Author: Hephzibah Kumi-Atiemo – 3rd Place in PROMPT!
Medical treatment is crucial to saving lives. But what happens when outdated medicine, which views patients as a monolith, is administered? Patients are left with thousands of dollars in hospital bills, they may suffer adverse effects from ineffective medicine, and pounds of medical waste are compiled. But what if there were a solution to avoid these problems? Introducing personalized medicine— a pharmacogenetic healthcare approach that tailors disease prevention and treatment to an individual’s needs.
Before diving into personalized medicine, a clear understanding of its foundation is necessary. Personalized medicine is based on the principles of pharmacogenetics: the response to medicine is based on factors such as genetic makeup and lifestyle, including diet and exercise. Personalized medicine utilizes data from these factors to administer the correct treatment.Genetic makeup refers to the complete set of genes inherited from an individual’s parents. Genes are short segments of Deoxyribonucleic Acid (DNA) that provide the instructions for building specific proteins in the body. Multiple genes are organized along long strands of DNA, which are made up of four basic building blocks: adenine, cytosine, guanine, and thymine. These are known as nucleotides. These strands of DNA coil together to form chromosomes. Each chromosome contains matching DNA sequences that make up specific genes, except for the sex chromosomes (X and Y). Humans typically have 23 pairs of chromosomes (46 total), which means each gene is usually present in two copies— one on each chromosome of a pair.
Genes affect a person’s height, weight, predisposed health conditions, and more. An example of gene-related health conditions is sickle cell anemia. This is an inherited blood disorder where red blood cells become stiff and sticky, resulting in a crescent-like shape. These abnormal cells can block blood flow, causing extreme pain and leading to further health problems. This disease is more prevalent in certain ethnic groups. Since an individual’s genetic makeup may affect how they respond to a medicine, inherited diseases, similar to sickle cell anemia, may interfere with the effectiveness of a drug/treatment. Additionally, other genotype factors, such as differing weights, genders, ages, and heights, will have an effect on how different individuals react when given the same drug. For instance, due to their genotype, some people metabolize drugs slowly. This causes the drug to accumulate in the body, making them more susceptible to toxicity. In contrast, others metabolize medication too quickly, and this may cause drug levels in the blood to never rise to a certain level for the drug to be effective.
Medication response is not based on genotype alone, but also on lifestyle factors such as diet and lifestyle. Medical professionals recommend that patients maintain a balanced diet while undergoing treatment to ensure it has the proper effect on their bodies. Numerous studies have shown that the bodies of individuals who maintain nutrient-rich diets have a higher bioavailability compared to those with a poor diet. This means that patients who keep proper diets absorb drugs more effectively as compared to those who do not. When on a certain medication, every aspect of the meals a patient consumes may alter their body’s drug absorption.
It is not solely the amount of food you consume, but what kind of food you consume. Micro- and macronutrients also have an impact on drug absorption. Macronutrients refer to the three biggest nutrition categories: carbohydrates, fats, and proteins. Micronutrients refer to smaller nutritional groups, such as vitamins and minerals like iron, calcium, and zinc. Both of these compounds interfere with the function of medical treatment. For example, polyunsaturated fatty acids (PUFAs) may improve drug therapy for neuropsychiatric conditions. Specific PUFAs have even displayed protective effects against neurodegeneration. These PUFAs may ameliorate the condition of patients suffering from neurodegenerative diseases such as Alzheimer’s or Parkinson’s disease.However, having a poor diet can contribute to excess weight gain. The accumulation of visceral fat, an extremely harmful fat if housed in large quantities in the body, is caused by excessive weight gain. An overabundance of visceral fat may result in a decrease in blood flow, therefore slowing down the rate at which any given medication will move through a patient’s body. Being overweight may affect the organ function of the kidneys or liver, thus weakening their ability to absorb and reap the benefits of medication. The repercussions of being overweight may further extend to diminishing the bioavailability of certain drugs. Certain studies support that having too much visceral fat may reduce the effectiveness of chemotherapy drugs to treat cancer patients, which explains why obese patients may receive unsatisfactory results from chemotherapy compared to others in a healthy weight range.
If all these diverse, and at times, uncontrollable factors affect a person’s response to drugs, why should unique individuals harboring the same illness be given the same medical treatment? This is why modern medical researchers have discovered a way to study these factors and give personalized treatment to each person. Personalized medicine, also known as precision medicine, utilizes health records, lifestyle data, and special computers called DNA sequencers that collect raw genetic sequence data to administer the most ideal treatment to patients.
To undergo this treatment, prospective patients must undergo DNA sequencing. Samples like blood or saliva are collected from a patient and sent to a lab where their DNA is extracted. This extracted DNA is then sequenced using specialized machines that read the order of DNA bases (A, T, C, G, also known as adenine, cytosine, guanine, and thymine). After genomic data is gathered, all data, including medical records and lifestyle information, are analyzed to identify patterns and predict how an individual might respond to different treatments or preventative measures. This data is carefully taken into consideration, and the patient is prescribed the best medical treatment for their needs.
This medical model can be traced back to ancient times. Around 1550 BCE, the first evidence of personalized medicine was found in ancient Egyptian societies. In this instance, doctors realized that separating diseases according to the human body part and assigning specialist doctors for that specific part could help them better understand illnesses and consequently attain better therapeutic outcomes. Later on, in ~400 CE, ancient Greek physician Hippocrates suggested that “every human is distinct, and this affects both the disease prediction and the treatment.” Yet, though ancient recommendations suggested that medical care should not be treated on a broad scale, early 17th-century medical therapy ran clinical trials that only aimed for standardized treatment. This excluded 20% of the population that would not respond to treatment or experience adverse effects due to differences in their genetic makeup. It was not until the 1950s that the official modern concept of “personalized medicine” was born. Through breakthroughs in human genome sequencing and discoveries in the field of pharmacology, personalized medicine is actively being improved.
There are a vast number of pros to receiving personalized medicine. The opportunity to receive personalized medicine could be groundbreaking for some patients. For example, if children with leukemia get tested for the TPMT gene, doctors can provide them with the correct medication dosage to prevent toxic side effects. Therefore, making the child’s and their family’s experience more manageable than if personalized medicine practices were not used. Overall, using personalized medicine may give targeted treatments, reduce adverse effects, improve treatment outcomes, assist in early detection and prevention, and may be cost-effective in some aspects.
Since personalized medicine uses genetic, environmental, and lifestyle factors to identify the most effective treatment for a particular individual, treatments are more likely to be effective because they are specifically chosen based on the patient’s unique biological makeup. By considering differences, our solution aims to reduce adverse effects. Treatments are selected contingent on a deeper understanding of a patient’s genome and how they will react, thus reducing the risk of harmful side effects.
Personalized medicine leads to better disease management, increased survival rates, and an improved quality of life for patients. Individuals experience improved outcomes after treatment. Additionally, diseases and potential risks of developing illnesses are discovered earlier with personalized medicine because it utilizes genetic testing and other advanced diagnostic tools. Early intervention could be the difference between life and death for some patients. Moreover, being aware of certain predisposed conditions can help patients make more conscious decisions regarding their health. This peace of mind would benefit patients, their families, and their communities.
Although personalized medicine is initially expensive, it may prove to be more cost-effective in the long run. This treatment option avoids unnecessary treatments, reduces hospitalizations, and improves overall healthcare efficiency. Less money is wasted on treatments that may not work correctly.
Although the production of medicine harms the environment, the production of personalized medicine can have a positive impact. Personalized medicine is extremely precise, so less waste is produced. In turn, fewer ecosystems are harmed, and patients receiving the treatment have reduced carbon footprints.
Nevertheless, there are challenges with personalized medicine. Modern personalized medicine is not yet mainstream. There are various problems to be addressed if personalized medicine were to become the preferred way of prescribing medicine. Furthermore, personalized medication will have a major overall impact on insurance companies as well.
One of the major issues with personalized medicine is associated with the cost. In North America, the average cost of personalized medication is $300,000. Even if patients have health insurance coverage, there may be out-of-pocket costs. As the number of individuals receiving personalized medication increases, so will the cost of their health insurance. Medical insurance companies make a profit by raising the out-of-pocket prices for sick individuals; this includes people who need extremely expensive medication. If this form of treatment is adopted, there will have to be many changes within insurance companies’ policies before personalized medication can be offered to everyone.
Another issue with personalized medication is its limited availability. The vast majority of doctors are trained to use reactive treatments, meaning that all medical staff would have to undergo training and learn an entirely new way of treating people. The concept of modern personalized medication had only been conceptualized during the 1950s, meaning it is not entirely developed.
Furthermore, there are additional ethical concerns that are raised by the concept of personalized medication. The tests a person would have to undergo to receive personalized medication would reveal particularly personal medical information. Some patients may not be ready to learn or share these discoveries. Additionally, genetic testing is a controversial subject. Some argue that genes should not be the contributing factor in informing patients and their healthcare providers about the diagnosis of an illness. Genetic testing also forecasts the possibility of future diseases or conditions, permitting individuals to be subjected to discrimination based on information discovered through testing. For example, a health insurance company may deny a patient a claim due to a genetic disease discovered through testing.
The production of medicine, as a whole, poses a threat to organisms and their ecosystems. Living organisms and ecosystems are sensitive to the unnatural chemicals in pharmaceuticals, which contribute to many environmental issues, such as soil contamination, water depletion, and biodiversity loss.
Considering all of this, personalized medicine may not be perfect, but there is no denying that it is an up-and-coming advancement that could revolutionize the future of medical treatment. Doing so by tailoring drugs and treatment to each patient’s needs. Through the field of pharmacogenomics, medical treatment has a promising future. This treatment could be the life-saving factor every patient needs.
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