Pharmacogenetics

Last night, our professor Dr. Fineschi sent out an email informing today our class would begin with a presentation from a guest speaker. Unlike for our last guest presentation, we knew very little about the topic and even less about the presenter. Last time we were assigned a pre-lecture reading in order to prepare for the presentation but this time the email is the first we had heard about another guest. Even though I only had the minimal knowledge I was really looking forward to the presentation because I don’t often get to learn about different branches of sciences directly from experts in that field.

For the presentation, we gathered in a lecture hall on the first floor instead of our usual classroom on the third floor. We shared the lecture hall with the students from the Biotechnology course who we will work closely with in this last week for our final project. The purpose of this is to reinforce the lesson that scientists do not operate in a vacuum and that collaboration is necessary between them but more on that later. 

Our lecture room

Today’s guest speaker was Dr. Peter H. O’Donnell, an assistant professor in the department of medicine at UChicago. He gave a presentation on Pharmacogenetics (PGx), the study of the effect of genetic variation on reactions to different drugs. He covered that drug reactions are the 5th leading cause of in-hospital death in the U.S. caused by the poor prescription drug choices. These poor choices are made due to the lack of information about each patients genetics and how their body reacts to different drugs. 

To learn more in-depth about how these variants change the effectiveness of drugs, Dr. O’Donnell presented us with different cases in which a genetic variant causes a drug to become harmful to the patient. He then had us make a decision on what approach we would take in order to lower the risk of harm to the patient. From these examples, we learned that the patient’s genetic test is needed to make the right drug prescription. This left us all with the question if genetic tests help make better-informed decisions why don’t physicians use them?

The main answers Dr. O’Donnell gave to this question was the availability of the tests, delays in results, lack of provider knowledge, and the cost. The first issue is with the availability of the genetic tests. Apparently, many hospitals do not do this testing at their own facility so they have to be sent off to different labs. Another problem is the delay in getting these results. Tests take time to come back and if the patient is in pain we cannot sit and wait around for the test results. Decisions have to be made. Lack of provider knowledge also poses a threat to the effectiveness of these tests. Some doctors went to school before this technology was even being thought of. This leads to them not knowing how to read the results or how to act on them. The cost of testing is also a problem. The issue this presents is who will cover the costs of the test? The patient or the insurance company? 

Overall, the presentation on pharmacogenetics was really interesting to me. Before the lecture, I didn’t even know that was a field of study but know it’s now something I want to know a lot more about. Aside from the material being really fascinating, what made the presentation even better was Dr. O’Donnell. He is by far one of the best presenters I have received lectures from. He made the presentation very engaging since he did not just throw a whole bunch of information at us. He actually had us analyze data and make decisions from it the way an actual physician would. Through this course, I have been exposed to so many great different areas of study and I am happy to have found yet another one I have a great interest in!