A 24-year-old man comes to the office for a follow-up visit. His paternal grandfather died at age 45 from Huntington disease. The patient says, "I don't know if my father has the condition because whenever I bring it up he shuts down and doesn't want to talk about it. I know that if my father has the disease I could be at risk and so could my sister, who is 2 years younger. I don't want to spend the next 20 years worrying about whether I will get sick." The physician educates the patient about the course and genetics of Huntington disease and orders genetic testing at the patient's request. The results are positive for Huntington disease. Despite the physician's recommendation that the patient consider disclosing these results to family members, he refuses, stating that he prefers to keep this information from his family, which includes his father, sister, and wife. The patient explains that he doesn't want them to worry. Which of the following is the most appropriate course of action?

Question

A 24-year-old man comes to the office for a follow-up visit.  His paternal grandfather died at age 45 from Huntington disease.  The patient says, "I don't know if my father has the condition because whenever I bring it up he shuts down and doesn't want to talk about it.  I know that if my father has the disease I could be at risk and so could my sister, who is 2 years younger.  I don't want to spend the next 20 years worrying about whether I will get sick."  The physician educates the patient about the course and genetics of Huntington disease and orders genetic testing at the patient's request.  The results are positive for Huntington disease.  Despite the physician's recommendation that the patient consider disclosing these results to family members, he refuses, stating that he prefers to keep this information from his family, which includes his father, sister, and wife.  The patient explains that he doesn't want them to worry.  Which of the following is the most appropriate course of action?

Quizplus · Accepted Answer

Explanation: According to American Medical Association guidelines (Opinion 2.131-Disclosure of Familial Risk in Genetic Testing), the primary duty of physicians is to protect confidential genetic information, but they should also identify circumstances under which they would expect patients to notify biological relatives. According to the American Society of Human Genetics, if attempts to encourage disclosure by the patient have failed, then disclosure of genetic information to relatives is permissible only if such a disclosure would serve to ameliorate or prevent a highly likely and forseeable harm to the identified individual. In this patient's situation, informing his family members about Huntington disease would not be expected to prevent or ameliorate harm, as his disease status does not change the disease's incurable nature or modify its course in his relatives (Choices A and C). Many patients initially respond to genetic testing results with feelings of shock, anxiety, or denial that may play a role in the initial decision of whether to disclose results to family members. Therefore, it is recommended that patients be counseled regarding options for disclosure prior to the testing itself, if possible. In this case, the physician should first discuss with this patient his reasons for nondisclosure and the risks and benefits of this decision. Although the physician should encourage disclosure, the patient's decision not to disclose should be respected. (Choice B) The physician should continue to encourage the patient's disclosure to his wife so that she can understand his condition and its impact on future planning if they desire children. However, the patient's genetic information should not be disclosed without his consent. (Choice D) Agreeing with the patient's decision would likely send a conflicting message after the physician has recommended disclosure to affected family members. It would be appropriate to provide emotional support to the patient, but he should be encouraged to disclose his condition to family members as the information can help with their understanding and ability to support him and may affect their desire for testing. Educational objective: Patients may respond to hereditary testing results with shock, anxiety, or denial. If a patient with positive results refuses to disclose the information to family members, the physician should discuss the reasons for the patient's decision in a supportive manner. The physician is obligated to report results only if harm to an identifiable individual is evident. References: Disclosures of Huntington disease risk within families: patterns of decision-making and implications. (http://www.ncbi.nlm.nih.gov/pubmed/17632780)

A 24-Year-Old Man Comes to the Office for a Follow-Up