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- Feb 24, 2007
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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.
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.