Ultimately, the goal of patient care is to “provide the most effective and efficient treatment possible to each patient” (Mayo Clinic). This goal has become more attainable than ever with the development of pharmacogenomics. Pharmacogenomics is the study of how all the genes (the genome) can influence patient responses to drugs (MLO Staff). Pharmacogenomics has now become the core element of precision/personalized medicine which is medicinal care designed to optimize efficiency and effectivity for people based on their genetic code. Being able to treat patients in the best way possible is what clinical care aims for; this means that the bridge between where we are currently at with clinical care and the goals for clinical care and maximized patient benefit is the development and integration of pharmacogenomics. So, it is imperative to analyze the extent of effect pharmacogenomics has on the way genetic testing is used in clinical care. This is a vital question to look at presently because of the significant amount of research and medical discoveries that have been made in recent years using genetic testing. Also with legislations like the Genetic Information Nondiscriminatory Act of 2008 being passed, pharmacogenomics and genetic testing is one step closer to being integrated into clinical care. It is crucial to look at what effects the discoveries and advancements can have on clinical care to determine whether the integration of pharmacogenomics should be promoted or not. Understanding pharmacogenomics affects the way genetic testing can be used clinically by reducing the cost of treatments for the patients as well as promoting the integration of personalized medicine. 

Efficacy Rates of standard drug treatments on patients with certain conditions. (Source: Trends in Molecular Medicine)Efficacy Rates of standard drug treatments on patients with certain conditions. (Source: Trends in Molecular Medicine)Lowering the medication costs for patients plays a huge role in the treatment of their condition(s). Mara Aspinall and Richard Hamermesh claim in their article on the promise of personalized medicine that “through the early identification and initiation of optimal treatments, personalized medicine has the potential to lower the overall cost of health care dramatically.” Although genetic diagnostic tests may seem expensive (some costing as much as $1000), the price pales in comparison to the potential benefits. In the case of breast cancer patients for example, the identification of the state (mutated or not) of the HER2 gene has the potential to save tens of thousands of dollars due to improper drug treatment (Aspinall & Hammermesh). The fact that a $400 genetic test could potentially result in tens of thousands of dollars in savings per patient shows how substantially genetic testing, when used clinically, can save patients money. Giving patients (unknowingly) medications which won’t benefit them is a huge financial problem. This problem doesn't only exist among cancer patients, but across patients of nearly all conditions. A study done by Brian Spear, Margo Heath-Chiozzi, and Jeffrey Huff on the clinical application of pharmacogenetics shows, based on the efficacy rates for the major drug treatments for many conditions, that the standard drug treatments for many of these conditions are very limiting. In this study analyzing the percentage of patients (with a certain condition) of whom the standard drug treatment for the condition was either ineffective or not completely effective, “at least 70% of patients who take the cardiovascular drugs known as ACE inhibitors and beta-blockers; nearly 40% of the people prescribed antidepressants; and at least 30% of both the patients given statins for high cholesterol and those given beta2-antagonists for asthma” (Spear et al) were not effectively treated with the standard drugs. It is evident from these statistics that there are a substantial number of patients who are given medication(s) that simply won’t effectively help them. Billions of dollars can be saved through the incorporation of genetic diagnostic testing to properly identify effective treatment options by reducing the treatment of patients with ineffective medications. 

Although the monetary price of treatment has shown to be lower with the use of genetic testing, some people argue that there are other potentially negative costs associated with pharmacogenomics and genetic testing. Some of these additional costs include confidentiality and privacy risks (Breckenridge et al). Questions about confidentiality and consent are likely to be raised with regards to clinical trials. With the development of pharmacogenomics being dependent on genetic research, consent becomes an important factor within confidentiality. Choosing whether to consent or not for the use of genetic information for research would require different storage systems for pharmacogenomic analysis as well as varying levels of anonymity (Breckenridge et al). This goes to show the level of complexity involved in the storing of genetic information. In his article on the ethical issues of pharmacogenomics, Dr. Peter Lipton talks about his similar stance on the issue, that as the usages of genetic information expand, it can have a greater effect on both the individuals and their family members, including “implications for other aspects of an individual’s health, such as susceptibility to disease” (Lipton). The amount of information that can be derived from a genetic test can be a lot more than patients may be willing to have (unknowingly) disclosed. It is because of these that the cost of genetic testing becomes higher than as previously mentioned. Even with these stated issues are plausible, there are legislations such as the Genetic Information Nondiscriminatory Act of 2008 that protects patients’ genetic information by prohibiting the use and disclosure of genetic information, primarily from insurance. This has promoted a greater level of confidentiality regarding a patient’s genetic information. There are also forms of consent for genetic testing that lay out the ways that a patient’s genetic information may be used. These forms show that the information can be used for genetic research, but will not be disclosed to other parties (Mayo Clinic). With these precautions in place to aid in protecting patients’ privacy and confidentiality of genetic information, it is evident that the negative costs of genetic testing for pharmacogenomics use are low, especially in comparison to the other cost benefits as previously mentioned. 

Another effect of genetic testing, through personalized medication, is that it can significantly increase a patient’s medication adherence. Poor medication adherence is a well-known problem, particularly in patients with chronic conditions, resulting in greater morbidity and mortality rates. It is estimated by Doctors Susanne Haga and Nancy LaPointe that “about one-third to one-half of all patients in the United States do not take their medications as directed by their health-care providers.” This is a frightening statistic! With that large of a percentage of people not taking their medications as directed, it is no surprise that there are so many people that aren’t being effectively treated in clinical care. Several studies have shown that genetic variations can lead to patients having increased risks for side-affects and medication intolerability; both of which can lead to discontinuation of treatment and noncompliance. One of the studies that showed this data was conducted by Kathryn Gardner, Francis Brennan, Rachel Scott, and Jay Lombard. They took the time to analyze the impact that genetically testing patients and individually informing them of the medication that is best personalized for their condition had on the confidence and comfortability that those patients had with the medications they were prescribed (Gardner et al). They were able to conclude that “genetic testing can allow clinicians to determine which patients are likely to suffer from adverse effects and medication intolerability and provide them with alternative treatment plans resulting in improved patient adherence” (Gardner et al). These findings demonstrate the clinical utility of pharmacogenomics testing by showing the substantial difference in medication adherence in patients who received personalized medication after genetic testing. With research showing that treating patients with personalized medicine through pharmacogenomics testing is very likely to improve the medication adherence of the patients, it is clear that integrating pharmacogenomics testing into clinical care should be encouraged. 

Another reason that the integration of personalized medicine through genetic testing is less supported is because of the procedural steps and evidence required for pharmacogenomics tests to be approved for clinical use. This is an important aspect to acknowledge because if it is nearly impossible to approve of these genetic indicator tests, then personalized medicine will be that much less likely to be integrated into clinical care. In her article on the changes necessary to clinically benefit from pharmacogenomics, Doctor Barbara Evans says that there has been frustration with the slow pace at which basic pharmacogenomics discoveries are being translated into clinically useful products and treatment methods. She credits this frustratingly slow process to two things:

“First, it is not sufficient that any new clinical test simply show a significant association with outcomes. A new test should provide predictive capability that augments our existing ability to predict outcome. Second, pharmacogenomic tests are designed to predict the necessity of a change in dose or in drug If no other drug is available, or no alternative dose has been studied, then the test is unlikely to be useful.” (Evans)

Even though many pharmacogenomics tests have the type of evidence of their effectiveness and ability to result in a way to analyze a patient’s best treatment option as previously mentioned, “the evaluation of these tests, and the development of standards for levels of evidence required to demonstrate the validity of the test, are especially complicated when the meaning of a given genetic association may be poorly understood or change over time” (Pharmacogenetic Tests 29). Because of this immense complication for the FDA to approve of standards by which to regulate the effectiveness and safety of future pharmacogenomic tests, it becomes progressively harder to integrate personalized medicine into clinical care. However, even with a seemingly impossible to overcome approval barrier, “the FDA has approved modifications to 58 drug labels that now contain pharmacogenetics information” (Flockhart et al). In addition, there are recently developed tests that detect mutations of specific markers (like the HER2 receptor) for tumor expression that are now in widespread use. So, although establishing the level of evidence of clinical benefit required for approval remains a considerable challenge, it is now reasonable to analyze the tests that are currently available clinically to identify the context that they either have value or are limited. This information would help to identify common elements that allow for widespread clinical utility as well as improve upon the ability to generate new pharmacogenomics tests. By understanding the different barriers that have been overcome and progressing past them with further regulation development, the clinical integration of personalized medicine into can be promoted and patient care can continue to benefit. 

Also, the use of genetic testing clinically, through personalized medicine, can save lives by preventing adverse drug reactions as well as treating patients with time sensitive conditions. Adverse drug reactions refer to the unwanted or dangerous affects that a drug may have. Studies show that genetic factors are likely to be a major component to adverse drug events, “contributing to between 25% and 50% of inappropriate drug responses” (Spear). One drug that is responsible for a large number of adverse drug events is Warfarin, an anticoagulant medication that is associated with the highest rates of adverse drug affects and emergency room visits of any single drug. More than 2 million patients start using this drug every year, and about 20% of them are hospitalized within the first six months because of over-anticoagulation caused by improper dosage. Studies have demonstrated that there is a relationship between the metabolizing of Warfarin and the CYP2C9 gene (Spear). In a recent nationwide pharmacogenomics study on warfarin, it was concluded that pharmacogenomics testing can have a significant impact on the number of patients who have adverse drug effects while taking the medication. The findings show that “hospitalization rates were 30% lower when pharmacogenomics testing was used” (Kitzmiller). These studies show how adverse drug responses can be associated with patient’s genetic variations, and that through pharmacogenomics testing, patients may be more likely to receive an individualized medication therapy that will safely benefit them. 

Finally, pharmacogenomic testing can save the lives of patients who are in drastic need of finding the most effective treatment as soon as possible. Patients with acute conditions, like lung cancer, don't have the luxury of extra time that trial-and-error treatments often require. Only 43% of all patients with lung cancer survive one year after diagnosis (Aspinall & Hamermesh). So clearly, the time required to find an effective treatment is vitally important. The standard first treatment for lung cancer is chemotherapy, however for patients who have a mutation in their EGFR gene, there is a safer and much more effective treatment option resulting in “73% of patients being alive after 12 months, compared to the 15% who followed the traditional chemotherapy protocol” (Aspinall & Hammermesh). By individually treating patients based on their genetic variability and the resulting analysis of the best medication options, patients can be given the most effective and efficient treatments available which in many cases may save their lives. By looking back to the graph of the efficacy rates for standard treatments done in Spear’s study, it is evident that there are many conditions that standard treatments simply don't have the desired effect (Spear et al). Similar to the treatment of lung cancer, for many of the conditions mentioned, such as asthma, diabetes, osteoporosis, and schizophrenia, giving patients targeted therapy guided by pharmacogenomic testing has the potential to increase the likelihood of an effective treatment being given. Through pharmacogenomic testing, the most effective treatment is more likely to be found for a patient and result in the improvement of their medical care.

Pharmacogenomics has the ability to open endless doors of opportunity for the future of medical science. By looking at how genetic testing can lower treatment costs for patients as well as promote personalized medicine by improving medication adherence, decreasing the number of adverse drug events, and increasing medication effectiveness, it is evident that incorporating pharmacogenomic testing into clinical care will substantially improve patient care by allowing medical professionals to provide each patient with the most effective and efficient treatment possible. It is essential for people to understand the utility of genetic testing for pharmacogenomics purposes so that the negative stigma of genetic testing within society can be overcome for the greater good of all through the improvement of medical care. This is crucial because in the end it is the patient’s participation in pharmacogenetics testing and research that allows for the field to grow. Without patient approval, the development of pharmacogenomics would be stunted or even stopped, and the advantages in patient care associated with pharmacogenomics would disappear. By clinically integrating pharmacogenomics and personalized medicine into the medical field, the aspirations for patient care become one step closer to a reality.
