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Ch. 22 - Applications of Genetic Engineering and Biotechnology
Klug - Concepts of Genetics  12th Edition
Klug12th EditionConcepts of Genetics ISBN: 9780135564776Not the one you use?Change textbook
Chapter 22, Problem 17

In 2013 the actress Angelina Jolie elected to have prophylactic double-mastectomy surgery to prevent breast cancer based on a positive test for mutation of the BRCA1 gene. What are some potential positive and negative consequences of this high-profile example of acting on the results of a genetic test?

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Understand the role of the BRCA1 gene: The BRCA1 gene is a tumor suppressor gene that helps repair DNA damage. Mutations in this gene can lead to an increased risk of breast and ovarian cancer. Begin by explaining the genetic basis of the decision made by Angelina Jolie.
Identify the potential positive consequences: Discuss how Angelina Jolie's decision brought public awareness to genetic testing and preventive measures. Highlight how this could encourage individuals with a family history of cancer to seek genetic counseling and testing, potentially leading to early detection and prevention.
Discuss the potential negative consequences: Explain how high-profile cases like this might lead to misunderstandings about genetic testing, such as overestimating the necessity of drastic measures like surgery for individuals without a significant genetic risk. Additionally, address the potential for increased anxiety or fear surrounding genetic testing.
Consider the ethical and social implications: Explore how this example raises questions about access to genetic testing and preventive care, as not everyone may have the financial resources or healthcare access to make similar decisions. Discuss the importance of equitable access to genetic services.
Summarize the importance of informed decision-making: Emphasize the need for individuals to consult with genetic counselors and healthcare professionals to fully understand their genetic risks and the range of options available, ensuring decisions are based on accurate information and personal circumstances.

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Key Concepts

Here are the essential concepts you must grasp in order to answer the question correctly.

BRCA1 Gene and Its Role in Cancer

The BRCA1 gene is a crucial tumor suppressor gene that helps repair DNA breaks. Mutations in this gene significantly increase the risk of breast and ovarian cancers. Understanding the implications of BRCA1 mutations is essential for assessing cancer risk and making informed medical decisions, such as prophylactic surgeries.
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Prophylactic Surgery

Prophylactic surgery, such as a double mastectomy, is a preventive measure taken to reduce the risk of developing cancer in individuals with a high genetic predisposition. While it can significantly lower the risk of cancer, it also carries physical and emotional consequences, including surgical risks and impacts on body image and mental health.

Public Perception and Genetic Testing

High-profile cases like Angelina Jolie's can influence public perception of genetic testing and preventive measures. They can raise awareness about genetic risks and encourage individuals to seek testing, but they may also lead to misconceptions about the necessity and implications of such tests, potentially resulting in anxiety or pressure to undergo similar procedures.
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Related Practice
Textbook Question

Consider ethical issues associated with creating a synthetic human genome. Are there specific applications for a synthetic human genome that you support? Is creating a synthetic genome enhanced with genes for certain kinds of traits one of those applications?

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Textbook Question

The family of a sixth-grade boy in Palo Alto, California, was informed by school administrators that he would have to transfer out of his middle school because they believed his mutation of the CFTR gene, which does not produce any symptoms associated with cystic fibrosis, posed a risk to other students at the school who have cystic fibrosis. After missing 11 days of school, a settlement was reached to have the boy return to school. What ethical problems might you associate with this example?

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Textbook Question

Dominant mutations can be categorized according to whether they increase or decrease the overall activity of a gene or gene product. Although a loss-of-function mutation (a mutation that inactivates the gene product) is usually recessive, for some genes, one dose of the normal gene product, encoded by the normal allele, is not sufficient to produce a normal phenotype. In this case, a loss-of-function mutation in the gene will be dominant, and the gene is said to be haploinsufficient. A second category of dominant mutation is the gain-of-function mutation, which results in a new activity or increased activity or expression of a gene or gene product. The gene therapy technique currently being used in clinical trials involves the 'addition' to somatic cells of a normal copy of a gene. In other words, a normal copy of the gene is inserted into the genome of the mutant somatic cell, but the mutated copy of the gene is not removed or replaced. Will this strategy work for either of the two aforementioned types of dominant mutations?

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Textbook Question

The National Institutes of Health created the Genetic Testing Registry (GTR) to increase transparency by publicly sharing information about the utility of their tests, research for the general public, patients, health-care workers, genetic counselors, insurance companies, and others. The Registry is intended to provide better information to patients, but companies involved in genetic testing are not required to participate. Should company participation be mandatory? Why or why not? Explain your answers.

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Textbook Question

Should the FDA regulate direct-to-consumer genetic tests, or should these tests be available as a 'buyer beware' product?

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Textbook Question

Would you have your genome sequenced, if the price was affordable? Why or why not? If you answered yes, would you make your genome sequence publicly available? How might such information be misused?

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