Over the course of thousands of years, health practitioners have sought after more effective treatment for patients through observation and experimentation, carefully building on the efforts of the previous generations.
But for the most part, medicine has always been created and prescribed based on taking a statistical average of its effect on human population samples. While medicine used in this manner helped a lot of people, it failed to ameliorate the medical conditions of many. That’s why the ultimate goal of clinicians has been to create more accurate, proactive, precise, and impactful care for each individual.
Modern physicians and scientists are at the forefront of making this a reality, a destination far beyond what our ancestors envisioned. With the help of electronic medical records, genetic testing, big data analytics, and super-computing, all crucial ingredients for creating truly personalized medicine are in view.
Definition of Personalized Precision Medicine
Precision medicine is the concept of tailoring disease treatment and prevention to account for differences in genetic, environmental, and lifestyle habits of specific people groups. It analyses the genetic and biomedical information unique to a group of patients and uses it to streamline a medication that will be much more effective.
Precision medicine is also referred to as personalized medicine, but the ‘personalized medicine’ term has been falling out of favor. Personalized medicine is commonly misinterpreted to imply that treatments and preventions are being developed uniquely for each individual. That is not the case. In precision medicine, the focus is on creating treatments that apply to groups of individuals who meet certain characteristics.
Understanding the Role of Genes in Precision Medicine
When it comes to chronic diseases, genetics play a crucial role in the way food, medication, and other supplements are metabolized and used by a person’s body. A therapy that’s right for a person may be ineffective for a person with the same medical condition but a different genetic makeup.
Examples of Genetic Weakness
Consider a patient that has genetic weakness in the immune system “off switch” like SNP CTLA4. That patient won’t be able to effectively turn off inflammatory cytokines and this will lead to runaway inflammation. If the patient is exposed to inflammation-inducing events like stress, infections, vaccines, etc., their body produces inflammatory cytokines, but because of the weakness of CTLA4, the body cannot turn off the inflammation.
For better insight, let’s consider another patient with the dreaded C677T. This condition decreases a person’s methylation capability by about 40%/70% (hetero/homo). In the methylation process, methylfolate is produced, which is central to generating energy and ATP that makes many important neurotransmitters like serotonin and GABA. With this decreased capability, the patient suffers from fatigue, low energy, and other symptoms associated with reduced production of serotonin, dopamine, and GABA.
Finally, imagine a patient with these two conditions; significant inflammation and methylation deficiency. The right medication to use should be methylfolate. However, without first addressing the inflammation before using methylfolate, the patient gets sicker. It’s like knowing the recipe for making spaghetti but having no idea on the procedure – it’ll end up a complete disaster. Precision medicine, in this instance, helps medical practitioners understand not only the right medication but the right order to obtain the intended result.
The Promise of Precision Medicine
Throughout human history, medicine has been largely reactive. Even today, we mostly have to wait for the onset of diseases before trying to treat or cure them. However, because precision medicine is based on each patient’s genetic medicine, it holds the promise of breaking from the limitations of traditional medicine.
Here are some of the applications healthcare providers are increasingly harnessing precision medicine for:
- Shifting the emphasis of medicine from reactive to preventive
- Predicting susceptibility to disease
- Improving disease detection
- Preempting disease progression
- Customizing strategies for disease-prevention
- Avoiding prescribing drugs with predictable side effects.
- Saving treatment time and boosting the success rate
- Eliminating a trial-and-error approach to treatment.
Case Study: Precision Medicine in Cancer Treatment
Approximately 1.7 million cases of cancer are diagnosed each year in the United States, and it claims about 600,000 people. It was one of the leading causes of death in America, second only to heart disease. The Agency for Healthcare Research and Quality estimates that the economic cost associated with cancer is about $80 billion per year in terms of lost productivity, wages, care costs.
Do you know that all cancer is caused by a genetic change or mutation of some kind? In simple terms, cancer cells are just mutated versions of normal cells. While our knowledge is still limited with regards to the genes and mutation involved in the development of cancer, there has been significant progress. For instance, depending on the certain gene mutation, it is possible to tell if that person is more likely to have a specific type of cancer. Furthermore, if a person has a certain cancer type, it is possible to tell based on certain mutated genes if they will respond well to a specific treatment.
With precision medicine, doctors may be able to:
Prevent Certain Types of Cancer
Imagine a person from a family where cancer runs. If their doctor notices this pattern, the person might undergo genetic testing from a certified genetic counselor. Thereafter, the results can be analyzed to see if the gene change or mutation increases their risk for certain cancer types. If recognized early in life, it is possible to prescribe medicine and suggest healthy lifestyle habits that may help significantly reduce the risk.
Precision medicine can also be used to prevent certain cancer types from developing.
Better Diagnose Cancer
Late diagnosis is one of the major challenges that complicate cancer development. Precision makes cancer diagnosis easier. Biomarker tests can be done using blood saliva, blood sample, biopsy tissue, or body fluids.
Develop Effective Cancer Treatment
Genetic testing can help doctors determine the best course of treatment because certain gene changes can affect how a tumor responds to certain treatments. As a concrete example, melanoma skin cancer can be caused by a variety of gene mutations. This means that a treatment that works for a certain variant may not work for another. Since the goal is to give a treatment that can specifically target the gene mutation with minimal side effects, knowing what genes to target can be helpful. Targeted therapy and immunotherapy are two types of treatment often used in precision medicines for this purpose.
We are just beginning to scratch the surface of how personalized precision medicine can help transform the field of medicine. Neurodegenerative diseases like Alzheimer’s disease, rare genetic conditions, and cancer take an enormous toll on individuals, families, and society as a whole. With the promise of precision medicine, the future is, indeed, bright.
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