Author: Sarkar M Shahin
Precision medicine is a novel approach in modern healthcare that integrates DNA or genetic information. In other words, precision medicine offers an innovative treatment method that involves accurate drug recommendations, correct dosages, avoidance of unnecessary medications, elimination of inappropriate treatment costs, and reduction of side effect risks. Currently, the conventional “One-Size Fits All” approach is widely practiced, where treatment guidelines for medicines and other patient care are based on general standards. However, due to individual genetic differences, metabolism, and other variations, this trial-and-error method may not be effective for everyone. The main goal of this approach, often referred to as precision or personalized medicine, is to diagnose and treat diseases based on a patient’s unique genetic makeup, molecular profile, and personal information rather than traditional, generic treatment. https://www.youtube.com/watch?v=6NdXsoo0j3I
The Importance and Impact of DNA or Genes in Precision Medicine:
Genes are the carriers of heredity in the human body. Located in the nucleus of our cells, they are composed of deoxyribonucleic acid (DNA). Genes are passed down from parents to their children, maintaining this hereditary process across generations, as has been the case since the beginning of human history. Genes serve as the information carriers for a person’s unique traits and attributes, including physical nature, body structure, growth, height, eye color, and susceptibility to diseases. However, this genetic transmission in humans does not always follow a completely accurate pattern. This systematic irregularity is known as genomic variation or mutation, which in Bengali is referred to as DNA alteration or modification. The rate of DNA mutation is only 0.01%. The remaining 99.99% remains unchanged. It is precisely because of this 0.01% variation in human DNA that every person in the world is unique. This individuality is also true for disease types and progression. In precision medicine, the guideline for disease treatment often follows a method called gene sequencing or genotyping. One of the notable approaches here is pharmacogenomics.
Precision Medicine and Pharmacogenomics: After a patient takes a drug, the efficacy, side effects, and metabolic process trigger certain responses, which are influenced by genetic differences. Pharmacogenomics investigates the interrelationship between genetics and drug effectiveness. For example, some genes instruct the body on how to process or break down medicines. The process of pharmacological breakdown, or catabolism, does not follow the same rules for everyone. For some individuals, this process may be “poor” (slow), “normal” (medium), or “ultra-rapid” (fast). This means that the same medication can trigger different metabolic responses in different people. Due to individual genetic differences, some drugs can be harder to metabolize for certain people, rendering standard doses ineffective or causing side effects, while for others, even doses below normal can be highly effective without adverse effects. Pharmacogenetic (PGx) testing evaluates specific gene variations that influence drug metabolism, thus helping to establish the precision medicine process.
How Does Pharmacogenomics PGx Testing Work?
Pharmacogenomic testing involves analyzing a person’s DNA or genes to identify their genetic profile—such as variations or mutations—and, based on their metabolic characteristics, determines which drugs and dosages would be most appropriate. The clinical guidelines for applying these tests are endorsed by international scientific consortia such as the Clinical Pharmacogenetics Implementation Consortium (CPIC), Dutch Pharmacogenetics Working Group (DPWG), and the US Food and Drug Administration (US FDA). Recognized guidelines for gene-drug interactions are already available as a free online resource (www.pharmgkb.org) and are widely used as a clinical reference. https://youtu.be/BjUlLkSbhxk
The Golden Advancement of Precision Medicine: In the 21st century, pharmacogenomics and precision medicine have become emerging approaches for drug selection, playing a critical role in healthcare. In many developed countries, these pioneering tests have already had a notably positive impact. Depending on the mental health needs of children and youths, Canada has successfully implemented the first evidence-based pharmacogenomics testing method (www.psychpgxlab.com/projects/pgx-spark) over the past few years. This research group has already treated over two thousand patients based on pharmacogenomic testing for mental health issues in children and adolescents, such as depression, anxiety, neurodevelopmental disorders like Autism, Autism Spectrum Disorder (ASD), ADHD, OCD, and Anxiety Spectrum disorders. This ongoing pharmacogenomics group believes that current use of mental health medications (such as antidepressants, antipsychotics) in young people is largely based on a trial-and-error process, which can have substantial effects on the well-being of patients and the finances of their families. This trial-and-error process can be partly avoided by applying pharmacogenomic testing, which not only helps improve medication effectiveness but also reduces the risk of illness, mortality, and unnecessary costs associated with inappropriate medication responses. As a result, precision medicine allows a clinician to deliver the right medication to the right patient at the right time.
In conclusion, the proper application of pharmacogenomics and precision medicine holds tremendous potential for the treatment of various medical fields—including neurodevelopmental disorders, cancer, arthritis, diabetes, and heart disease. In developing countries, especially in densely populated nations like Bangladesh, implementing these methods can positively impact public health, medical education, healthcare provision, and reduce the economic burden of treatment.
Author:
Sarkar M Shahin
Researcher, Neurogenetics & Precision Medicine.
Department of Psychiatry, Pharmacology & Medical Genetics.
University of Calgary, Canada.
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