Introduction
In the modern world, many people can significantly benefit from genetic counseling. It is so because this phenomenon demonstrates how individuals and their families can be affected by genetic conditions. Here, attention is drawn to family health history because this information shows what genetic health-related illnesses are typical for these people. For example, it is possible to suppose that Jennifer consults a genetic counselor, and they identify that Jennifer’s mother and aunt had breast cancer, the two with genetic mutations. If I were this counselor, I would say that Jennifer would also be subject to the disease. In this case, genetic counseling is essential because it will provide information and support to the patient and her family (CDC, 2020a). Thus, the principal purpose of the essay is to give this counseling to Jennifer and explain how it is possible to avoid her negative reactions.
Health
Breast cancer is an essential disease in the United States, and thousands of women suffer from it annually. Since the disorder is present in Jennifer’s family health portrait, she is in a risk group. It is so because “3% of breast cancers (about 7,500 women per year)” are inherited (CDC, 2020b, para. 1). The disease is caused by mutations in “breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) genes” that should typically protect individuals from cancer (CDC, 2020b, para. 1). However, the mutations make the genes harm people and cause breast cancer. That is why it could be rational for Jennifer to take genetic testing to identify whether there are some issues with the genes.
Prevention
It is necessary to comment on some preventive measures irrespective of whether Jennifer’s genes have experienced the mutation. Firstly, breast cancer risk significantly decreases with the help of a balanced diet, physical activity, and the rejection of alcohol (Winters et al., 2017). Secondly, chemoprevention is another way of how to minimize the risk of disease. Winters et al. (2017) indicate that the use of specific drugs protects women from breast cancer but can expose them to venous thrombosis and other health problems. Thirdly, surgery also is an option when it comes to breast cancer prevention. However, it is necessary to discuss its use thoroughly with the patient. Thus, the latter two options are a potential source of Jennifer’s adverse reactions. Here, I will explain to the patient that the probability of chemoprevention side effects is minimized with the help of medical research. At the same time, surgery is an exceptional option in complicated situations. Thus, it can be sufficient to keep the diet and take physical exercise to prevent breast cancer.
Screening
The preventive measures above should be accompanied by some screening procedures. Since it has not been proved that Jennifer has gene mutations, it is rational to use a BRCA decision support tool. If the screening result is positive, I will subject the patient to further counseling. Winters et al. (2017) stipulate that “for women with known BRCA1 and BRCA2 gene mutations, the BOADICEA (Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm) model” estimates their breast cancer risk (p. 21). In this case, I will emphasize that these screening measures are essential to determine the severity of the disease and identify further steps.
Diagnostics
Even though the screening tools are useful, genetic testing is still a primary way to diagnose gene mutations and identify breast cancer risk for Jennifer. Since the patient is in a high-risk group because of her mother and aunt, it is recommended for her to take the testing. The test results will be beneficial when they are adequately and professionally interpreted. For example, if the test results are positive, I will explain to Jennifer how she can minimize the risk of getting cancer. Furthermore, if a breast cancer diagnosis accompanies the genetic mutations, appropriate treatment will be presented.
Prognostics
One can suggest that Jennifer will have an adverse reaction when she finds out the positive test result. In turn, I will draw specific attention to address her concerns. It is reasonable to mention that there are different opinions about the impact of the BRCA1 and BRCA2 mutations on patient survival. However, Godet and Gilkes (2017) argue that “BRCA mutation may be inadequate as an independent outcome predictor” (p. 7). This information should allow Jennifer to understand that her health condition deserves consideration, but it is not a tragedy. It will be further described what treatment options are available for Jennifer to live with the illness.
Selection of Treatment
Chemotherapy and surgery are the most effective ways of breast cancer treatment. According to Godet and Gilkes (2017), surgery is a suitable option for women with BRCA mutation because these patients “are more likely to develop a secondary cancer” (p. 7). That is why Jennifer is recommended to have a bilateral mastectomy. There is no doubt that the patient will be shocked by this news, but I will emphasize the fact that this step is necessary to save her life. In addition to surgery, it is rational to use chemotherapy. Godet and Gilkes (2017) stipulate that Jennifer can benefit from the application of taxanes, platinum agents, and PARP inhibitors. The researchers specify that “taxane-based therapy is potentially a better option” (Godet & Gilkes, 2017, p. 8). Thus, my principal task will be to explain to Jennifer that these treatment options are essential for her.
Monitoring of Treatment Effectiveness
When Jennifer agrees to undertake the prescribed treatment, it is not possible to state that she will defeat the disease. In this case, I will insist on the necessity to take regular screening procedures. Even though the bilateral mastectomy decreases the probability of a secondary cancer, it is still reasonable to monitor the patient to detect other health problems, if any. The treatment will be considered successful if Jennifer’s well-being is satisfactory, she gains weight, and her tests do not show any medical conditions. This information is significant in genetic counseling because it stipulates that Jennifer and her family should be patient to reach a positive outcome.
Conclusion
Genetic counseling is an essential phenomenon in the modern world because it provides patients with information concerning severe illnesses. Professional medical advice is sufficient to prepare a patient for treatment, eliminate any concerns, and contribute to better health outcomes. As for the case with Jennifer, her negative reactions are usually caused by fear. However, as a genetic counselor, I will do my best to address the patient’s concerns. It is possible to achieve this result with the help of a direct dialogue when Jennifer understands that the gene mutation is not a tragedy. Even though the recommended treatment implies some drawbacks, it is sufficient to save Jennifer’s life.
References
CDC. (2020a). Genetic counselling for hereditary breast and ovarian cancer. Web.
CDC. (2020b). The BRCA1 and BRCA2 genes. Web.
Godet, I., & Gilkes, D. M. (2017). BRCA1 and BRCA2 mutations and treatment strategies for breast cancer. Integrative Cancer Science and Therapeutics, 4(1), 1-17.
Kuchenbaecker, K. B., Hopper, J. L., Barnes, D. R., Phillips, K.-A., Mooji, T. M., Roos-Blom, M.-J., Jervis, S., van Leeuwen, F. E., Milne, R. L., Andrieu, N., Goldgar, D. E., Terry, M. B., Rookus, M. A., Easton, D. F., & Antoniou, A. C. (2017). Risk of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA, 317(23), 2402-2416.
Winters, S., Martin, C., Murphy, D., & Shokar, N. K. (2017). Chapter one: Breast cancer epidemiology, prevention, and screening. Progress in Molecular Biology and Translational Science, 161, 1-32.