much bigger than just drug response. We will learn what disease risk JES has, what disease(s) He may be a carrier of and what his DNA says about physical traits. The bigger picture includes legal issues, such as discrimination, ethics, healthcare, business and broader personal questions. We all need to be thinking about the use of genetic information in this era of easy access to DNA information.
We will start with the traits JES's genetics says he has. Certainly, he knows how he expresses some of the defined traits. It will be interesting to see if JES's expression of the traits, his phenotype, matches what his genetics say he should express as a trait, his genotype.
To get us all at a starting point, click on “About JES” at the left. You will see the trait that was tested by the personal genome company, how JES expresses that trait and we will start looking at the results and enter the results from JES's DNA testing. We will see if they match…and discuss why they may not!
For the students that are following along, I will also send an e-mail when there is a post.
I see that most of the test results match with JES expressed traits. A reason for the mis-matches may be simply an error in the gene analysis, although one could propose that JES may think he is more o a distance runner rather than a sprinter, because many distance runners have never tried serious sprinting training and vise-versa. Also, with tolerance to lactose, there are a variety of levels of lactose intolerance. Most people have some type of intolerance from dairy, this is shown by releasing gas, but they can still handle eating it. Others have a worse intolerance where they cannot consume dairy products without having a reaction that disturbs their everyday life. There are only a few people in this world that are completely tolerant of lactose. My thoughts... What are yours?
It was interesting that the gene can provide such an information.
Some of not matching information could just be that he haven't try the other way.
For example, he might have not try to be a sprinter. He only tried to be a distance runner that he doesn't know he is better at short distance.
And there are various symptoms for lactose intolerance. Personally I am lactose intolerant, but only symptom I get is slight flatulence. I have heard from people that some people can severe diarrhea. If the symptoms mild enough, he just haven't realized that he is lactose intolerant.
I think environmental factors could affect his expressed traits. Most results match with his genetic traits, but some results show difference between genetic and expressed traits. Muscle performances and the lactic intolerance can be affected by his physical activities or exercise habits, and his eating habits.
I totally agree with Jacob. One thing to keep in mind is the fact that lactose intolerance increases with age. Even though JES might not feel intolerant at the moment, he might express the symptoms more as he ages.
In regards to sports,we would need to define whether we are talking abouth the difference between a one miler and a 5k runner , or between a 100 m and a marathon runner.
Two thoughts,
1) When we look at things like PTC or 6-n-propylthiouracil (PROP) for bitter taste perception:
Based on this information, it appears that the relationship between the SNP we investigated and the ability to taste PTC is more correlative than causative. If it were causative, the determination of the genotype would always have lined up with the phenotype, but since this was not the case it is merely correlative.