A 26-year-old man comes to the physician for a follow-up visit. One month ago, he came in for genetic counseling and testing because he wanted to know if he could develop Huntington disease. He has no medical problems and does not use tobacco, alcohol, or illicit drugs. His father was diagnosed with Huntington disease at age 33 and died 12 years later after experiencing progressive and disabling neurologic deterioration. The patient has an older sister and a younger brother who are apparently healthy. He has been married for 5 years and is the father of 2 children. His wife is 25 weeks pregnant. As the physician is about to discuss his test results, the patient says, "I've changed my mind, doc. I don't want to know the test results." Which of the following is the most appropriate response to this patient?

Question

A 26-year-old man comes to the physician for a follow-up visit.  One month ago, he came in for genetic counseling and testing because he wanted to know if he could develop Huntington disease.  He has no medical problems and does not use tobacco, alcohol, or illicit drugs.  His father was diagnosed with Huntington disease at age 33 and died 12 years later after experiencing progressive and disabling neurologic deterioration.  The patient has an older sister and a younger brother who are apparently healthy.  He has been married for 5 years and is the father of 2 children.  His wife is 25 weeks pregnant.  As the physician is about to discuss his test results, the patient says, "I've changed my mind, doc.  I don't want to know the test results."  Which of the following is the most appropriate response to this patient?

Quizplus · Accepted Answer

Explanation: Huntington disease is a non-treatable, autosomal dominant condition characterized by progressive neurologic deterioration, ultimately leading to death in middle age. Presymptomatic genetic screening in patients with a family history of the disease is entirely voluntary. It is requested by a minority of patients to assist in decisions regarding family, career, and financial planning. Both pre-test counseling and post-test support should be provided to address emotional reactions and psychological issues. The ethical principle of autonomy includes the patient's right to receive or refuse to receive medical information. According to the ethical guidelines of the World Health Organization, "the wish of individuals and family not to know genetic information, including test results, should be respected, except in testing of newborn babies or children for treatable conditions." Knowledge of an incurable disease may result in significant psychological distress, including depression, anxiety, and suicide. This patient is ambivalent about knowing the results and is not psychologically ready to receive the information. The physician should respect his decision but leave an opening for the patient to change his mind. Additional counseling to support and help the patient come to a decision should be offered. (Choice A) The physician has an obligation to respect the patient's decision. Informing the patient of the results against his stated wishes would be inappropriate. (Choices C and E) These statements are judgmental and coercive. The patient is struggling with a difficult decision and should be treated in a respectful and supportive manner. (Choice D) The patient's wife should be involved only if requested by the patient. Although the patient's children and unborn child may also be carriers for the disease, there are no preventive or treatment interventions that would modify the course of the disease. The patient should be encouraged to discuss the issue with his wife if they plan to have additional children. Educational objective: Patients have the right not to know genetic information unless it involves a treatable condition in a child. Physicians must be aware of the psychological ramifications of knowing carrier status for a fatal condition such as Huntington disease. References: To know or not to know: a review of behaviour and suicidal ideation in preclinical Huntington's disease. (http://www.ncbi.nlm.nih.gov/pubmed/17000074) Ethical considerations of genetic presymptomatic testing for Huntingtons disease. (http://www.ncbi.nlm.nih.gov/pubmed/19827323) Ethical issues and Huntington's disease. (http://www.ncbi.nlm.nih.gov/pubmed/24300652)

A 26-Year-Old Man Comes to the Physician for a Follow-Up