As the healthcare in charge of Rachael’s care, my first to duty is to have her understand the importance of a positive BRCA1 gene’s result not only to her as an individual but also members of her family. According to McCance, & Huether (2014), BRCA1 is located on chromosome 17 while BRCA2 is located on chromosome 13. As tumor-suppressing, the two genes are known to increase the likelihood of one developing cancer. By 70 years of age, individuals with mutated BRCA1/BRCA2 or both of them have a greater risk (at least 50%) of developing either ovarian or breast cancer (National Cancer Institute at the National Institutes of Health, 2015). The genes are responsible for the production of tumor-suppressor genes. The proteins aid in the repair of altered DNA stabilizing the genetic material of the cell. However, damaged DNA may not be properly repaired after either of the above genes is altered or mutates as the protein made does not function in the correct way.
National Cancer Institute at the National Institutes of Health (2015) outlines that, the production of abnormal proteins with altered functions result in the development of extra genetic alterations in the involved cells hence leading to cancer. There exists a 50% chance that siblings to individuals who test positive for the genes will too test positive. As such, testing them would be important in having their life saved. It is crucial that Rachael ensures that her sisters get this information. Due to the fact that she is not ready to inform her sister, Kristin about the test, the best thing is to get her permission so that Kristin is contacted about getting the test done on her. If she declines this request, the next thing will be to talk with Lisa about Kristin with Rachael’s permission. It is important that Rachael considers preventive therapy which includes transvaginal ultrasound, annual mammograms, and MRIs (National Cancer Institute at the National Institutes of Health, 2015). She should also go for preventive surgery in the case that some of her family members have been diagnosed or died of ovarian or breast cancer. This is because individuals at high risk possess a family history of ovarian or breast cancer. For breast cancer, the best intervention is monthly check-ups and annual screening which is important for early diagnoses and prompt treatment.
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Reference
McCance, K., & Huether, S. (2014). Pathophysiology: The Biologic Basis for Disease in Adults and Children, (7 th ed.). [VitalSource Bookshelf Online]. Retrieved from https://digitalbookshelf.southuniversity.edu/#/books/9780323088541/
National Cancer Institute at the National Institutes of Health. (2015). BRCA1 and BRCA2: Cancer risk and genetic testing. Retrieved from http://www.cancer.gov/aboutcancer/causes-prevention/genetics/brca-fact-sheet
