cancer, genetics and genomics

Cancer, Genetics, and Genomics

Rachel comes from a family with a history of breast cancer on her mother’s side. Rachel’s mother died of breast cancer when she was very young. Rachel has two sisters, Lisa and Kristin. Rachel has remained close to Lisa, but she no longer has a relationship with Kristin. At a routine checkup, Rachel is told about the availability of genetic testing for identifying a predisposition to breast cancer. Her doctor recommends the test to Rachel given her family history. Rachel has the genetic 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 for developing breast and ovarian cancer. Rachel’s doctor suggests she ask her sisters to be tested also, so they can take the proper preventative measures. Rachel feels comfortable sharing this information with Lisa, but she has not spoken to Kristin in many years. Rachel tells her doctor that she is not in contact with Kristin and will not make an effort to tell her about BRCA1 and genetic testing. Rachel’s doctor feels confident that she can locate Kristin but worries about breaching patient confidentiality if she goes against Rachel’s wishes.

If you were Rachel’s healthcare provider, what would you do? Provide a rationale for your response. Include the pathological processes associated with breast cancer. What role does the BRCA1 gene contribute to managing the patient’s care? Describe and explain the role of the BRCA1 and breast cancer 2, early onset (BRCA2) gene in contribution as a risk factor for breast cancer. Analyze the risk factors for breast cancer and possible interventions to preventive health management for women and men.

Expert Solution Preview

Introduction:

As a healthcare provider, it is important to consider the ethical implications of patient confidentiality while also ensuring the best possible care for the patient. In this scenario, Rachel’s family history of breast cancer and her testing positive for the BRCA1 gene mutation raises several concerns regarding patient confidentiality, genetic testing, and cancer management.

Answer:

If I were Rachel’s healthcare provider, I would prioritize Rachel’s autonomy by respecting her decision to not contact Kristin about her genetic test results. However, I would strongly encourage Rachel to reconsider and emphasize the importance of her sisters being screened for the mutation to take preventative measures. As a medical professional, it is important to respect the patient’s wishes, but also to ensure that they make informed decisions about their health.

The BRCA1 gene plays an important role in managing the patient’s care in this scenario since it is associated with an increased risk of developing breast and ovarian cancer. Knowing that Rachel has the BRCA1 mutation allows her healthcare provider to make recommendations for increased surveillance and preventative measures to manage her risk for cancer.

In addition to BRCA1, the BRCA2 gene mutation is also associated with an increased risk of breast cancer. Women with these mutations are typically advised to undergo increased surveillance, including mammograms and breast MRI, and may also consider prophylactic surgery (such as mastectomy) or chemoprevention as preventative measures.

Risk factors for breast cancer include age, family history of breast and ovarian cancer, hormonal factors (such as early onset of menstruation or late menopause), and lifestyle factors (such as obesity and alcohol consumption). Possible interventions for preventive health management for women and men include regular screening (such as mammograms), maintaining a healthy lifestyle, and making informed decisions regarding genetic testing and preventative measures based on individual risk factors.

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