Biomarkers play a key role in precision medicine applications

Acting President of the Spanish Society of Pharmacogenetics and Pharmacogenomics (SEFF)

According to the US Cancer Institute (US National Institutes of Health), genetic biomarker testing, or biological markers, is a way to identify (in blood, urine, or body tissue) genes, proteins, and other substances that suggest information about diseases such as cancer. When talking about biomarkers, also included are so-called “tumor markers,” which refer to proteins produced by healthy cells and cancer cells in the body, as well as mutations, changes, or patterns in tumor DNA.

Cancer Each person has a unique set of biomarkers.as explained by the NIH, and are used in medicine at all stages of the disease: diagnosis, prognosis, stratification, treatment and follow-up. Some biomarkers influence the effectiveness of certain treatments against cancer, so these tests help doctors diagnose and monitor cancer during and after each patient’s treatment by assessing their effectiveness and adjusting therapy according to the patient’s individual response.

Precision medicine is based on the use of biomarkers to personalize treatment. in accordance with individual genetic characteristics, increasing effectiveness and reducing side effects.

OXALUD interviews the acting president of the Spanish Society of Pharmacogenetics and Pharmacogenomics (SEFF), Cristina Rodriguez-Antona which explains the importance of precision medicine and biomarkers in the fight against cancer through tailored treatment for each patient, since Side effects of drugs are a serious health problem. A researcher at the National Center for Cancer Research (CNIO), the new president of SEEF specializes in the discovery of predictive biomarkers of efficacy and toxicity in cancer using genomic approaches. She is the principal investigator of various pharmacogenomics projects focused on cancer treatment and has published over one hundred scientific papers on the topic.

QUESTION. – How can genetic biomarkers improve the accuracy and personalization of medical treatment in the NHS?

REPLY.- Biomarker-based medical interventions can provide more effective and safe preventive, diagnostic and treatment strategies that are personalized for each patient. It also supports the sustainability of health systems by allowing rationalization of the use of drugs and treatments that are becoming increasingly complex but also more expensive. In the case of pharmacogenetics, identifying genetic variants associated with drug toxicity or lack of efficacy allows for personalized pharmacological treatment, increasing its effectiveness and safety. The existence of a unified catalog of genetic biomarkers in the national healthcare system ensures equal access to innovation and with maximum quality guarantees.

Question: What is the importance of including genetic biomarkers in the early diagnosis of diseases and how can this positively affect the effectiveness of treatment?

A.- Diagnostic markers are critical for early detection of diseases and offer better treatment options. A prime example is cancer, which can have a very good prognosis in the early stages but is associated with worse survival when detection is late and the disease is advanced or metastatic.

Question. How can genetic biomarkers help identify people with a genetic predisposition to certain diseases, allowing for more effective preventive interventions?

A.- Returning again to the example of oncology, if a person is known to carry a mutation that increases the risk of developing cancer, personalized monitoring can be proposed to allow early detection of lesions or surgical measures and/or specific treatments. your risk of developing tumors.

Question. What are the potential benefits of using genetic biomarkers to optimize healthcare resources by targeting specific treatments to those who benefit most?

A.- The use of pharmacogenetic biomarkers has a direct impact on the patient, who has a lower risk of toxicity and greater clinical benefit. This results in improved health systems by reducing the number of hospitalizations, clinical tests and medical consultations, and avoiding the costs of treatments that are ineffective or cause toxicity in some patients.

Question: To what extent can the inclusion of genetic biomarkers help reduce the side effects of treatment, thereby improving the quality of life of patients?

A.- Side effects of medications are a serious health problem. Determining a patient’s pharmacogenetic variations allows toxicity to be avoided by selecting the most appropriate dose or using an alternative drug.

Question: How can the introduction of biomarkers into the NHS contribute to precision medicine and personalized care?

A.- Precision medicine requires specific medical interventions based on biomarkers. In the case of pharmacogenetics, the “trial and error” system is avoided when choosing treatment. Knowing the pharmacogenetic profile allows us to use this information to select the dose or drug that is best for each patient and offer safer and more effective treatment to each individual. The use of pharmacogenetic biomarkers in healthcare helps to improve the accuracy of medicine in our country.

Question. What are the ethical issues associated with the inclusion of genetic information in health care, and how can they be effectively addressed?

A.- The usefulness of pharmacogenetic results lies in their inclusion in patients’ medical records (within a system that guarantees an ethical and legal basis) and in the development of simple tools that guide health care providers how to use this information. Most pharmacogenetic biomarkers are not associated with disease development; Only when a patient is exposed to a particular drug will an effect be observed, be it toxicity or lack of effectiveness. This fact makes the ethical implications for pharmacogenetic biomarkers less significant than for genetic disease markers. Despite this, pharmacogenetic data should have the same safety net as any other genetic or medical test.

Question: What are the potential economic implications of introducing genetic biomarkers into the NHS, considering both the initial costs and the long-term savings from ineffective or inappropriate treatments?

A.- The use of biomarkers allows us to identify the specific needs of each patient, which leads to more effective treatment of pathology. For example, by selecting the most appropriate therapy from the outset, there is a reduction in costs associated with the drugs themselves, as well as other costs associated with medical examinations, interventions and side effects such as hospitalization or sick leave. An individual’s pharmacogenetic profile can be determined using genetic tests, which are often simple and inexpensive.