Chapter 16, Problem 17QP

You are a genetic counselor, and your patient has asked to be tested to determine if she carries a gene that predisposes her to early-onset cancer. If your patient has this gene, there is a 50/50 chance that all of her siblings inherited the gene as well; there is also a 50/50 chance that it will be passed on to their offspring. Your patient is concerned about confidentiality and does not want anyone in her family to know she is being tested, including her identical twin sister. Your patient is tested and found to carry a mutant allele that gives her an 85% lifetime risk of developing breast cancer and a 60% lifetime risk of developing ovarian cancer. At the result-disclosure session, she once again reiterates that she does not want anyone in her family to know her test results.

1. a. Knowing that a familial mutation is occurring in this family, what would be your next course of action in this case?
2. b. Is it your duty to contact members of this family despite the request of your patient? Where do your obligations lie: with your patient or with the patient’s family? Would it be inappropriate to try to persuade the patient to share her results with her family members?