Most people are familiar with what to do when a non-emergency medical need arises: an appointment is set with a medical professional, and after a discussion and evaluation appointment, a treatment or prescription is offered as a potential solution. If the condition continues, a second appointment with a provider is in order, and a new round of medicine or treatment is given in hopes that this one will do the trick. This strategy is repeated until a cure or solution is found, sometimes even taking years to find for certain ailments. Some patients may endure a myriad of problems as potential solutions are tested, discarded, and retried.
Oftentimes many potential treatments must be tested before success is reached - if a solution is even found at all. Hopping on and off this medical intervention carousel is the accepted norm, with patients receiving thoughtful but generalized care that is based on the expectations of what “usually works” in any given situation. While this one-size-fits-all standard of care works in many cases, it is becoming increasingly irrelevant in today’s rapidly advancing medical field. A more personalized method of treatment is available, and medical professionals and patients alike are already benefiting from its widespread and growing transformative use.
Defining Personalized Medicine
The concept of personalized medicine is two-fold. First, the genetics of a patient are strategically examined. Then, a specific type of treatment plan is put into place based on that knowledge, drawing in additional information from similarly composed groups. This means that the healthcare treatments can be more direct to a person’s DNA, genetics, and history. A personalized medicine treatment plan is also marked by preventative treatment, rather than only waiting for problems to occur and then relying on reactive medical intervention.
While it is simplistic to say that looking at genetics gives researchers an idea for a treatment plan, this is the initial understanding of personalized medicine. A deeper discussion into this precise view of medicine also allows for the fact that no two people have identical genetic composition, and therefore each individual must be treated, at a molecular level, appropriately. Not only is the genetic map of DNA looked at, but how that genetic disposition reacts to disease and medicinal treatments of importance.
At its base level, personalized medicine directly focuses treatment based on the individual make up of a person. Using genetic mapping and research, a grouping of people with similar ethnicities or backgrounds can also be more precisely given medical treatment, as their similar genetic makeup tends to show parallel similarities in how their illnesses develop and how their DNA composition reacts to treatments.
What Patient Information is Gathered?
Personalized medicine is primarily based on the measurements and evaluations of a patient’s genetic profiles, including the genomic, epigenomic, and proteomic. Genomic evaluation involves discovering the complete sets of genes inside of a cell, which determine the physical makeup of that person. This data collection is an important starting point for not only a patient’s personalized medicine treatment, but also to gather as part of a genetic map for others with a similar ethnicity or background. Another profile that is utilized is the epigenomic, which is the study of the chemicals that make the genes function. This epigenomic research supports the understanding of how genes will react (or not) to chemicals outside of the body.
Lastly, how the cell protein functions under different circumstances is studied, and this profile is called proteomic. Understanding how the protein changes when the body is stressed, for example, gives great insight into how treatments or preventative measures will support the health of that individual. These three genome-based data sets hold the keys to specific understanding potential and realized medical issues, providing clarity and direction for healthcare providers.
Using the Genetic Profile
The make up of genes, how they work, and what influences how they work are all integral parts of understanding how an individual reacts to illness and treatments. The study of DNA has shown a clear connection between specific genomic, epigenomic, and proteomic traits and certain illnesses or tendencies. For example, specific biomarkers in genetic profiles can be attributed to the likelihood of medically challenging situations like having high blood pressure or contracting breast cancer. Once the profile is created and analyzed, these undesirable future situations can be preventatively treated. By utilizing other avenues like diet, medical treatments, and lifestyle changes, these medical conditions may be potentially avoided altogether.
How the genes respond to treatment, or the epigenomic and proteomic profiles, is also used in personalized medicine. Extensive medical research is uncovering how specific drugs react to different genetic makeups. While creating an individualized medical plan that accounts for not only the genetic profile but also the patient’s personal situation is ideal, it is not the purpose of personalized medicine. Instead, this 21st century view of medicine looks to group the genetically similar into small strata to provide a subset of likely successful treatments.
Since research has shown that certain DNA profiles or ethnicities might react in a similar way to a drug or a treatment, personalized medicine also uses this genetic grouping to diagnose and predict potential diseases or problems. Using this specific grouping allows more people to benefit from targeted medical advice. Not only does this save time in the preventative and prescriptive phases of treatment, but the treatments prescribed are more likely to be successful.
Benefits to the Patient
Modern medicine changes daily with research, drug trials, and the ever-growing body of data that comes from understanding how people react to treatments. One of the most exciting benefits of using a personalized medicine strategy in healthcare is an immediate effectiveness in treatments. A doctor no longer will have to prescribe from a large group of “best choice” options based solely on a patient’s age, height, and weight. Instead, the patient’s genetic profile along with that of others with a similar genetic or ethnic group are considered, and a smaller grouping of treatments or medicines are ranked by their potential to be successful for this person.
Bypassing the traditional medicines and skipping directly to the choices that are most likely to work not only increases the chances that the patient will find relief sooner, but it also can prevent unneeded or dangerous drug side effects. Almost all medicines come with a host of potential adverse effects, but for the most effective drug they can be tolerated if the initial problem is solved. With personalized medicine, the targeted drug or treatment is honed-in on much quicker, minimizing or eliminating potentially harmful additional medical problems.
Instead of just finding a solution for a problem, this modern approach to medicine also benefits the patient by working toward prevention of disease before even symptoms begin. A preventative diet and therapeutic measures can be prescribed when a genetic disposition to a disease is identified, reducing the impact of a difficult medical situation or even potentially saving the patient from a devastating diagnosis.
Medical Community Benefits
When a problem arises, we want expert advice to lead us to a solution. With advances in genome research, medical professionals are going to have access to a deeper understanding of how genetics contribute to increased wellness. The use of genetic and DNA testing will give doctors the tools they need for a more precise perspective on prevention and treatments. As the use of personalized medicine becomes more widespread, a greater understanding of how this knowledge can be applied to each patient grows as well. Instead of seeking out an elusive and hard to schedule expert, more and more medical professionals will have access to the secrets that genetic testing unlocks, and society will be healthier as a result.
As the use of precise genetic-based treatments increases, medical professionals across the board will begin to see more collaboration in their work and knowledge. Patient care, both preventative and reactive, will work hand in hand with ongoing researchers in the quest for connections between genetics and healthcare. These interdisciplinary teams will work together to continue to provide an ever-increasingly personal approach to medicine. Each will refine their own abilities in their areas of expertise as well as grow in their knowledge about the other closely related fields. Patient-facing decisions will require this integration of healthcare teams, and the medical educational structure has already begun to embrace this change to best equip these professionals for the future direction of a personalized medicine model.
The Future of Personalized Medicine
Technology continues to evolve at a rapid pace, so it is not a stretch to imagine that the upcoming technological capabilities of genome testing and its applications will continue to change as well. As new and exciting research and technology merge, the precision available in medicine that is personalized down to the DNA will continue to be refined. As testing becomes more commonplace, society will begin to reap the benefits of the medical community’s understanding of how individuals are similar and different to other genetic profiles. Testing out a treatment or medicine to see if it works on you might be a thing of the past. As noted genome researchers Wolfgang Sadée and Zunyan Dai describe this precision-based medicine, future medical interventions will be laser focused on providing preventative treatments as well as “the right drug, at the right dose, to the right patient at the right time.”
As private entities and governmental bodies continue to dedicate funding towards genetic mapping research, this field is poised to become the future gold standard in medicine. In 2015, the Precision Medicine Initiative began what is now known as the All of Us Research program, which aims to genetically map 1,000,000 people to kick off a larger scale body of research in this field. Intended to quickly jumpstart the use of genetics in medicine, this initiative is ongoing and benefits all areas of medicine. An ambitious project at the time, it has grown in scope and ability to contribute to the discussion of the future of precision medicine.
Today, this gene mapping is aiding research in areas such as opioid use in cancer patients to better understand how to treat sickle cell disease. The use of genetic mapping continues to grow in prevalence. More and more people will benefit from this precise medical knowledge as the genetic maps and similar ethnic and DNA groupings grow. Clinicians and researchers will forge ahead, making headway in this medical frontier of genomic research. Continually improving and learning from personalized medicine will undoubtedly lead to a healthier society down the road for all of us.