Ch. 12 Case Study: A Patient Offered New Cancer Treatment Harriet Abeline had fa
ID: 89717 • Letter: C
Question
Ch. 12 Case Study: A Patient Offered New Cancer Treatment Harriet Abeline had faced bad news before. She was diagnosed with breast cancer five years ago and underwent a lumpectomy and radiation treatment. Two years later, a routine mammogram revealed another lump. She used similar treatment for this tumor. Harriet understood medicine. For years she had worked as a recruiter for a major drug company interviewing and hiring scientists and physicians. The company was a reputable and honest business and developed drugs that were used all over the world. With each recurrence of cancer, she researched her situation and the available drugs being used for treatment. She also discovered that some cases of breast cancer are caused by a genetic predisposition. With each google search, she read about the experimental treatments that were available for end-stage breast cancer, keeping them in the back of her mind. Her doctor told her that the cancer had spread to her bones. Harriet was frightened. Dr. Hill understood her fear. Harriet had been working with cancer patients for years and had recently been using some of the newer treatments available for late-stage cancers. 1. What should Harriet do? Should she be tested to see if she carries mutant alleles BRCA1 and BRCA2? 2. If Dr. Hill told Harriet that no other treatment could help her, might that make a difference in her decision to participate in the trial? Why or why not? 3. Many trials need end-stage patients to see how a drug might affect individuals who are very sick or dying. Can these patients really understand what the trials are about and give consent? 4. What should Dr. Hill tell Harriet about the proposed treatment before she agrees? List 5 items. 5. Is there anything that a researcher or physician shouldn’t tell a patient? 6. One serious problem in clinical trials is that researchers often cannot persuade patients to participate. Why do you think that is?
Explanation / Answer
Harriet should be be tested to see if she carries mutant alleles BRCA1 and BRCA2 because BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins. These proteins help repair damaged DNA and, therefore, play a role in ensuring the stability of the cell’s genetic material. Specific inherited mutations in BRCA1 and BRCA2 increase the risk of female breast and ovarian cancers, and they have been associated with increased risks of several additional types of cancer. Together, BRCA1 and BRCA2 mutations account for about 20 to 25 percent of hereditary breast cancers
Genetic counseling is generally recommended before and after any genetic test for an inherited cancer syndrome. This counseling should be performed by a health care professional who is experienced in cancer genetics. Genetic counseling usually covers many aspects of the testing process, including:
A hereditary cancer risk assessment based on an individual’s personal and family medical history
Discussion of:
The appropriateness of genetic testing
The medical implications of a positive or a negative test result
The possibility that a test result might not be informative
The psychological risks and benefits of genetic test results
The risk of passing a mutation to children
Explanation of the specific test(s) that might be used and the technical accuracy of the test(s)
A positive test result indicates that a person has inherited a known harmful mutation in BRCA1 or BRCA2 and, therefore, has an increased risk of developing certain cancers. However, a positive test result cannot tell whether or when an individual will actually develop cancer. For example, some women who inherit a harmful BRCA1 or BRCA2 mutation will never develop breast or ovarian cancer.
A positive genetic test result may also have important health and social implications for family members, including future generations. Unlike most other medical tests, genetic tests can reveal information not only about the person being tested but also about that person’s relatives.
Prophylactic (Risk-reducing) Surgery and Chemoprevention is done that is the use of drugs, vitamins, or other agents to try to reduce the risk
Research studies are being conducted to find new and better ways of detecting, treating, and preventing cancer in people who carry mutations in BRCA1 and BRCA2. Additional studies are focused on improving genetic counseling methods and outcomes. Our knowledge in these areas is evolving rapidly.