Stern R, Eldridge R
J Med Genet. 1975 Sep;12(3):217-23. doi: 10.1136/jmg.12.3.217.
Reaction to medical, social, and genetic implications of Huntington's disease was evaluated by means of a questionnaire mailed to members of a lay organization concerned with this disease in the United States. One thousand and sixty-five of the approximately 2600 members chose to respond. Patients and those at high risk found physical disabilities most disturbing while mental deterioration and personality change were the most disturbing to spouses of patients. The best source of information regarding the disease for 46% was the lay organization itself. Medical specialists or genetic counsellors were cited as the best source of information by 18%. The transmission risk in Huntington's disease was correctly stated to be one-half by 92% of all respondents including 94% of those who indicated the lay organization as best source and 91% of those who indicated medical specialists and genetic ounsellors as best source. If at risk for Huntington's disease, 86% of respondents would modify their family size; desire for limitation was greatest among those affected but lowest among young adults at high risk. If a screening test were available, 23% at high risk might refuse it.
通过向美国一个关注亨廷顿氏病的非专业组织成员邮寄问卷的方式，对他们关于亨廷顿氏病的医学、社会和遗传影响的反应进行了评估。在约2600名成员中，有1065人选择回复。患者及高危人群认为身体残疾最令人困扰，而精神衰退和性格改变对患者的配偶来说最令人困扰。46%的人认为关于该疾病的最佳信息来源是这个非专业组织本身。18%的人认为医学专家或遗传咨询师是最佳信息来源。92%的受访者正确指出亨廷顿氏病的遗传风险为二分之一，其中94%将非专业组织视为最佳信息来源的受访者以及91%将医学专家和遗传咨询师视为最佳信息来源的受访者答对了这一问题。如果有患亨廷顿氏病的风险，86%的受访者会调整家庭规模；受影响人群中限制生育的愿望最为强烈，而高危青年人群中这一愿望最低。如果有筛查测试，23%的高危人群可能会拒绝接受。
