Our medical system is outdated. It is slow and often inefficient with its current treatments and diagnosis methods. Doctors are still using the same uniform treatments instead of individualizing them for their patients. The system is in drastic need for a change. Science needs to catch up to the technology that is rapidly growing around it. Genomic testing and precision medicine are the best combination of medicine and technology to lead our healthcare system into the future. If precision medicine replaced the “one size fits all” medical system we have in place today it would result relatively similar medical costs, more efficient treatments, healthier patients, and an overall smoother medical process. 

To fully comprehend the degree to which the healthcare system will be recreated, the idea of precision medicine must first be given a definition. Originally precision medicine was referred to as personalized medicine but many physicians have argued that “all medicine is personalized.” (Weiss) The aim for all doctors is to treat each patient’s individual symptoms to the best of their ability. The term was later altered to precision medicine because it implied a more specialized approach to treatment. Precision medicine, simply, is “applying the right drug to the right patient at the right time.” (Weiss) This systematic process of medicine sounds much more satisfying than having a doctor prescribe the same treatment and diagnosis to every patient with a similar condition. While it may seem hard to come up with multiple ways to apply chemotherapy or other drugs to a patient, precision medicine finds the perfect dose of medication that will maximize a treatments effectiveness for any single patient’s tumor or other ailment. The key to precision medicine is the use of different medication for different abnormalities in the body. For example, two patients may have a tumor in similar areas of their bodies but the mutations in each individual cancerous cell are completely different. Without precision medicine these two patients would receive the same treatment and for one it may work and the other it may not. This exemplifies how the medical system is broken because it uses basically the same methods for every individual patient even though every person has their own unique backgrounds. Precision medicine can identify the mutations in each tumor and prescribe the correct dosage and type of medication for each patient (McMullan). This ensures maximum effectiveness with every single patient. Precision medicine isn’t only used for serious diseases. It can be used to prescribe certain healthy lifestyles to keep people healthy and reduce their chances of contracting a disease. It is nearly impossible to identify any serious health problems by just observing a patient. There needs to be something that tells doctors exactly what is going on inside their patients. That’s where genomic testing comes it. This relatively new form of gene sequencing is the key to precision medicine. 

Genomic testing is a large part of precision medicine so it is important to understand what it is and it’s uses. The test is done using a tissue sample such as hair, blood, skin, and even amniotic fluid. Once the samples have been taken they are sent to a lab to be analyzed. At this point technicians search for specific changes in chromosomes, DNA, or proteins depending on the disorder that is being investigated. After a few weeks, a report is sent to either the doctor or the patient. This report gives detailed information about what mutations were present in the section of DNA or protein that was analyzed. With this information, doctors can identify if their patient is a carrier for a specific disease. There is a slight risk that a patient could still be a carrier of a disease from a mutation found in untested DNA sequences but that only occurs if a patient has two distinct diseases (McMullan).

Genomic sequencing can be used in a variety of environments but its most important use is in the medical field. It cost 2.5 billion dollars to sequence the first genome but today the tests can cost as little as one hundred dollars through certain companies (Shobert). Something unique about genomic sequencing is that it can be used before, during, and after a patient has contracted a certain genetic disease and provide vital information at all stages. With today’s broken system doctors can only guess what you are prone to base on past family records and have no way of knowing what mutations your body could harbor just by providing a routine diagnostic checkup. By taking a sequencing test before contracting a disease, doctors can see what each patient is genetically prone to and take preventive measures against those diseases (Yurkiewicz). This allows them to prescribe medication that will diminish or prevent the effects of certain symptoms. For example, if a patient’s genomic test identifies that they are prone to breast cancer their doctor can work with them to take preventative measures against the disease. Genomic testing is also important during and after someone has contracted a disease. These tests can use tissue sample from infected areas which identifies certain genes which are markers for a specific disease. Doctors then use this information to prescribe medications that can suppress the effects of the disease genes. While precision medicine is a revolutionary process to a better medical system, genomic testing is the tool that will lead it into the future. 

One major concern for precision medicine, specifically genomic testing, is the ethical dilemma of one group having control of every person’s DNA samples as well as their genetic background. The Partner’s Healthcare Biobank is working to lay these issues to rest. One of their main goals, per Elizbeth Karlson, is to receive consent from every person who donates blood or any other sample. Consent from patients will allow the Biobank to send some samples to researchers which will further knowledge on the human genome. They will also be allowed to share genetic results with databases such as dbGAP and return “actionable genetic research results.” (Karlson) The last two consent agreements are very important because it will allow the Biobank to test any individual’s genome for mutations and send the data back which would allow doctors to treat possible diseases. Studies conducted by the Biobank found that 89% of people would want a return of research for their genome if there were actionable results associated with them (Karlson). The Biobank even constructed a system to filter results as “actionable, potentially actionable or not currently actionable” (Karlson) which provides a definite scale for which patients need their results back in order to treat a possible life threatening disease. In her article, The Prospects of Personalized Medicine, Shara Yurkiewicz notes that there is currently no government or private regulation over distribution of genomic tests or the health effects they may have on patients. There have even been instances where companies have tested someone without their knowledge or consent (Yurkiewicz 16) which highlights the need for ethical standards set by the government and the companies that create the tests. Partner’s Healthcare Biobanks creation of their own consent and return of research policies provide patients with an easy way to send in samples to be tested and returned while also furthering research of human genomics without worrying about the ethical problems surrounding the practice.

Overall precision medicine and genomic testing will not lead to a more expensive medical system. While the integration of a precise biomedical test and precision medication into nearly every aspect of our medical system may seem expensive, there are ways in which genomic testing can become cost-effective to the average consumer. In his article, “Assessing the Costs and Cost-Effectiveness of Genomic Sequencing”, Kurt Christensen analyzes a variety of ways in which genomic sequencing will lower medical costs. He notes that the cost for single genome testing is around one thousand dollars today but, the Shenzhen-based company, BGI, believes that they can drive the price down to around two hundred dollars per test. They plan to accomplish this through low labor and technology manufacturing costs in China along with large scale production (Shobert). These lower costs arise from cheap labor in manufacturing sweatshops throughout China. While the use of sweatshops may seem unethical to some it is important to note that many technology companies outsource manufacturing to create low production costs. This is done to increase revenue but it also makes genomic tests more affordable for the common consumer eventually. Christensen believes that genomic testing will lower costs by streamlining diagnostic processes through fewer tests and more effective prescription of medication. He notes that genomic testing informs on the selection and dosage of medication to increase efficiency, reduce costly and life threatening side effects, and avoid expensive treatments that are unlikely to work for every patient. Despite this, many researchers fear that the costs of data storage and multiple test requirements will force costs upward. This model is based on the idea that a single test costs around a thousand dollars. With the emergence of new companies overseas, such as BGI, the cost could drop to as low as two hundred dollars soon. This would allow doctors to conduct five tests for what they estimate the cost of one should be. This greatly reduces the fear of repeat tests forcing the bill up. While the data storage costs may be high to start, the growth of Silicon Valley data companies, such as the one purchased by BGI (Shubert), will create a larger market for genomic data entries. Another fear held is that insurance companies don’t want to cover the expensive test as a first-class procedure meaning the patient must pay for most of it out of pocket. In his video “The Future of Personalized Medicine”, Jacob Howard admits that only around 50% of insurance companies were willing to cover some of the cost for genomic tests. However, this statistic is also based on the one thousand dollars per test model. Assuming prices drop to two hundred, Insurance companies will be more willing to cover more genomic tests in the future. While this may not lower the costs immediately, it should not increase personal patient cost by the estimates most researchers suggest. 

Genomic testing and precision medicine will lead to more efficient diagnosis and treatments. With their more specific treatment plans for each individual patient, genomic testing will lead to more positive results to medications. In her article, “The Prospects for Personalized Medicine”, Shara Yurkiewicz identifies the use of pharmacogenomics to personalize each patient’s medication and dosage for their specific case. Yurkiewicz notes that the use of Dx-Rx methods, genetic test (Dx) followed by a prescription (Rx), will allow for precise targeting of specific genetic variation. Currently, about 10% of all FDA approved medication carries some sort of gene information per Yurkiewicz. This specifies the function and target of the drug itself. This is very useful when treating debilitating diseases such as cancer because drugs can be engineered which fight a specific mutated gene in each cancerous cell (McMullan). This not only reduces the cancer but also protects the surrounding healthy tissue from unnecessary damage. Another example of increased efficacy in treatment is with the discovery of GARD (genomic-adjusted radiation dose) scores. In her article, Pam Harrison outlines the emerging data on GARD scores and how each tumor reacts differently to radiation therapy. This data reveals that there is not one set intensity of radiation therapy that is the most effective. There is a wide range of ideal intensities that each correspond to an individual tumor (Harrison). Without genomic testing, it would be impossible to create such a precise treatment for each patient while also reducing the danger that accompanies treatments. 

Genomic testing and precision medicine also lead to overall healthier lifestyles by informing patients on what diseases they are prone to which allows them take precautionary measures to prevent those diseases. The goal of genomic testing isn’t just to create more precise diagnosis. According to Dawn McMullan’s article “What is Personalized Medicine”, personalized medicine is “as much preventing disease as it is tailoring treatment once it’s there.” This is significant because instead of waiting to get sick then be treated people can now figure out what conditions they might be susceptible to and take precautionary measures against that. This might be a new diet to reduce cholesterol or increased exercise to maintain an average bodyweight. People may already be motivated to do these things knowing their family history for certain conditions but, seeing firsthand the dangers the future may hold might encourage others to pursue a healthier lifestyle. As it was mentioned before, precision medicine is most known for “applying the right drug to the right patient at the right time” (Weiss) but that isn’t the whole goal. Doctors would prefer patients to have a healthy lifestyle and prevent diseases within their control (Weiss). Precision medicine has the power to detect more than simple genetic predispositions. Precision medicine can identify more serious afflictions such as cancer or heart disease as well (Capolla). While limited, these conditions also have precautionary treatments to lower the severity of the disease or aid in curing it. This can range from taking medication to reduce the effect of the disease or even avoiding situations that could trigger a certain condition (Weiss). The extent to which precision medicine and genomic testing can aid in maintaining a healthy lifestyle and maximizing one’s personal heath reaches into every aspect of modern medicine. 

The best way to fix the medical system by streamlining the diagnostic process is by training current genomic specialists who will lay the groundwork and set up a successful transition to the use of genomic sequencing. Some professions that would be useful in the consolidation process include molecular genetic pathology, clinical molecular genetics, and biochemical genetics according to Heather Mason-Suares, a co-author on the medical article Training the Future Leaders in Personalized Medicine. These individuals will also need basic management and teaching skills in order to become a leader of the integration process of precision medicine and genomic testing into current medical systems. The article also notes that a two-year residency set up by the American Board of Medical Genetics and Genomics (ABMGG) provides individuals from genetic backgrounds in medicine with vital skills that are necessary to aid in the transition to a more personalized healthcare system. These skills include the ability to “diagnose and treat individuals with genetic disorders as well as to provide consultations for other specialists.” (Mason-Suares) This ability to consult on other projects or cases is crucial to the growth of genomic testing and precision medicine because it allows current leaders of the movement to share their knowledge with other healthcare professionals thus, expanding the reach of the cause. Along with consulting is the ability to diagnose and treat genetic diseases. The ABMGG specifies this skill into more precise categories which include “understanding genetic tests and results, ability to develop differential diagnoses for constitutional and somatic genetic disorders, and effective communication, management, and professional skills.” (Mason-Suares) Every single one of these attributes are essential to be the spearhead for this movement. Not only must they be able to treat diseases using genomic methods and technology but they must also be able to spread the word about the change in healthcare. Essentially one must become a leader both in the sequencing labs, by putting together effective teams with a variety of specialties, and outside the workplace, by creating cost-effective measures and constantly advocating for precision medicine. As the ABMGG programs become more effective and widespread more practitioners will involve precision medicine groups into their teams either for consultations or for diagnosis support. This will allow patients to interact directly with genomic teams, cutting out the middle man of a doctor or health organization, which will eventually streamline the medical process for both the doctors and patients. 

The introduction of precision medicine and genomic testing will provide many benefits if it were to be implemented into our current medical system. While costs may not drop immediately they will eventually become reasonable for every consumer as mass production grows with the industry. The accuracy of genomic testing will also result in more precise diagnosis and treatments for nearly every individual in the future. As better treatments become available the medical system will be more focused on maintaining health instead of treating sicknesses which results in overall healthier lifestyles for each individual patient. Finally, the incorporation of genomic testing into current medical fields will streamline the process by including genetic practitioners into every aspect of medicine allowing them to interact directly with patients resulting in better and faster treatments. Our current healthcare system is slow and inefficient. Precision medicine want to turn that all around and let every piece fall into place.
