Aspects of Genetic Counseling

Introduction

Genetic counseling is important in cases where patients need to know about their predisposition to certain diseases depending on their family medical history. In addition, genetic counseling is often used when a family plans a pregnancy. This approach makes it possible for a person to understand different risk factors that can be associated with the development of various genetically caused diseases (Kleinberger & Pollin, 2015). The purpose of this paper is to explain the reasons for genetic counseling in a specific client’s case, discuss the client’s possible reactions to the provided information, and present material to be given to the client during a counseling session.

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The Reason for Genetic Counseling

The Surgeon General’s Family History Tool makes it possible to identify diseases that can be inherited within a family according to certain hereditary patterns. The analysis of the basic information related to the family medical history is effective for identifying diseases that are triggered by genetic factors in order to determine possible risks for the next generations in the family (Shelton & Whitcomb, 2015). With reference to the results of the client’s family history tool, it is possible to state that type 1 diabetes (T1D) is inherited within the family. T1D was diagnosed in the client, his sister, and the paternal grandmother. The number of relatives having diabetes in this family indicates that the risk of developing T1D in subsequent generations is relatively high (Stein, Maloney, & Pollin, 2014). Therefore, the client and his family members need genetic counseling regarding the development of T1D and the factors that can influence this process.

Furthermore, information on the development of type 2 diabetes (T2D) should also be provided in order to contribute to preventing the progress of this disease. In spite of the fact that hypertension is also observed in some family members, genetic counseling regarding this disorder is not required as the genetic basis for high blood pressure is unknown, and environmental factors play a significant role in causing the disorder (Nussbaum, McInnes, & Willard, 2007; Stein et al., 2014). Thus the importance of support from a genetic counselor to clients with diabetes is more obvious: “in cases of confirmed T1DM, genetic risk counseling appropriately focuses on empiric risk based on family history” (Stein et al., 2014, p. 57). From this perspective, the members of the client’s family need genetic counseling regarding T1D and T2D in order for them to become aware of the hereditary nature of these disorders and of the risks and factors that can trigger the development of diabetes in cases where it was not previously observed.

The Patient’s Possible Reactions to Counseling

The problem is that the information provided in the context of genetic counseling is often by its nature traumatic for patients, and their reactions can be negative. After becoming aware of the results of genetic tests or receiving counseling on the development of diabetes, the client can experience uncertainty, fear, and even guilt (Samuel, Dheensa, Farsides, Fenwick, & Lucassen, 2017). These negative emotions as well as shock, stress, and panic are often associated with a lack of knowledge regarding the disorder. Associated reactions can include patients’ resistance to receiving assistance or more information, avoidance, anxiety, and even aggression directed towards the counselor.

To avoid these negative reactions, it is important to focus on empathetic and supportive communication with the patient. A genetic counselor should answer the patient’s questions, provide information on how to adapt social life in order to cope with the problem, give guides or brochures for study at home, and provide challenging information regarding the disorder and risk factors with a focus on approaches to treating the condition (Choi & Kim, 2014). The focus should be not only on informing the patient about the disorder and all associated risks but also on demonstrating what actual steps can be taken in order to monitor the disease and address potential triggers for its progression.

Giving Genetic Counseling

Health and Prevention

It is important to note that T1D is an insulin-dependent type of diabetes that influences health and the quality of everyday life. However, it is possible to avoid the negative effects of hyperglycemia on health by taking medications and insulin regularly (Choi & Kim, 2014). The development of T1D cannot be prevented because this disease is based on the complex of genetic and environmental factors, but it is possible to prevent the development of T2D by controlling weight and keeping to a healthy balanced diet.

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Screening and Diagnostics

In the case of diabetes, regular screening of family members at risk of developing the disorder is important in order to diagnose T1D or T2D in early stages. In this context, screening procedures and diagnostic testing are the same in most cases (Stein et al., 2014). Thus general glucose testing and urine testing can be used for screening annually or depending on the observation of such symptoms as increased thirst, frequent urination, fatigue, and weight loss (Pippitt, Li, & Gurgle, 2016). Still, detailed genetic testing is required in order to determine the type of diabetes and plan treatment.

Prognostics

With respect to prognostics, it should be noted that the development of diabetes can be associated with such risks as chronic hyperglycemia, kidney diseases, heart diseases, eye diseases, and kidney failure. However, these complications can be avoided if treatment appropriate for the patient’s case is selected (Pippitt et al., 2016). It is important to note that the recurrence risks of T1D are high for future generations, and regular screening is recommended. The difference in causes and clinical courses of T1D and T2D should be emphasized because T1D is usually a more severe disorder and is associated with a greater range of complications in comparison to T2D.

Treatment Selection and Monitoring

The selection of effective treatment depends on diagnostic and genetic testing. These tests are important to determine the actual type of diabetes observed in a person. Depending on the severity of T1D, it is possible to implement insulin-based therapies combined with medications that are efficient enough to improve the quality of life and prevent complications. Therapies for T2D are usually based on taking medications, keeping to a diet, and exercising (Stein et al., 2014). Appropriate monitoring of treatment is required on a regular basis, and testing periods are determined depending on the severity of the disorder and risk factors (Pippitt et al., 2016). Regular examinations of patients’ eyes, kidneys, and feet are also required, as well as tests for microalbuminuria. These tests are routine in their nature (Nussbaum et al., 2007). An additional plan for diagnosing and monitoring the disorder should be proposed for women who are pregnant or who are planning on pregnancy in order to eliminate all possible risks to the child.

Conclusion

Genetic counseling is important in cases where patients suffer from diseases that are inherited genetically or when family members are at risk of developing such disorders. Patients receive all required information about the condition during genetic counseling sessions. As a result, they can improve treatment and the overall quality of life while minimizing factors that can cause further development of a disease. In this paper, the case of diabetes has been discussed with a focus on the reasons for providing genetic counseling to the patient and the patient’s family, an analysis of possible reactions to counseling, and a discussion of information that can be provided during a session. Attention should be paid to informing the patient regarding the difference between T1D and T2D in terms of risks and treatment.

References

Choi, J., & Kim, H. (2014). Effectiveness of the interventions utilized in genetic counseling. Advances in Nursing, 2014, 1-19.

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Kleinberger, J. W., & Pollin, T. I. (2015). Personalized medicine in diabetes mellitus: Current opportunities and future prospects. Annals of the New York Academy of Sciences, 1346(1), 45-56.

Nussbaum, R. L., McInnes, R. R., & Willard, H. F. (2007). Thompson & Thompson genetics in medicine (6th ed.). Philadelphia, PA: Saunders Elsevier.

Pippitt, K., Li, M., & Gurgle, H. E. (2016). Diabetes mellitus: Screening and diagnosis. American Family Physician, 93(2), 103-109.

Samuel, G. N., Dheensa, S., Farsides, B., Fenwick, A., & Lucassen, A. (2017). Healthcare professionals’ and patients’ perspectives on consent to clinical genetic testing: Moving towards a more relational approach. BMC Medical Ethics, 18(1), 47-57.

Shelton, C. A., & Whitcomb, D. C. (2015). Evolving roles for physicians and genetic counselors in managing complex genetic disorders. Clinical and Translational Gastroenterology, 6(11), e124-e129.

Stein, S. A., Maloney, K. A., & Pollin, T. I. (2014). Genetic counseling for diabetes mellitus. Current Genetic Medicine Reports, 2(2), 56-67.

Aspects of Genetic Counseling
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