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Acting President of the Spanish Society of Pharmacogenetics and Pharmacogenomics (SEFF)
According to the United States Cancer Institute (nih), genetic biomarker testing or biological marker is a way of identifying genes, proteins, and other substances (in blood, urine, or body tissues) that provide Information about diseases like cancer, When talking about biomarkers, so-called “tumor markers” are also included, which refer to proteins produced by healthy cells and cancer cells in the body, as well as mutations, changes or patterns in the DNA of tumors.
cancer of Each person has a unique set of biomarkersAs described in the NIH and used in medicine at all stages of the disease: diagnosis, prognosis, stratification, treatment and follow-up. Some Biomarkers Affect How Some Treatments Work against cancer, which is why these tests help doctors diagnose and monitor each patient’s cancer during and after treatment as they are able to evaluate their effectiveness and adjust therapy according to the patient’s individual response. Allow.
Precision medicine is based on the use of biomarkers to personalize treatment According to individual genetic characteristics, improving effectiveness and reducing side effects.
OKSALUD interviewed the Acting President of the Spanish Society of Pharmacogenetics and Pharmacogenomics (SEFF), Christina Rodriguez-Antona Which explains the importance of precision medicine and biomarkers in the fight against cancer through specific treatments for each patient Side effects of drugs are a big health problem, The new Chair of SEEF, a researcher at the National Cancer Research Center (CNIO), has expertise in the discovery of predictive biomarkers of efficacy and toxicity in cancer through genomic approaches. She is the principal investigator of various pharmacogenomics projects focused on oncological treatments and has published over a hundred scientific papers on the topic.
Q.- How can genetic biomarkers improve the accuracy and personalization of medical treatment in the National Health Service?
Answer.- Making medical interventions based on biomarkers makes it possible to provide more effective and safe preventive, diagnostic and therapeutic strategies in an individualized manner for each patient. It also supports the sustainability of health systems, allowing to rationalize the use of medicines and treatments that are increasingly more sophisticated, but also more expensive. In the case of pharmacogenetics, the determination of genetic variants associated with the toxicity or lack of efficacy of a drug allows individualization of medicinal treatment, thereby improving its effectiveness and safety. The existence of a common list of genetic biomarkers in national health systems ensures equal access to innovation and guarantees maximum quality.
Question- What is the relevance of incorporating genetic biomarkers in early diagnosis of diseases, and how can it positively impact the effectiveness of treatment?
One.- Diagnostic markers are important for early detection of diseases and providing better therapeutic options. A clear example of this is cancer, which may have a very good prognosis in its early stages, but is associated with worse survival when detected late and the disease is at an advanced stage or with metastasis.
Q.- How can genetic biomarkers contribute to the identification of people with genetic predisposition to certain diseases, allowing more effective preventive interventions?
One.- Using an example again in oncology, if it is known that a person is a carrier of a mutation that increases the risk of developing cancer, personalized monitoring can be offered that targets lesions or surgical measures and/or specific Allows early detection of treatments. Your risk of developing a tumor.
Q.- What are the potential benefits of using genetic biomarkers in optimizing health system resources, by directing specific treatments to those who benefit most?
One.- The use of pharmacogenetic biomarkers has a direct impact on the patient, with a lower risk of developing toxicities and a higher clinical benefit. This has led to improvements in health care systems, as the number of hospitalizations, diagnostic tests, and medical consultations is reduced, while also avoiding the costs of treatments that are ineffective or that cause toxicity in some patients. Become the cause of.
Question: To what extent can the inclusion of genetic biomarkers help in reducing adverse side effects of treatment, thereby improving the quality of life of patients?
One.- Side effects of medicines are a big health problem. Toxicity can be avoided by determining a patient’s pharmacogenetic variants, choosing the most appropriate dose, or using an alternative drug.
Question: How can the implementation of biomarkers in the National Health Service contribute to precision medicine and personalized medical care?
One.- Precise therapy requires specific medical intervention based on the biomarker. In the case of pharmacogenetics, the “trial and error” system in treatment selection is avoided. Knowing the pharmacogenetic profile allows us to use this information to select the dose or drug that is most appropriate for each patient, and provide safer and more effective treatment to each individual. The use of pharmacogenetic biomarkers in healthcare contributes to precision medicine in our country.
Question: What are the ethical challenges associated with incorporating genetic information into the health system and how can they be effectively addressed?
One.- The usefulness of pharmacogenetic results is linked to their inclusion in the clinical history of patients (within a system that guarantees ethical and legal framework) and to the development of simple tools that allow health professionals to use this information. Give signals. Information Most pharmacogenetic biomarkers are not associated with the development of diseases; Only when the patient is exposed to a specific drug will there be an effect, whether toxicity or lack of efficacy. This fact makes the ethical implications lower for pharmacogenetic biomarkers than for genetic markers of disease. Nevertheless, pharmacogenetic data should have the same safety framework as any other genetic or medical test.
Question: What are the potential economic impacts of the implementation of genetic biomarkers in the National Health Service, taking into account both the initial costs and the long-term savings in ineffective or inaccurate treatments?
One.- The use of biomarkers allows the specific needs of each patient to be identified, which translates into greater effectiveness in addressing pathology. For example, selecting the most appropriate therapy from the beginning reduces costs derived from medications, and other costs associated with medical tests and interventions and adverse effects, such as hospital admissions or sick leave. An individual’s pharmacogenetic profile can be determined through genetic tests that are often simple and low-cost.
