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Pharmacogenomics: Right Drug, Right Patient, Right Dose

By Gustavo Rodríguez Leal - nutriADN
CEO

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By Gustavo Rodríguez | CEO & founder - Tue, 09/06/2022 - 15:00

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Pharmacogenomics can tell us which treatment will deliver positive results and which might have no effect or even spark an adverse reaction that could aggravate the patient's health. After the human genome was deciphered, advances in medicine exploded, all thanks to the valuable information that we can find in our genetic code and to which we had not been able to access but which was there all along.

Now we are able to find the causes of diseases that seemed to appear without explanation. Through the use of molecular analysis tools, we can access a large amount of information and by knowing how to interpret it, we can learn valuable data about ourselves. Advances have gone beyond understanding the origin of diseases to designing the best treatment. Knowing our body's response to different medications makes it possible to avoid adverse effects from the treatment. We also know which drug and dose will lead to the best results from a treatment. All this without having to go through the phase of trial and error.

Being able to determine the ideal treatment for a disease may sound almost magical but we owe it all to years of work in genetic and genomic research that has allowed us to access the information found in our genetic code.

What is Pharmacogenomics?

Pharmacogenomics, also known as PGx, aims to study the genetic variants in an individual that could affect the way they react to certain drugs. For a long time, specifically in the year 1892, important doctors highlighted that no two patients are the same and the treatment that worked for one did not work for another (Quiñones et al., 2017). It was even said that medicine was actually an art instead of a science because of the differences between patients, meaning that traditional medicine could be seen as an act of divination.

However, with the appearance of genomics and, later, pharmacogenomics, it is possible to avoid this phase of trial and error in medical treatments, since it is estimated that 60 percent of the differences in response to drugs are due to the genetic variability. 

The usefulness of the results of a pharmacogenomic test are very varied, since they include diseases such as cancer, depression, cardiovascular diseases, metabolism disorders (such as diabetes) and mental and neurological disorders (Rodriguez Duque & Miguel Soca, 2020).

Do You Know How a Drug Is Developed?

Developing a drug is a very long process that can start because a researcher found a compound that can be useful against some disease. The first thing that is done is a study of this compound: the properties it possesses, its structure, functions and mechanism of action. Most important is the verification that it is safe for human consumption. Once the above is known, it is possible to carry out tests in humans, where the adverse effects that could occur will be evaluated and, on many occasions, of greater importance is the percentage of people in whom the treatment was efficient.

This means that one of the requirements for a drug to be approved is that it be effective in a large part of the population and that the probability of presenting an adverse effect is low, making it safer for doctors to prescribe the drug, that they have the desired effect and avoid harmful outcomes. To put it another way, we can view medications as “one size fits all,” designed with the purpose of “fitting” everyone, even though everyone knows this is not the case.

This is where pharmacogenomics comes in because it's all in the genes. Through a drug response test, doctors will be able to know exactly which drugs and what dosages work best for each individual, without worrying that there might be a detrimental effect. Instead, a positive advance in treatment actually occurs.

Types of Metabolizers for Drug Response

Certain enzymes are responsible for transforming drugs into substances capable of curing our diseases and then being able to eliminate them from the body. This action is known as drug metabolism or biotransformation. 

The results of a pharmacogenomic test can be classified as follows (Pierna Álvarez et al., 2018):

  1. Poor or poor metabolizer: patients with this variant have very little or no enzyme activity, so they will need higher doses or another drug. At least 10 percent of the population belongs to this classification.

  2. Intermediate metabolizer: patients belonging to this group have a variant that reduces the metabolism of the drug and requires the prescription of a higher dose.

  3. Normal Metabolizer: These people have enzymes that work normally or as expected, or at least 78 percent of people.

  4. Rapid metabolizer: patients with this variation transform drugs quickly and need higher doses.

  5. Ultra-rapid metabolizer: in these people, the enzymatic activity is very high, so they need higher doses or other medications that really work. It is estimated that at least 2 percent of the population are ultrarapid metabolizers.

Personalized Medicine Is Now Available for All

This type of medicine is oriented to the development of medical treatments adapted to the specific needs and characteristics of each individual, since we are all different from each other; despite the fact that we are 99 percent identical, the remaining 1 percent is capable of creating great variability in genetics, which corresponds to the characteristic differences of each population, while also impacting types of care, prevention, diagnosis, treatment and, finally, response.

It is due to the above that new tools are needed in the health area that are capable of making a difference with respect to the traditional prescriptions that are still used today, which are sometimes based on trial and error, and that allow the implementation of more efficient treatments with a low probability of presenting adverse reactions. The benefits include the immediate treatment of diseases and a reduction in health costs. One of these tools is pharmacogenetic testing, which in the future could become essential for health professionals.

How can we start using Pharmagenomics tests?

The objective of pharmacogenomics is to design a personalized treatment based on the genetics of each patient, assuaging doubts about a treatment’s efficacy and making treatments safer, since it is possible to detect who will present adverse effects.

At nutriADN functional medicine clinics, we are introducing to health professionals and patients a new possibility to avoid trial and error, adverse reactions and high medical expenses due to conventional drug recommendations. We have developed PharmaTest, which provides health professionals with more information regarding their patients’ response to a drug so they can individualize the treatment, providing the right dosage and right drug according to the patient’s genetic profile. 

The benefits to highlight from the use of a pharmacogenomic test in consultations are the reduction of the time needed to start treatment of a disease by eliminating the waiting time for the observation of changes in the patients, minimizing the probability of adverse effects and a reduction in health costs by being able to treat the disease from the first moment.

 

References

Pierna Álvarez, M., Marcos-Vadillo, E., García-Berrocal, B., & Isidoro-García, M. (2018). Pharmacogenomics: personalized medicine. Journal of the Clinical Laboratory.doi:10.1016/j.labcli.2018.07.

Quiñones, L., Roco, Á., Cayún, J. P., Escalante, P., Miranda, C., Varela, N., Meneses, F., Gallegos, B., Zaruma-Torres, F., & Lares-Asseff , I. (2017). Pharmacogenomics as a fundamental tool for personalized medicine: applications in clinical practice. Medical Journal of Chile, 145(4), 483–500.doi:10.4067/s0034-98872017000400009

Rodriguez Duque, R., & Miguel Soca, P.E. (2020). Pharmacogenomics: principles and applications in medical practice. Havana Journal of Medical Sciences, 19(6).

Smith Marsh, D.E. (2018). Adverse drug reactions. University of Illinois at Chicago College of Pharmacy.

Photo by:   Gustavo Rodríguez Leal

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