Genetic Disease

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Case Study 2

Huntington’s chorea is a genetically transmitted disease that affects both males and females. Only one gene from either parent is required to transmit the disease to offspring. If a person knows that the disease runs in his family, there is a 50/50 chance that he will have it. Although some tests have been developed to detect the disease, generally people will not know that they have it until the symptoms appear; this generally occurs in midlife. In the United States, one person out of 10,000 has this disease. Thus, there are more than 20,000 active cases in the United States, and there are probably 100,000 people who are uncertain whether they have it.

With Huntington’s chorea, there is a continuous and irreversible deterioration of the mental, physical, and motor functions. Clumsiness and forgetfulness are followed by angry outbursts, disorientation, and incontinence, loss of speech control, and writhing and twisting of the entire body. Ten or twenty years of suffering lead to death. Victims often commit suicide. Dr. Calvin discovers that Mary Burns, age 40, has Huntington’s chorea when she comes to ask for help with her memory loss and angry outbursts. He does not tell her the truth, because there are no medical decisions to be made, but most of all because of the horrible death she faces. A few weeks later, when Mary’s son, age 20, comes in for a premarital blood test, Dr. Calvin wonders whether he should tell the son that he has a 50 percent chance of having the disease and so should hesitate before having children.

This story leads to the following questions:

·         Is the physician ethical in concealing the truth?

·         Does Mary need to know the diagnosis for any possible decisions about herself and her children?

·         What is the significance of the fact that she has paid for the diagnosis?

·         Could the physician’s silence be justified by paternalism or therapeutic privilege?

·         What is to be said of the argument that, as there is no treatment, there is no need for informed consent?

Write a 4 page paper in APA format in response to the questions listed above. The following is a recommended outline:

  1.  Cover page (See APA Sample paper)
  2. Introduction
  3. Body (Cite sources with in-text citations.)
  4. Conclusion – Summary of main points
  5. References – List the references you cited in the text of your paper according to APA format. REFERENCE NO LESS THAN 5 YEARS OLD.

(Note: Do not include references that are not cited in the text of your paper)

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