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Tag: personalized medicine

PGx DNA Test Kits Can Conveniently Predict How We Respond to Certain Drugs – But Do They Always Work and What Are the Limitations?

At-home pharmacogenomic testing, or PGx, is at the forefront of personalized medicine, providing patients with a convenient way to understand how their genes influence their response to medications. This allows pharmacists to determine the right strength of the dose to prescribe to their patients, facilitating the prescription process by making prescription doses more precise. 


In our biology class, we learned that DNAs encode the specific instructions for carrying out DNA synthesis. In the nucleus, DNAs are transcribed into mRNAs, which are then exported from the nucleus to serve as a template for protein synthesis in ribosomes (or “protein factories” as we learned in class). Therefore any variation in DNA segments also would alter the protein that the DNA segment codes for. 


This is the fundamental concept that is necessary for understanding how PGx testing works. PGx testing looks for variation in DNA genes to predict drug response. For example, the presence of a certain genetic variant, a change in the DNA sequence that makes up the genes, is very significant. These variants could be either hereditary and present in virtually every cell of the body, or non-inherited variants that are present in only certain cells. Detection of these genetic variants using PGx testing could thus indicate that the protein it codes for has weaker abilities to break down a certain drug. This would lead to the effect of having a larger amount of the medication in your body and therefore leading to potential harms that could be caused to the body. 


Although convenient, there are also many limitations to these at-home PGx testing kits. One limitation is that most PGx tests do not look for every possible variant of every human gene. This means that PGx results may predict certain responses your body produces for a medication, but not all the side effects. Another limitation is that there is a lack of diversity in the study participants that the PGx tests are based on, placing restrictions on the applicability of PGx test results. This lack of diversity in study trials is not unique to just PGx testing trials, but to many other clinical trials conducted for other medical studies as well across to the US. In the past, studies have shown that this limitation has cost the US billions of dollars due to underrepresentation in clinical research, therefore indicating the significance of increasing diversity in medical trials. 


Despite the limitations, the good news is that due to the widespread accessibility and direct-to-consumer nature of PGx tests, patients can actively manage their health. By having access to their genetic information, patients can make more informed decisions about their healthcare and treatment options. In my opinion, democratization of genetic information is crucial in healthcare as patients are then able to understand how their information are used and allows them to make personalized decisions based on their personal values and circumstances. In addition, it also promotes health literacy as it encourages individuals to learn about genetics, understand the medications they are prescribed, as well as the potential impacts of the medications on their personal health. 


Reflecting on my experiences with healthcare professionals, I realize that as patients, we often lack in-depth knowledge or understanding of the medications we are prescribed  beyond a general sense of their purpose and a brief overview of potential side effects. Therefore I believe that the democratization of genetic information that PGx provides is a significant value that will help many patients working with healthcare professionals as they learn in-depth information about not only their own genetics, but the medications that they are prescribed as well. After reading this article, given the increasing accessibility of at-home pharmacogenomic testing, what are your thoughts on the balance between the benefits that PGx testing provides to patients and the potential challenges associated with limited diversity in the study populations that underpin these genetic tests?


Smart Pills? There’s an App for That!

Credits Tony Buser


Have you ever wished it was easier to communicate with your doctor how your medication was working?  Wouldn’t it be easier for data regarding how your body responds to the medicine to automatically be sent to the doctor’s office?  Well it seems that in the not to distant future, your smart phone will be able to work in pair with a “smart pill,” which contains a biodegradable electronic chip that monitors how your body responds to the medicine, broadcasts the information to your iPhone, which then emails the information to your physician.

This revolutionary idea is currently being explored by Proteus Biomedical and Novartis, as they plan to make patient/doctor relationships more connected through the implementation of smart pills.

One application of smart pills will be glucose meters, which will connect with iPhones to retrieve, archive, and transmit data.  Upon ingestion, these smart pill glucose meters will monitor sugar levels throughout the body and automatically send doctors detailed reports.  This can be especially useful for diabetes patients, as it is extremely important to constantly regulate their blood sugar level.

The possibilities for this new idea are truly endless, and those close to the development process reveal that smart pills will provide detailed information on how individual patients respond to therapy and could help facilitate the rise of an era of personalized medicine.



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