The Poster-boy for Pharmacogenomics

Published on: Tuesday, December 15th, 2015 View all Media

I always find it interesting how people choose their career, especially in science. Did a relativethat died from cancer make us want to go into cancer research? Did someone that had a mental illness in the family want to research why the family member had bipolar disease? While I was growing up, I had limitations but it wasn’t until adolescence that I started to notice physical reactions and question things. I drank Pepsi like a fiend growing up and I just thought that it was my heart condition that gave me the palpitations or a combination of my heart and caffeine. But as I started to take more adult over the counter medications, I noticed other effects from medications.

I clearly remember attending prospective weekend at my undergraduate school. I was so excited to get away my family and see what college was like. Right before I went, I got a horrible cold. There was no way I was going to miss prospective weekend, so I took some NyQuil and attended. The NyQuil didn’t make me feel better, it make me feel worse. My heart was really racing and I just thought maybe it just increased cardiac activity. The heart racing worried me because it lasted TWO days.  Soon afterwards, I forgot about the incident because I decided I would never take NyQuil again.

I ended up going to the school where I attended prospective weekend and in my first semester, like most freshmen, got sick and went to the infirmary. I had a terrible cough and a sinus headache so the physician gave me Robitussin-DM. After I took it, I had the SAME response as I did with the NyQuil. I quickly looked at the active ingredients in both NyQuil and Robitussin-DM and saw that both contained dextromethorphan. Okay, great. I know to stay away from that now.

Because of my heart condition, I was very interested in human mutation and went to graduate school for Cell and Molecular Biology where I studied ionizing radiation and human mutational spectra. Fast forward through graduate school, post-doc, and first jobs, I ended up at a pharmacogenomics company. Before starting, I was provided tons of papers to read on pharmacogenomics (“PGx”). It was fascinating. Once again, as most of us do when we start work in a new environment, I got a cold. My boss told me to take some NyQuil. I told him my story and he said, “We need to genotype you”. I was game and I was tested for polymorphisms in CYP2D6. My genotype results was *4/*4 which translated into a poor metabolizer phenotype because the *4 polymorphism led to an inactive enzyme. Well, that explained why I had the adverse event with NyQuil and Robitussion-DM. It wasn’t because of my heart condition, it was because I couldn’t metabolize the active drug, dextromethorphan to the inactive form, dextrorphan. Eventually, other CYP genes do help eliminate the drug, but it takes longer. I also found out that I am a fast metabolizer for caffeine and it affects me much quicker than other people. Again, not the heart, but my genes!

Over the years, I have found many other polymorphisms in other genes. I joke that I have job security because I can be a control for all of our assays.

RTP is currently validating a PGx panel on the Ion Torrent for both clinical services and clinical trials studies. These tests help determine who should be enrolled in clinical trials as well as determine what drugs patients should or should not be prescribed in the clinic. If you would like to know more about the PGx panel on Life Technologies Ion Torrent®, please contact