2023-08-14 04:40:00
Department of Clinical Pharmacology Hospital Universitario de la Princesa
Monica Morales
14/08/2023 06:40
Pharmacogenomics is the study of how genes affect a person’s response to different medications. Thanks to advances in genomics and medical research, this specialty has become a key piece that allows doctors to have a complete picture of a patient’s treatment, as explained in the Mayo Clinic.
A drug that is effective and safe for one person may not be for another due to genetic differences. In this context, pharmacogenetic tests aim to provide valuable information to optimize treatment and reduce unwanted side effects. In addition, these tests serve to have more information about health in general, so there are healthy people who also request them.
This revolutionary area of medicine is transforming the way healthcare professionals approach disease treatment and prevention, offering significant benefits to both patients and physicians. To learn more about these tests and how they are used today, OKSALUD interviews the Dr. Francisco Abad Santosdoctor of the Clinical Pharmacology Service of the University Hospital of the Princess (Madrid) and professor of the Department of Pharmacology Faculty of Medicine Autonomous University of Madrid.
ASK. – Could you explain what pharmacogenetics is and how it relates to predisposition to disease?
ANSWER. – Pharmacogenetics is the scientific discipline that deals with the study of genetic aspects related to the variability in the response to drugs, both in terms of efficacy and safety. It is not intended to predict the risk of suffering from a disease, but rather to find the most appropriate drug to treat the disease that each specific patient presents. However, pharmacogenetics can predict the risk of presenting adverse drug reactions that in some cases can be serious.
Q.- How do pharmacogenetic tests work to determine predisposition to diseases? Is a blood test enough?
R.- Most of the pharmacogenetic biomarkers are analyzed in the DNA that all our cells have and that can be obtained from a blood or saliva sample. These biomarkers are usually genetic polymorphisms, that is, variations in DNA that make some people different from others in terms of hair color, eye color or response to drugs. These biomarkers remain unchanged throughout life.
Other pharmacogenetic biomarkers are analyzed in tumor biopsies to select the most appropriate treatment for the cancer that the patient presents at a specific moment. These biomarkers can change throughout the course of the disease, so over time it may be necessary to repeat the analysis.
Q.- What kind of diseases can be detected through pharmacogenetic tests?
R.- Pharmacogenetics makes it possible to evaluate the predisposition to present an adverse reaction to a drug, for example, Stevens-Johnson syndrome or toxic epidermal necrolysis, which are serious skin diseases caused by hypersensitivity reactions related to drugs used for the treatment of patients with HIV as abacavir, or drugs used in gout such as allopurinol, or antiepileptic drugs such as carbamazepine or phenytoin. To assess the predisposition to suffer from other diseases, such as cystic fibrosis or Huntington’s chorea, genetics is used.
Q.- How can these tests help in the development of specialized treatments?
R.- At the research level, pharmacogenomic analyzes can be carried out which, in addition to DNA analysis, also include RNA, protein and metabolite analysis, with which the mechanisms by which diseases are produced can be discovered, which makes it possible to identify new therapeutic targets. on which to develop new drugs that are more effective and safe.
Q.- What role does pharmacogenetics play in personalized medicine? Have there been recent advances?
R.- The objective of pharmacogenetics is to achieve an individualized medicine, in such a way that each patient is administered the most effective drug, with the least risk of adverse effects and from the first moment.
In recent years there have been great advances in pharmacogenetic biomarkers, mainly in the field of oncology, which makes it possible to select the most appropriate treatment for some types of tumors. But there are also biomarkers that make it possible to avoid the risk of serious adverse reactions, for example, in patients who are going to receive azathioprine for the treatment of autoimmune diseases, or fluorouracil or capecitabine in the treatment of colon or breast cancer.
Q.- What are the current challenges in the field of pharmacogenetics and how are they being addressed?
R.- Although there are already many biomarkers that have been associated with drug response, they have not yet been implemented in daily clinical practice in all centers. Recently, the Ministry of Health has included several pharmacogenetic biomarkers in the Basic Portfolio of Services of the National Health System, and now the challenge is to make these tests available to all patients who need them in any center in our country. For this, each Autonomous Community is organizing a system that allows analytical determinations in reference centers. From the Clinical Pharmacology Services of the hospitals we are prepared to provide reports of recommendations for the choice of treatment or dose adjustment, according to the pharmacogenetic results, also taking into account other factors such as concomitant medication or other diseases that the patient presents. The problem is that there are no Clinical Pharmacology Services in all hospitals, so it will be necessary to provide reports from other referral centers. It is also necessary to train healthcare professionals in the basics of pharmacogenetics so that they know when to request these biomarkers, what information they can provide, and how to interpret the results.
Q.- What future do you see for pharmacogenetics and its impact on medicine?
R.-Individualization of treatment to reduce variability in drug response will be one of the major changes in medical practice in the next 10-20 years. Currently, there are a few dozen medicines that have associated biomarkers, but as scientific knowledge advances, the number of medicines with biomarkers will be much higher and the number of patients that can benefit will also be much higher.
However, progress in this field is slow because the prediction of the response depends on a large number of genetic and non-genetic factors, so further research must be carried out to find suitable biomarkers and demonstrate their usefulness in daily clinical practice. Possibly artificial intelligence can help in this investigation.
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