DNP 810 Genetic Counseling

Sample Answer

Genetic counseling refers to a patient-centered communication process that enables individuals to understand, become accustomed, and adjust to the medical and psychosocial implications of genetic contributions to illness. Genetic counselors assess a person’s risk of a genetic-related disorder, prepare the person for genetic testing, convey the results, and assist in developing the management plan for the patient’s genetic disorder (Patch & Middleton, 2018).

Besides, they prepare and support patients to communicate with their relatives at risk of a genetic condition. The purpose of this paper is to discuss about a patient case that might benefit from genetic counseling.
Reason For The Genetic Counseling

A 48-year-old female client is on genetic counseling based on her family health portrait findings. According to her family medical history, the patient’s mother succumbed to Breast Cancer at 70 years after battling the disease for seven years. She was diagnosed with Breast cancer at 63 years. In addition, she has two relatives from her maternal side who were diagnosed with breast cancer, one at 58 years and the other at 60 years. Her maternal grandmother died from ovarian cancer 17 years ago.

The client read in a health magazine that individuals whose close relatives have a history of breast cancer have a higher risk of developing the disorder than those with no positive family history. Therefore, genetic counseling is necessary to assess the patient’s risk for breast cancer and prepare her for predictive and diagnostic screening of the disease.

Possible Reactions The Patient May Have To the Counseling

The client will be informed during genetic counseling that she has a high risk of developing breast cancer in her 50s based on her family history. Similarly, her siblings and children are at risk of developing the disorder. After learning about her high risk of developing breast cancer, the patient might get anxious and terrified.

Consequently, she may have mixed reactions to having a genetic test due to the fear of positive results (Patch & Middleton, 2018). In addition, the patient might get drenched in sorrow when she learns that she might suffer like her mother and even have a premature death.

The negative reactions can be avoided by being sensitive to the concept of the point at which the client will be most able to understand and absorb the genetic information being provided.

Health

Breast cancer is the second most common cause of cancer death in women after lung cancer. In the early stage, breast cancer mostly has no symptoms like breast pain or discomfort.

Symptoms that should make one suspect breast cancer include breast skin changes, skin dimpling, changes in breast size or shape, blood-stained nipple discharge in a single duct, nipple inversion, and an axillary lump (Sauter, 2018). Breast cancer lowers the quality of life and results in various health complications, often in cases where cancer spreads to other body organs.

Prevention

Breast cancer can be prevented through lifestyle modification and eliminating modifiable risk factors for breast cancer. Obesity increases the risk of breast cancer, and thus one can lower the risk by maintaining a healthy weight through healthy dietary habits and regular physical exercises (Sauter, 2018).

Reducing alcohol consumption and smoking cessation also reduces the risk of breast cancer. In addition, hormone replacement therapy (HRT) is a risk factor, and thus women with a family history of breast cancer should stop HRT.

Screening

Breast cancer is screened through mammography, which is the only available method for early detection of non-palpable breast cancer. Mammography is considered a sensitive screening method for breast cancer. It is unique based on its ability to shoe preclinical lesions like masses too small to be palpated manually (Song et al., 2019).

It is important to note that traditional film mammography is progressively being replaced by digital mammography, which has the advantage of reading, filing, and transmitting mammograms electronically. Besides, studies demonstrate that digital mammography benefits females with dense breasts, like those below 50 years (Song et al., 2019).

Screening is recommended in healthy women 50-74 years with no signs of breast cancer. However, it is recommended for women 40-49 years with an average risk for breast cancer.

Diagnostics

Diagnostics for breast cancer include imaging and laboratory tests. Imaging tests include Ultrasonography and Magnetic resonance imaging (MRI). Ultrasonography of the breast is mostly used as an additional test to refine findings on mammography.

For example, if a mammogram shows a lesion, the ultrasonography assists in distinguishing a fluid-filled cyst from a solid mass (He et al., 2020). Besides, mammography and ultrasound are usually more effective in detecting cancers in females with dense breasts. MRI is used to visualize better suspicious areas found in a mammogram or for females with dense breasts.

The MRI helps to establish the actual size of the cancerous mass and identify any other cancers in the breast. Furthermore, a breast cancer diagnosis is based on a pathologic exam of tissue from the suspected cancerous mass (He et al., 2020). Lab tests like pathologic study of the lymph nodes are used to detect if the breast cancer has metastasized.

Prognostics

The long-term prognosis depends on the stage of the breast tumor. The five-year survival rate in breast cancer depends on the cancer stage, with localized and regional breast cancer having the highest survival rate and metastasized having the lowest (Łukasiewicz et al., 2021).

Poor prognosis in breast cancer is associated with factors like younger age (20s and 30s), race (Blacks), larger primary tumor, high-grade tumor, absence of estrogen and progesterone receptors, and presence of BRCA gene mutations.

Selection of Treatment

The treatment of breast cancer includes surgery, radiation therapy, and chemotherapy. Treatment is selected based on the tumor and patient factors. However, surgery is increasingly being recommended, and it involves early referral to a plastic surgeon to remove the cancer tumor and reconstruct the breast (Łukasiewicz et al., 2021).

Besides, breast-conserving surgery combined with radiation therapy has the advantage of having less-extensive surgery and maintaining the breasts.
Monitoring of Treatment Effectiveness. Patients with a history of breast cancer surgery still require mammography screening. If a person had a total mastectomy, the other breast needs annual follow-up since there is a high risk of cancer developing in the other breast.

Besides, if the patient had a partial mastectomy, subcutaneous mastectomy, or lumpectomy, then the breast needs follow-up mammography (Łukasiewicz et al., 2021). The first mammogram is performed six months after surgery to offer a baseline for the new postoperative and post-radiation changes. After that, mammography can be carried out every 6-12 months for screening and follow-up.

Conclusion

A family history of breast cancer, especially among first-degree relatives, increases a person’s risk of developing the disease. Screening is recommended in females aged 40-49 years with an average risk of breast cancer and in healthy females 50-74 years. Mammography is the most recommended method for breast cancer screening, with digital mammography being beneficial in females with dense breasts. Treatment options include surgery, radiotherapy, and chemotherapy.

References

• He, Z., Chen, Z., Tan, M., Elingarami, S., Liu, Y., Li, T., Deng, Y., He, N., Li, S., Fu, J., & Li, W. (2020). A review on methods for diagnosis of breast cancer cells and tissues. Cell proliferation, 53(7), e12822. https //doi.org/10.1111/cpr.12822
  
• Łukasiewicz, S., Czeczelewski, M., Forma, A., Baj, J., Sitarz, R., & Stanisławek, A. (2021). Breast Cancer-Epidemiology, Risk Factors, Classification, Prognostic Markers, and Current Treatment Strategies-An Updated Review. Cancers, 13(17), 4287. https //doi.org/10.3390/cancers13174287
  
• Patch, C., & Middleton, A. (2018). Genetic counseling in the era of genomic medicine. British medical bulletin, 126(1), 27–36. https //doi.org/10.1093/bmb/ldy008
  
• Sauter, E. R. (2018). Breast Cancer Prevention Current Approaches and Future Directions. European journal of breast health, 14(2), 64–71. https //doi.org/10.5152/ejbh.2018.3978
  
• Song, S. Y., Park, B., Hong, S., Kim, M. J., Lee, E. H., & Jun, J. K. (2019). Comparison of Digital and Screen-Film Mammography for Breast-Cancer Screening A Systematic Review and Meta-Analysis. Journal of breast cancer, 22(2), 311–325. https //doi.org/10.4048/jbc.2019.22.e24