Disclosure of the hereditary illnesses to relatives -Ethics

Discussion in 'Step I' started by purplelife, 05.19.14.

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  1. purplelife

    purplelife 7+ Year Member

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    A 42-year-old Caucasian man comes to the office for a follow-up visit. His father died at 40 years of age from Huntington's disease. He is worried about the possibility of having a similar illness. You have ordered genetic testing and he is positive for Huntington's disease. He has no other complaints or medical problems. He asks you to conceal this information from his relatives. What is the most appropriate decision in this situation?

    A) Do not inform the patient's relatives about his diagnosis
    B) Call the patient's relatives and tell them the diagnosis
    C) Inform only the patient's closest relatives who are at risk of the disease
    D) Consult with the hospital's Ethics Committee
    E) Document the refusal of the patient and make him sign it


    Do all the hereditary illnesses need to be disclosed by the pts to their relatives as they all seem serious?






    Explanation:
    Correct answer is E. Physicians must be aware of the implications of identifying a serious hereditary illness in their patients. For instance, Huntington's disease and Tay-Sachs disease are hereditary conditions with progressive neurologic compromise that ultimately lead to death. If any of the abovementioned diseases are identified in a patient, the risk of the patient's relatives for having the same disease is highly increased; therefore, counseling of patients who are about to undergo genetic testing must be integrated in their management. According to the American Medical Association (AMA), such patients should be pre-counseled (before genetic testing) on the need to disclose the results of certain genetic tests to their relatives. When a patient refuses to disclose the information despite having positive results, the physician must respect his patient's decision; however, he should obtain proper documentation (with the patient's signature) of the patient's intention to conceal his diagnosis.

    (Choice A) In addition to concealing the information from the patient's relatives, the physician must obtain legal documentation of the patient's decision (i.e., the patient must sign a document/statement in the chart, indicating his refusal to disclose the information). Several cases have been filed and won against physicians who did not have the proper documentation of the patient's decision to conceal the test results from his/her relatives.

    (Choices B and C) The confidentiality act states that private and genetic information must not be disclosed to third parties. Civil and criminal actions are currently being taken towards physicians who have violated this law.

    (Choice D) The ethics committee cannot force the patient to disclose the information to another individual, and does not have the right to reveal it.

    Educational Objective:
    When a patient is diagnosed with a serious hereditary illness (e.g., Huntington's disease, Tay-Sachs disease), the risk of the patient's relatives for having the same disease is highly increased. Patients should thus be pre-counseled on the need to disclose the results of certain genetic tests. If the patient refuses to disclose the information despite having positive results, the physician must respect his patient's decision; however, he should obtain proper documentation (with the patient's signature) of the patient's intention to conceal his diagnosis.
     
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  3. purplelife

    purplelife 7+ Year Member

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  4. dyspareunia

    dyspareunia

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    E seems like the obvious answer to me. It's not like we're talking about an infectious disease here.

    Keys to ethics questions.

    1. Handle the situation yourself (don't consult the ethics committee).
    2. Respect the patient.
    3. Document everything (consent, patient request, etc).

    Answer E fulfills all of those. The others do not.
     
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  5. bulldogmed

    bulldogmed 2+ Year Member

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    Actually, there's more to this. I had a question on FAP and ethics. The dad is divorced and has children. He's diagnosed w/ FAP, but he demands that the children are not informed. As the physician, you don't follow his wishes because to do so would subject his children to a disease that is 100% if present. Pts with FAP develop colorectal ca 100% by age 40 or so. So in instances where the dz is likely to present in adulthood and is preventable with prophylactic measures, then you have a duty to inform those parties. Make sense?
     
  6. Apoplexy__

    Apoplexy__ Blood-and-thunder appearance Bronze Donor 2+ Year Member

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    Maybe it's different because you're dealing with minors? They always say parents cannot withhold life or limb-saving treatment from kids. If the disease if life-threatening but not immediately, I would assume the same would apply (but maybe instead of ignoring the father's request, you would go through a legal process of overruling it).
     
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  7. bulldogmed

    bulldogmed 2+ Year Member

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    That might be it. I don't know about how you go about the process of telling them, whether it's directly or through the courts.
     
  8. Etorphine

    Etorphine 5+ Year Member

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  9. purplelife

    purplelife 7+ Year Member

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  10. purplelife

    purplelife 7+ Year Member

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    I think that was one of the UW question.
    So, if any disease that can be prevented and is deadly should be taken seriously and needs to be reported to those at risk even if the patient refuses? And those that are not preventable, but life changing like Huntington, doesn't need to be reported if the patient doesn't want to inform others?

    I'm still not clear about which to report even if the patient doesn't want to and which not to?
     
  11. purplelife

    purplelife 7+ Year Member

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    I was told by other students that it's our responsibility to report instead of asking the third party to do it. Still, not sure.
     
  12. bulldogmed

    bulldogmed 2+ Year Member

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    That sounds right.
     
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