Pharmacogenomics, personalized medicine

Table of contents

One of the greatest challenges in medicine today is to ensure that all treatments or medications are effective and suitable for any type of patient. This is one of the dreams in the field of healthcare. The aim is to create a ‘personalized’ medicine, completely tailored to the person to whom it is administered. We already know that not all patients react in the same way to a treatment. It can heal all the problems in the organism or, by contract, worsen the problem. The ideal situation would be to be able to know in advance what possible consequences such a treatment or prescription may have. For this reason, work has been underway to find a non-invasive test that can analyze the patient’s genes and detect which drugs may produce adverse or favorable reactions. This is a fusion of 2 research fields that have given rise to a new perspective on drug personalization: pharmacogenomics.

Genes and pharmacogenomics

It is true that parameters such as age, lifestyle and health influence how a body may react to drugs, but so do genes, and in very varied ways:

How the body metabolizes and eliminates drugs. Not all people break down medications in the same way; some may do it very quickly and others may take longer. This does not mean that one person is healthier than another, but it is important to keep this in mind when administering drugs. If drugs are broken down quickly due to rapid metabolism, the amount of drug needed may be greater for the desired effects to be achieved. However, when the drug is metabolized slowly and the amount is the same as in rapid metabolism, it can cause side effects.

The way the body activates the drugs. Sometimes the body has to ‘take care’ of activating drugs. If, given its genetic characteristics, the body activates them quickly, this can cause side effects. If, on the other hand, the body takes a long time to activate them, there may come a time when the amount of medication is not sufficient for the patient to feel the effects.

The likelihood of a patient having an adverse drug reaction. There are certain genes that have the ability to increase the likelihood that a person will have a rare but serious reaction to a drug. With a pharmacogenomic analysis, physicians can know in advance if this gene exists in the patient and prescribe a drug more safely.

Therefore, knowing the genetic make-up of a patient can be of great help in providing the correct treatment that does not cause more risk to the body.

How does pharmacogenomics work?

The primary objective of pharmacogenomics is to be able to generate an individual treatment based on the genetic profile of a specific patient. The genetic polymorphisms found in each patient modify the expression and function of enzymes and proteins involved in the pharmacokinetics and pharmacodynamics of drugs. Therefore, if allelic variants are detected, the pharmacological response can be predicted. Thus, the efficacy and safety of the treatment would be guaranteed.

As we have already mentioned, pharmacogenomics is a very interesting fusion of 2 fields: pharmacology and genomics. But first we have to explain why this new personalized medicine is needed. The human genome, individual to each person, is what makes the organism react in one way or another to a drug. What works well for one person may be harmful for another. If we eliminate this factor, we can treat the patient knowing that there are no risks. How can this be done? By first analyzing how genes react to certain drugs. There is a reason why pharmacogenomics is also known as ‘precision medicine’. After all, it is a completely personalized and very novel analysis.

Although the impact that genetics has on a drug has been known since the 1950s, it has only recently become popular. Advances in technology and knowledge have also greatly helped to make pharmacogenomics an increasingly common reality.

Why is pharmacogenomics useful?

Genes are responsible for managing the production of certain proteins in the body. These may be directly related to the drug treatment administered to the patient for various reasons:

The protein may be related to the breakdown of the drug
It may aid in the absorption or transport of the drug.
It may be the drug target itself.
It is related to the molecular events triggered by the drug.

Thus, when the genomes of several people who are taking the same drug are compared, it is concluded that those with the same genetic variation also share a common response to treatment. Some of these may include:

An increased risk of side effects.
A higher dose is needed to achieve the desired effect.
No benefit is being perceived.
There is a greater or more likely benefit.
The results may reveal the optimal duration of treatment.

When is pharmacogenomics used?

Thanks to all the advances in research, multiple uses of pharmacogenomics have been discovered. Such tests are used to improve the choice and dosage of drugs to treat a wide range of conditions. These include cardiovascular and pulmonary diseases, HIV, cancer, arthritis, high cholesterol and depression.

If we talk about cancer treatments specifically, there are 2 genomes capable of influencing prescribing decisions: the genome of the person with cancer and the genome of the cancerous/somatic (malignant) tumor. As most cancers are related to damaged DNA, that separate genome that is the genetic material of the malignant tumor can give us clues when creating a treatment.

An example of pharmacogenomics application

One use of pharmacogenomic analysis is in thiopurine methyltransferase (TPMT) testing for people who might receive thiopurine drug therapy. These drugs are used to treat some autoimmune (Crohn’s disease, rheumatoid arthritis) and even some cancers (childhood leukemia).

The TPMT enzyme helps to break down thiopurinic drugs. If an organism has a deficiency of TPMT it will not be able to break down the administered medication as quickly as necessary. If the concentration of the drug in the body is too high, side effects such as bone marrow damage (hematopoietic toxicity) can occur.

Genetic testing can detect whether the patient actually suffers from a TPMT deficiency. The treatment can then be adjusted to the conditions the person needs, prescribing lower doses of thiopurinic drugs or using other drugs instead. This creates a completely personalized treatment with less risk of side effects for the patient.

How is a pharmacogenomic test performed?

To carry out a pharmacogenetic test, a saliva sample, a buccal sample from the inside of the cheek (using a swab) or a blood sample is used. This is sent to a laboratory where the necessary tests are performed on the genes that will determine how the body will respond to certain drugs. It is these changes in the genes that indicate whether certain drugs will be appropriate and respond well in the body or, on the contrary, may cause side effects.

Test results are usually available in a few weeks, although depending on the laboratory it may take 1/2 month. You can contact us if you have any questions about the turnaround time of the results.

The assigned physician will be in charge of explaining the pharmacogenomic test analyses. Depending on these, it is possible that the medications already assigned to a patient may be changed in order to improve the treatment and its success. However, no change should be initiated without consulting a physician or without the physician’s approval.

Pharmacogenomic results do not change over time, so once the tests have been performed, the same parameters can be maintained for the rest of the patient’s life. It is possible, however, that due to advances or discoveries in the field of pharmacogenomics the tests may be updated.

Some conclusions

Pharmacogenomics has brought about a revolution in the field of drug prescription, as it is now possible to tailor drugs to the patient in a completely personalized and painless way. All that is needed is a saliva sample, a buccal sample from the inside of the cheek (using a swab) or a blood sample. The genetic components can then be identified and doctors can use this information to choose which drugs are best for that particular patient. This eliminates the risk that some people may run if their genes react differently to medications.

At Ambar Lab, we are proud to be able to offer this type of testing in our laboratory. They represent an incredible advance in being able to offer a treatment that is much better suited to each and every patient suffering from any ailment. Check out our services and meet the team behind the name. We are a group of people ready to meet the needs of our customers and to respond to them with tailor-made and updated solutions.

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