Jeff (age 38) and John (Jeff\'s 18 year old son) are seeking the advice of a gen
ID: 50771 • Letter: J
Question
Jeff (age 38) and John (Jeff's 18 year old son) are seeking the advice of a genetic counselor after a family member was recently diagnosed with Huntington disease, a progressive and fatal nervous system disorder that manifests itself when individuals are generally between age 30 and age 50. If Jeff has inherited the gene for Huntington disease, then there is a 50% probability that he has passed along the gene to Jason. Jeff shows no symptoms of the disease and he prefers not to know whether or not he has the gene. However, John, who recently became engaged to his girlfriend wants to know whether or not he possesses the gene for Huntington disease. If John is found to carry the gene, it means that Jeff also has the gene. Jeff and John are very close, and John knows that he would be unable to conceal his test results from his father.
Discussion Questions:
1. Do you believe that John has a right to know whether or not he carries the Huntington's disease gene despite Jeff's wishes to remain uninformed about his own status? Instead of just stating 'yes' or 'no,' be sure to explain your answer.
2. Does Jeff have the right not to know his status?
3. Would you want to know or not know? Why or why not?
4. What are the signs/symptoms and complications of Huntington's disease?
As always, post a minimum of three times. Answer the questions in your first posting and respond to your classmates in your other postings.
Related Information: The process of testing for suspected genetic defects before administering treatment is called genetic diagnosis by genetic testing. In some cases in which a genetic disease is present in an individual’s family, family members may be advised to undergo genetic testing. For example, mutations in the BRCA genes may increase the likelihood of developing breast and ovarian cancers in women and some other cancers in women and men. A woman with breast cancer can be screened for these mutations. If one of the highrisk mutations is found, her female relatives may also wish to be screened for that particular mutation, or simply be more vigilant for the occurrence of cancers. Genetic testing is also offered for fetuses (or embryos with in vitro fertilization) to determine the presence or absence of disease-causing genes in families with specific debilitating diseases
Explanation / Answer
1. Yes John has the wright to know whether is a carrier of the gene or not. Since the person is having the right to know what is happening to him. And the results need not be given to his father since maintaining confidentiality of medical information is essential.
2. Jeff also has the right to know the status of John since he is his son, but John also should have willing ness to inform the test results to his father.
3. I would like to know, since knowing the chances of disease occurrence will help the patient to plan for his future better physiologically and financially to run his future peacefully without any uncertainty.
4. Huntington's disease produces three types of symptoms: movement, cognitive, and psychiatric. The sequence in which symptoms develop varies from person to person.
Movement and Huntington's Disease
Uncontrolled movement, or tics, may develop in the fingers, feet, face, or trunk. This is the beginning stage of chorea—involuntary, rapid, ceaseless movement. other symptoms include.
Cognitive Function and Huntington's Disease
Over time judgment, memory, and other cognitive functions begin to deteriorate into dementia. As Huntington's disease progresses, the ability to concentrate becomes more difficult. The person may have difficulty driving, keeping track of things, making decisions, answering questions, and may lose the ability to recognize familiar objects.
Psychiatric Symptoms of Huntington's Disease
Early psychiatric symptoms of Huntington's disease are subtle, varied, and easily overlooked or misinterpreted. Depression is the most common psychiatric symptom of Huntington's and often develops early in the course of the disease. Signs of depression include:
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