BRCA 1/2 is considered one of the most reliable genetics testings to identify genetic mutations, which signify an increased risk of developing breast cancer. Notwithstanding this fact, a majority of health insurance companies reject to reimburse care based on genetics. For instance, Medicare declares that the company will not cover genetics testing for the women unaffected by cancer previously, explaining that genetic predisposition does not guarantee the development of the disease (“BRCA Mutations,” 2018). This paper provides a brief overview of the BRCA 1/2’s impact on the patient’s health, methods of prevention, screening, diagnostics, and choice of treatment.
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With minimum risks, the BRCA testing helps healthcare professionals to determine the patient’s predisposition to cancer, significantly increasing the chance of prevention and early diagnosis. As explained by Godet and Gilkes (2017), the method allows predicting the individual’s susceptibility to breast tumors through DNA sequencing, through which the mutations in BRCA 1 and 2 genes can be discovered.
While mutations in the gene alone do not automatically signify the development of the disease, they inform the practitioners about the risks associated. According to Agnese and Pollock (2016), significant implications of the testing in terms of prevention and diagnostics include recommendations for regular mammography and annual check-ups. In some cases, patients are referred for specific screening, such as MRI, risk-reducing surgery, and chemoprevention, dependent on the family’s history (Agnese & Pollock, 2016). Aware of the inherited predisposition, individuals can make informed choices in their career and private life.
Apart from testing for genetic mutations, BRCA 1/2 helps healthcare professionals to choose effective treatment. Tung and Garber (2018) suggested that patients with harmful mutations in the BRCA 1/2 genes react better to platinum-based chemotherapy, inhibitors of ADP-ribose, and PARP. Treatments appear highly effective since the aforementioned methods affect the malignant tumor by restraining DNA repair pathways (Tung & Garber, 2018). In other words, the treatment directly influences the root cause of the disease in addition to reducing pain and eliminating observable symptoms.
Ultimately, genetics testing is an essential tool in assessing the patient’s risk of developing breast cancer. The practical choice of preventative screening methods contributes to the likelihood of early diagnosis. Individual approach to treatment and a high level of awareness about the disease has a positive effect on one’s health, allowing one to address the potential issues in a timely manner.
Agnese, D. M., & Pollock, R. E. (2016). Breast cancer genetic counseling: A surgeon’s perspective. Frontiers in Surgery, 3(4), 1-7. Web.
BRCA mutations: Cancer risk and genetic testing. (2018). Web.
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Godet, I., & Gilkes, D. M. (2017). BRCA1 and BRCA2 mutations and treatment strategies for breast cancer. Integrative Cancer Science Theory, 4(1), 1-17. Web.
Tung, N. M., & Garber, J. E. (2018). BRCA1/2 testing: Therapeutic implications for breast cancer management. British Journal of Cancer, 119, 141-152. Web.