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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. a. Knowing that a familial mutation is occurring in this family, what would be your next course of action in this case? 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?

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Human Heredity: Principles and Iss...

11th Edition
Michael Cummings
Publisher: Cengage Learning
ISBN: 9781305251052

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Chapter
Section
BuyFindarrow_forward

Human Heredity: Principles and Iss...

11th Edition
Michael Cummings
Publisher: Cengage Learning
ISBN: 9781305251052
Chapter 16, Problem 17QP
Textbook Problem
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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?

a.

Summary Introduction

To determine: The next course of action knowing that a familial mutation is occurring within the family.

Introduction: A patient has the presence of a mutant allele of a gene that gives her an 85% risk of developing breast cancer and a 60% risk of developing ovarian cancer. The presence of the mutant allele gives a 50/50 chance to all of her siblings to inherit the gene and then by their offsprings too. She does not want the genetic counselor to reveal the test reports to anyone in the family.

Explanation of Solution

The next course of action would involve the testing of her family members. As been told by the patient that she does not want anyone to know about that she is being tested for the disease, it becomes the responsibility of the genetic counselor to convince the patient to spread the word to her family members so that they can undertake the same test. This would help in early detection of the disease present in the family, and it might end up saving a life as well...

b.

Summary Introduction

To determine: Whether the genetic counselor has to contact the members of her family. Whether the obligations of the genetic counselor lies at the patient’s side or with the patient’s family. Whether it is inappropriate for the genetic counselor to try persuading the patient to share her results with her family members.

Introduction: A patient has the presence of a mutant allele of a gene that gives her an 85% risk of developing breast cancer and a 60% risk of developing ovarian cancer. The presence of the mutant allele gives a 50/50 chance to all of her siblings to inherit the gene and then by their offsprings too. She does not want the genetic counselor to reveal the test reports to anyone in the family.

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