Cancer, Genetics, and Genomics
Rachel comes from a family with a history of breast cancer on hermother’s side. Rachel’s mother died of breast cancer when she was veryyoung. Rachel has two sisters, Lisa and Kristin. Rachel has remainedclose to Lisa, but she no longer has a relationship with Kristin. At aroutine checkup, Rachel is told about the availability of genetictesting for identifying a predisposition to breast cancer. Her doctorrecommends the test to Rachel given her family history. Rachel has thegenetic testing done and finds that she has a mutated breast cancer 1,early onset (BRCA1) gene. Her doctor tells her she is at high risk fordeveloping breast and ovarian cancer. Rachel’s doctor suggests she askher sisters to be tested also, so they can take the proper preventativemeasures. Rachel feels comfortable sharing this information with Lisa,but she has not spoken to Kristin in many years. Rachel tells her doctorthat she is not in contact with Kristin and will not make an effort totell her about BRCA1 and genetic testing. Rachel’s doctor feelsconfident that she can locate Kristin but worries about breachingpatient confidentiality if she goes against Rachel’s wishes.If you were Rachel’s healthcare provider, what would you do? Provide arationale for your response. Include the pathological processesassociated with breast cancer. What role does the BRCA1 gene contributeto managing the patient’s care? Describe and explain the role of theBRCA1 and breast cancer 2, early onset (BRCA2) gene in contribution as arisk factor for breast cancer. Analyze the risk factors for breastcancer and possible interventions to preventive health management forwomen and men.
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