Applications of pharmacogenetics:

Despite significant advances, many scientific, economic, educational, legal, and commercial
barriers impede the translation of these findings into clinical practice.
I will be focusing on 4 examples of different fields in which pharmacogenetics could make a
major impact on.

Psychiatry:
Many psychiatric disorders are generally not caused by just one gene or variant, they are quite
complex, highly polygenic disorders involving numerous genes.

- Example 1 Antidepressants:
There are a lot of genes involved in the analysis of pharmacodynamic response to depression,
being one of the most studied, the gene encoding the serotonin transporter (SCL6A4), a direct target
for most prescribed antidepressants. Studies have shown that patients with different alleles for the
same gene have diverse responses to these kinds of treatments, even being more likely to present side
effects.
The serotonin transporter previously mentioned contains a well characterized
insertion/deletion polymorphism in its promoter that can make the patient develop a higher or lower
phenotypic expression of this transporter.

- Example 2 Alzheimer:
Current Alzheimer treatments work efficiently on only one third of patients and they are
associated with numerous adverse reactions. Pharmacogenetics may assist in explaining how genetic
variability between patients contributes to these responses and in the metabolism of drugs. Two
enzymes which are hoped to help this disease are ACHE and BCHE, which could increase the
concentration of the neurotransmitter in the synaptic space improving, therefore cognitive symptoms
such as memory, attention or emotion.

- Example 3 HIV:
AIDS, which is a consequence of HIV, is a disease that requires a permanent treatment,
formulated with complex medications and narrow possibilities. Even though most pharmacogenetics
findings are still being investigated, most of the progress done involves the study and application of
genetic bases to the resistance and susceptibility to pathogenic viruses.
A genetic biomarker for abacavir hypersensitivity syndrome has been identified and can
prevent potentially life-threatening complications from this human immunodeficiency virus (HIV)
treatment. This is all taking into account that for the case of HIV and most diseases, different
ethnicities present different alleles for the same gene that make pharmacogenetics solutions even more
of a challenge.

- Example 4 Oncology:
The application of pharmacogenetics in oncology is of great significance because of the
narrow therapeutic index of chemotherapeutic drugs and the risk for life-threatening adverse effects.
There is a need to optimize treatment regimens for the individual patient to lead to better clinical
outcomes.
A very interesting study done in China studied and suggested that some polymorphisms can
be detected before treatment, so that they can be used as a tool for evaluating treatment options in
patients with metastatic gastric cancer.
 Cancer varies both phenotypically and genetically, even among patients with identical types
and stages of disease. Pharmacogenetics studies also have their focus on cancer tissue analysis and
how this relates to the identification of molecular features that can determine a cancer before it
reproduces.
Just as an example, for breast cancer the overexpression of the HER2 receptor gene has been
found to correlate with increased tumor formations and poor reaction to chemotherapy.

These are just some examples on the bigger scale, pharmacogenetics could also most
definitely improve more common diseases such as diabetes or cholesterol which would be detected
long before they expressed, and could also enhance organ transplants by knowing and operating on
each patient specifically for what their bodies can tolerate.

Overall, we can state that the problem with modern medicine is the impossibility of finding
treatments that are specific and unique for each person´s disease. Pharmacogenetics is redefining how
disease is diagnosed, classified, and treated. It is the promise that in the future it will be the tool to
identify “the adequate drug, the adequate dosage, for the adequate individual”.
However, there are many barriers that need to be overcome before the full potential of
pharmacogenetics is achieved. Continued research, as well as a deep understanding of genetic
variations will enable a proper and more efficient treatment for everyone.