Genetics makes us unique, though it may sound somewhat idealistic. It serves as our "instruction manual" in pathology, behavioral trends, and furthermore, in identifying our individual genetic characteristics.
Currently, we are witnessing the evolution of various health expressions through genetics. Pharmacogenomics emerges as a branch of science enabling the creation of personalized and precise medicine based on each patient's genes.
Although we have already touched on this topic, then...
What is Pharmacogenomics?
Pharmacogenomics is the study of how genes affect a person's response to medications.
This field combines pharmacology (the science of drugs) and genetics (the study of genes and their function) to develop effective and safe treatments tailored to the genetic variability of each individual. In hospital practice, this means treatments can be adjusted more precisely, reducing the possibility of adverse effects and increasing therapeutic efficacy.
Practical Applications of Pharmacogenomics in Hospital Pharmacy
Pharmacogenomics integrates into various aspects of hospital pharmacy. Some examples of practical applications include:
Oncology: It allows for the identification of genetic polymorphisms that affect the response to chemotherapy treatments, enabling personalized treatment that can result in more effective and less toxic therapies.
Rare Diseases: For patients with rare diseases, genetic analyses can be crucial in identifying personalized treatments that would otherwise not be available.
Infectious Diseases: Especially relevant for treating resistant infections and improving treatment effectiveness, particularly in patients with weakened immune systems.
Pain Therapy: By understanding how a person metabolizes opioids and other analgesics, dosages can be adjusted to avoid adverse reactions, optimizing management of both chronic and acute pain.
Transplants: For patients who have received transplants, pharmacogenomics is crucial in the selection and dosing of immunosuppressants. This significantly reduces the risk of organ rejection and related complications, thereby improving transplant survival and long-term patient health.
Benefits of Pharmacogenomics for Patients
Pharmacogenomics offers multiple benefits, both for patients and healthcare professionals. The top 3 are:
More Effective Therapies:
By tailoring treatments to a patient's genetics, better therapeutic outcomes can be achieved.
Reduced Side Effects:
Identifying genetic variants predisposing to adverse effects allows avoiding medications that could potentially create other conditions.
Improved Treatment Adherence:
Personalized treatments are more effective and better tolerated, potentially improving patient adherence to therapeutic regimens.
Case Studies and Practical Examples
To better understand the impact of pharmacogenomics, I want to share some cases we have investigated:
Breast Cancer Treatment:
In collaboration with various institutions, we conducted pharmacogenomic research focused on identifying specific genetic polymorphisms influencing the response of young breast cancer patients to chemotherapy and hormone therapy, such as tamoxifen.
Key genes studied were: CYP3A4, CYP2B6, CYP2D6, and CYP2C19, known for their role in estrogen and drug metabolism, such as cyclophosphamide and taxanes.
Through this, we identified firsthand these genetic biomarkers, allowing us to develop algorithms and ultra-precise genomic analysis tools on how patients will respond to different therapeutic options.
Personalized Medicine in Psychiatry:
Many patients seeking help for anxiety and depression face significant challenges with standard treatments. Many do not respond as expected and experience troublesome side effects with prescribed medications. This remains a major issue in psychiatry.
Therefore, at Duponte, we conducted our own research and observed the role of genes such as CYP1A2, CYP2C9, CYP2C19, CYP2D6, CYP3A4, and CYP3A5 in drug metabolism.
Challenges in Implementing Pharmacogenomics
Despite the numerous benefits, implementing pharmacogenomics in hospital pharmacy faces several challenges:
Lack of Hospital Coordination: Integration of pharmacogenomics varies greatly among different hospitals, largely due to a lack of clear regulatory framework and variability in medical staff training and knowledge.
Regulation and Legislation: Current regulations are more focused on research than clinical practice, limiting its application in diagnostic and treatment contexts in hospitals.
Costs and Funding: Genetic testing can be expensive, and funding is not fully established in all healthcare systems.
At Duponte, we understand these challenges and have developed our own solution, MatchGenica, a software that improves coordination among different hospital departments and facilitates the use of pharmacogenomics in daily practice.
MatchGenica makes patient monitoring more comprehensive, faster, and easier by integrating genetic data directly into the clinical process. Thus, physicians and specialists have simple and up-to-date access to patient genetic information.
With this, we aim to improve treatments, reduce costs, and enhance both coordination and the center's reputation.
The Future of Pharmacogenomics in Hospital Pharmacy
It is promising. Rapid technological advances supported by AI are making it increasingly a tangible reality and within reach for everyone. And these desired advances are undoubtedly:
Expansion of Genetic Testing: The availability and accessibility of genetic testing will increase, facilitating its use in a wider variety of clinical settings.
Education and Training: Continuous education of healthcare professionals in pharmacogenomics, as the figure of a geneticist doctor is not yet established but rather there are multiple specialties.
Development of New Therapies: Research in pharmacogenomics will continue to drive the development of new therapies and personalized treatments in health areas where its reach is still limited.
With these advances, pharmacogenomics is not only transforming current clinical practice but also setting standards for personalized medicine. Establishing new norms in healthcare.
And tools like MatchGenica are proposed as first-generation leaders in this medical advancement by integrating genetic data directly into the clinical process, facilitating more personalized, coordinated, and effective treatment for each patient.
Do you know what you can discover with a DNA analysis? Keep reading here
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