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Pharmacogenetics: Brief Analysis

Abstract

This concept analysis paper dwells upon the concept of pharmacogenetics that is the study of people’s genetically determined responses to some drugs. Pharmacogenetics is mainly employed when treating cancer, cardiovascular, and mental disorders, as well as managing pain. The primary use of these tests aims at the provision of patient-centered care to people through the prescription of the most effective drugs.

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However, pharmacogenetics also has the potential to identify heritable characteristics of diverse populations that have an impact on the effectiveness of drugs. A brief literature review shows that pharmacogenetics is associated with certain controversy since only a small proportion of drugs are subject to testing, which makes the practice rather irrelevant. The paper ends with a description of the model, similar, borderline, and contrary cases.

Introduction

Patient-centered care is one of the priorities of modern healthcare professionals. Practitioners try to make sure that every patient will benefit from the recommended treatment. Pharmacogenetics is one of the strategies to ensure the achievement of this goal. This type of research dates back to the late 1950s when Arno Motulsky implemented a study on the effects of the use of certain drugs and claimed that these features were heritable (Drew, 2016). At present, pharmacogenetics is still associated with certain controversy as practitioners and researchers have rather different views on its benefits and relevance. The present paper includes a brief analysis of the concept of pharmacogenetics.

Concept Identification

Pharmacogenetics is often employed in diverse clinical settings and is utilized to address various health issues. The concept does not have a single definition, but the existing definitions focus on similar aspects. For instance, Pittenger and Bloch (2014) refer to pharmacogenetics as “the possibility of using individual genetic data to predict drug response and/or side effects, and thus meaningfully guide treatment choices” (p. 385).

Caudle et al. (2016) note that pharmacogenetics enables practitioners to make effective prescribing decisions based on patients’ heritable traits. It is noteworthy that the concept is widely used in pain management and the treatment of such conditions as cancer, mental, and cardiovascular disorders. Physicians, nurses, and other healthcare professionals often use these tests to ensure the development of the most appropriate treatment plan. Pharmacogenetic tests are instrumental in identifying possible hazards and the most efficient strategies for treating specific diseases.

Use of the Concept per a Thorough Literature Review

As mentioned above, pharmacogenetics has been used in numerous areas, but it is specifically beneficial in treating cancer and pain management. Hertz and Rae (2015) review the current research related to the use of pharmacogenetics in cancer research and claim that the study of tumors and patient’s genomes can be instrumental in the development of effective and patient-centered treatment plans. Programs associated with the utilization of pharmacogenetic tests also receive researchers’ attention as their effectiveness and peculiarities are analyzed (Dunnenberger et al., 2015). The focus is often on several healthcare facilities rather than a single clinic.

Researchers also explore diverse methods and approaches to test genomes’ reactions to different drugs. For example, it is found that membrane transporters tend to play an important part in mediating the distribution and excretions of numerous drugs (Mooij et al., 2015). At the same time, it has been acknowledged that there is still insufficient standardization, which hinders the use of pharmacogenetics in the clinical setting (Luzum et al., 2017). It is stressed that the development of recommendations and guidelines regarding the peculiarities of tests and their interpretation will facilitate effective decision-making. The ultimate goal is to develop nationwide and international standards that would ensure the use of well-established and properly researched methods and terms.

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Research also unveils some limitations associated with the utilization of pharmacogenetics. Somogyi, Coller, and Barratt (2014) emphasize that opioid genetics requires further investigation as numerous addiction and pain phenotype factors have an impact on the healing process. Picard et al. (2017) add that the relevance of many pharmacogenetics tests is rather questionable as due to scarce information provided on drug labels, it is unclear whether these tests may be needed. The researchers also suggest a framework for the categorization of medications in terms of the potential need to implement this or that pharmacogenetics test.

Key Concept Characteristics or Attributes

When considering the concept of pharmacogenetics, it is necessary to concentrate on several key characteristics. One of the primary features of the concept under analysis is the focus on the reactions of cells to certain inducers (Mackenzie, Somogyi, & Miners, 2017). Pharmacogenetics tests measure the peculiarities of cells’ reactions (with the focus on metabolism) to certain elements. The dosage and the duration of treatment are identified based on the obtained data (Pittenger & Bloch, 2014).

One of the primary traits of pharmacogenetics is its involvement in the decision-making process as these tests enabled healthcare professionals to predict the outcomes of the use of specific drugs. Another characteristic of pharmacogenetics is its primary utilization in treatment. At that, the utilization of pharmacogenetic tests in medication development is becoming more frequent. Furthermore, such tests mainly involve certain drugs and specific patients’ reactions. The patient-centered approach is the major goal of these clinical procedures.

Concept Antecedents and Consequences

The central consequence of pharmacogenetics is the provision of patient-centered care. The outcomes of pharmacogenetic tests are the description of the potential reactions of an organism to certain drugs and components (Hertz & Rae, 2015). Another consequence is the identification of possible reactions in specific populations (for example, ethnic groups) or the peculiarities of some features of drugs (Somogyi et al., 2014; Mooij et al., 2015). The development of new drugs and types of medication can also be seen as a consequence of pharmacogenetics as researchers focus on specific traits of drugs and improve them or change to adjust to specifics of diverse groups.

The antecedents of pharmacogenetics include patients’ diagnoses, the development of treatment plans, and blood tests. A person’s health status is the primary antecedent of the concept as pharmacogenetics is mainly used in several cases including but not confined to cancer, cardiovascular and mental disorders, as well as pain management (Caudle et al., 2016). The development of the treatment plan is the following stage that implies the implementation of some tests to ensure the provision of the most appropriate and effective care.

Concept Analysis Model

This concept analysis includes a description of a model, related, borderline, and contrary case. This approach ensures the illustration of exact properties of the concepts, as well as the cases that do not involve the concept under consideration (McKenna, Pajnkihar, & Murphy, 2014). The model case unveils the features of the concept, its antecedents, and its consequences. A similar case is characterized by some of the traits of the concept in question, while the contrary case does not include any consequences or antecedents of the concept. The borderline case often serves as a representation of the concept in the metaphoric meaning.

Model Cases

The model case is the case of John, who is diagnosed with cancer and who is recommended to take a pharmacogenetic test to ensure the effectiveness of a drug. The patient undergoes the necessary procedures and, based on the results, the physician develops a treatment plan with a clear description of the dosage and duration of the use of the drug. In this case, antecedents and consequences of the concept are apparent.

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A similar case can be the case of a woman who wants to take a test to learn about the risks of developing cancer. After taking the pharmacogenetic and some other tests, she is diagnosed with cancer. The results of the pharmacogenetic tests are utilized to choose the most appropriate drug and the most effective dosage and treatment duration. This is a similar case since the antecedent was different, while the consequence was the same as in the case described above.

The contrary case will be the case of a patient who wants to identify his chances of developing cancer that appear to below. He does additional tests and finds out that he is healthy, so no cancer treatment is necessary. In this case, no antecedents or consequences can be found, which makes it a contrary case. The borderline case is associated with drug research as patients may take the pharmacogenetic test during a study that aims at exploring the peculiarities of some ethnic groups’ reactions to a specific drug type. This borderline case reveals some general features of the concept.

References

Caudle, K. E., Dunnenberger, H. M., Freimuth, R. R., Peterson, J. F., Burlison, J. D., Whirl-Carrillo, M., … Hoffman, J. M. (2016). Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC). Genetics in Medicine, 19(2), 215-223. Web.

Drew, L. (2016). Pharmacogenetics: The right drug for you. Nature, 537, S60-S62.

Dunnenberger, H. M., Crews, K. R., Hoffman, J. M., Caudle, K. E., Broeckel, U., Howard, S. C., … Relling, M. V. (2015). Preemptive clinical pharmacogenetics implementation: Current programs in five US medical centers. Annual Review of Pharmacology and Toxicology, 55(1), 89-106. Web.

Hertz, D. L., & Rae, J. (2015). Pharmacogenetics of cancer drugs. Annual Review of Medicine, 66(1), 65-81. Web.

Luzum, J. A., Pakyz, R. E., Elsey, A. R., Haidar, C. E., Peterson, J. F., Whirl-Carrillo, M., … Freimuth, R. R. (2017). The pharmacogenomics research network translational pharmacogenetics program: Outcomes and metrics of pharmacogenetic implementations across diverse healthcare systems. Clinical Pharmacology & Therapeutics, 102(3), 502-510. Web.

Mackenzie, P. I., Somogyi, A. A., & Miners, J. O. (2017). Advances in drug metabolism and pharmacogenetics research in Australia. Pharmacological Research, 116, 7-19. Web.

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McKenna, H., Pajnkihar, M., & Murphy, F. (2014). Fundamentals of nursing models, theories and practice. Hoboken, NJ: John Wiley & Sons.

Mooij, M. G., Nies, A. T., Knibbe, C. A. J., Schaeffeler, E., Tibboel, D., Schwab, M., & de Wildt, S. N. (2015). Development of human membrane transporters: Drug disposition and pharmacogenetics. Clinical Pharmacokinetics, 55(5), 507-524. Web.

Picard, N., Boyer, J. C., Etienne-Grimaldi, M. C., Barin-Le Guellec, C., Thomas, F., & Loriot, M. A. (2017). Pharmacogenetics-based personalized therapy: Levels of evidence and recommendations from the French Network of Pharmacogenetics (RNPGx). Therapies, 72(2), 185-192. Web.

Pittenger, C., & Bloch, M. H. (2014). Pharmacological treatment of obsessive-compulsive disorder. In W. K. Goodman (Eds.), Obsessive compulsive and related disorders, an issue of psychiatric clinics of North America (pp. 375-392). Philadelphia, PA: Elsevier Health Sciences.

Somogyi, A. A., Coller, J. K., & Barratt, D. T. (2014). Pharmacogenetics of opioid response. Clinical Pharmacology & Therapeutics, 97(2), 125-127. Web.

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StudyCorgi. (2021, October 17). Pharmacogenetics: Brief Analysis. Retrieved from https://studycorgi.com/pharmacogenetics-brief-analysis/

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1. StudyCorgi. "Pharmacogenetics: Brief Analysis." October 17, 2021. https://studycorgi.com/pharmacogenetics-brief-analysis/.


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