Question: Can you answer A to E? Lucy is a participant in a large research study at the University of Melbourne looking at families with an

Can you answer A to E? Lucy is a participant in a large research study at the University of Melbourne looking at families with an extended history of ovarian cancer. Lucy's mother, Grace, passed away at age 60 after developing ovarian cancer. Lucy's sister, Marjorie, is 29 and has 2 children, a boy and a girl. Lucy has a strong history of ovarian cancer in her family as Grace's mother also died of ovarian cancer in her 60s and Grace's sister, Greta, recently developed ovarian cancer. a) Draw a pedigree of this family including relevant information. (5 marks) Based on her family history, the researchers wish to test Lucy for BRCA1 and BRCA2 mutations. A mutation in the BRCA1 or BRCA2 genes greatly increases a woman's lifetime risk of developing breast and/or ovarian cancer. While no effective ovarian cancer screening methods currently exist, research has shown that prophylactic removal of both sets of fallopian tubes and ovaries (bilateral salpingo-oophorectomy) can reduce risk of ovarian cancer by nearly 80% in individuals with a BRCA1 or BRCA2 mutation. b) List six (6) reasons why Lucy may or may not want to know her BRCA1/BRCA2 mutation status. (6 marks) Lucy decides to be tested and is found to carry an inherited BRCA1 mutation. Before testing Lucy discussed the possible outcomes with a genetic counsellor, Peter. Lucy had agreed to inform her other family members of the outcome of her genetic test. However, after receiving her positive result, Lucy changes her mind and refuses to inform her sister and aunt, as they are estranged and haven't spoken in years. Peter has access to contact details for Marjorie and is considering disclosing Lucy's mutation status without consent. c) What are the relevant ethical principles that apply to such a disclosure? How do each of them relate to the situation? (8 marks) Greta is discussing treatment options with her doctor. A new targeted therapeutic, Olaparib, has recently become available for patients with advanced ovarian cancer. Olaparib has been shown to delay disease recurrence without chemotherapy, but only in those with a BRCA1 or BRCA2 mutation. Before treatment with Olaparib patients must have already undergone at least two courses of conventional chemotherapy. Unfortunately, Olaparib is very expensive, costing thousands of dollars each month. The Pharmaceutical Benefits Advisory Committee has decided to heavily subsidise this drug, but only for women with ovarian cancer linked to a BRCA1 or BRCA2 mutation. d) What are some potential advantages and disadvantages of stratifying a treatment based on genetic testing? (5 marks) e) Why might this drug only be subsidised for a specific subset of patients with ovarian cancer? (2 marks) Lucy has decided to undergo prophylactic surgery to reduce her risk of ovarian cancer. However, Lucy has recently gotten married and she and her husband want to first have a child. Given the risk of BRCA1 mutations they only want to have a child that will not have Lucy's mutation. f) Describe two types of genetic tests that could be done to make sure Lucy's child does not have her BRCA1 mutation

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