With recent advances in the field of genomics, the practice of genetic counseling became a critical part of the patient’s comprehensive health assessment. By identifying one’s genetic predispositions and learning how to address them, individuals may improve their quality of life and prevent diagnostics of hereditary diseases in the late stages. This paper focuses on genetic counseling for breast cancer, addressing critical elements of the practice, reasons for referral, and possible patient reactions, based on the Surgeon’s General Family History Tool.
A 35-year-old white married woman was advised to attend genetic counseling after an annual check-up, wherein a general practitioner collected information on the female’s family history. The patient self-reported that her mother was recently diagnosed with breast cancer and her maternal grandmother died from the related malignant tumor. At the same time, she denied being previously diagnosed with cancer and claimed that her overall health condition is satisfactory, referring to the absence of pain and any worrisome symptoms. To assess her genetic predisposition to the disease, a BRCA1/2 genetic test was conducted.
Results indicated mutations in the aforementioned gene, which signifies a high risk of developing breast cancer (Easton et al., 2015). Researchers further elaborated that the risk increases with the number of blood-related family members affected by the illness (Easton et al., 2015). To obtain detailed information about her current health status, the woman arranged an appointment with a local genetic counselor.
During genetic counseling, a series of questions need to be addressed. First, the patient should be informed about the indicated genetic mutations and their significance for the further course of healthcare. According to Agnese and Pollock (2016), BRCA 1/2 mutations account for 10% of hereditary cancers; however, careful screening and early diagnosis allow to prevent the rapid development of the disease. As suggested by Peshkin (2019), in the case of the aforementioned abnormalities, the female is recommended to have an annual clinical breast examination and mammography once a year.
Furthermore, since the woman is categorized as high risk for the history of the disease in the immediate family members, there might be a need for an annual MRI, risk-reducing surgery, and chemoprevention (Agnese & Pollock, 2016). General cancer-preventative strategies, such as a healthy diet, dosed exercises, abstaining from smoking, drugs, overconsumption of alcohol, and limited exposure to direct sun rays, also apply in the situation.
The process of breast cancer diagnostics is closely related to the screening process. Prophylactic measures outlined earlier do not only allow practitioners to evaluate possible changes in the patient’s condition but also show the first signs of the disease. As noted by Miller et al. (2016), the prognostics of treating breast cancer are relatively high in the US, with an average five-year survival rate of 89%, and 83% for ten years. The prognostics are mostly influenced by the stage, the grade of the tumor, results of the histology, HER2, and current hormonal status. For example, when diagnosed at a localized stage (with no metastases found), the 5-year survival rate is nearly 99% (Miller et al., 2016). The key to a high survival rate lays in the valid selection of treatment and careful following of the clinical guidelines.
When choosing a treatment for breast cancer, healthcare professionals take into account the presence of genetic mutations, age of the patient, tumor grade, stage, and results of the preliminary laboratory tests. As emphasized by Tung and Garber (2018), females with abnormalities in BRCA 1/2 respond better to platinum-based chemotherapy, inhibitors of PARP, and ADP-ribose. Miller et al. (2016) also discussed different types of surgeries, dependent on the nature of breast cancer.
In the case of early diagnosis (before 40), the woman is recommended to undergo a mastectomy. Empirical evidence shows that breast-conserving surgeries (or partial mastectomy) result in the recidivism of the disease at a young age more frequently than in the elderly (Miller et al., 2016). Apart from surgery, chemotherapy, radiation, and hormonal therapy are prescribed, dependent on the individual health record.
The effectiveness of the aforementioned treatment is assessed with similar methods as used in screening, including MRI, mammography, and clinical breast examination. Besides, as suggested by Miller et al. (2016), patients are regularly monitored for concomitant diseases. Possible health complications from surgery, radiation, and chemotherapy include pulmonary dysfunction, infertility, and cardiac abnormalities (Miller et al., 2016). Satisfactory results on the MRI and mammography, absence of pain, and concomitant illnesses demonstrate the effectiveness of the selected course of treatment.
It is critical to remember that the patient may experience a variety of reactions to the suggested genetic counseling, including shock, denial, frustration, sarcasm, gratitude, and others. In addition to providing complete information about the female’s genetic predisposition to breast cancer, the counselor should be qualified to address the individual’s mixed emotions. Bredart et al. (2018) highlighted that patient-centered care in breast cancer teaches healthcare professionals to give individuals enough time to process information about their new health status. To better cope with the debilitative emotions, women may be advised to join support groups and seek therapy.
Frequently, genetic counselors extend the discussion of the disease to two sessions, providing patients with time and supportive resources to avoid negativity. The key to one’s positive reaction often lays in the provider’s attitude. A tendency to exaggerate health risks, intimidation, emotional pressure, and lack of assistance – all together lead to the female’s distress.
Ultimately, genetic counseling is an essential step in the patient’s evaluation of hereditary predisposition to breast cancer. During the session, healthcare professionals should provide information about one’s current health status, prevention, screening, prognostics, and treatment selection. Apart from the shared data, critical attention should be paid to the practitioner’s attitude. The combination of professionalism, calm, and empathy might help to achieve the most productive results.
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