Hines Karrie A, Veach Patricia McCarthy, LeRoy Bonnie S
Department of Obstetrics and Gynecology, Indiana University School of Medicine, Indianapolis, IN, USA.
J Genet Couns. 2010 Apr;19(2):131-47. doi: 10.1007/s10897-009-9265-5. Epub 2009 Oct 23.
Research indicates that health care professionals' attitudes may affect patients' decisions regarding prenatal Huntington Disease testing, but few studies have sampled genetic counselors. In this qualitative study, genetic counselors described their experiences counseling individuals at risk for HD regarding reproductive decision-making. Five major research questions were investigated: 1) What are genetic counselor responsibilities? 2) What issues arise for patients and counselors? 3) How do counselors reconcile prenatal testing with presymptomatic testing? 4) To what extent are counselors' initial expectations of at-risk patients' beliefs and behaviors met? and 5) What advice would counselors offer to novice practitioners about working with this patient population? Fifteen genetic counselors experienced in counseling individuals at risk for HD participated in a semi-structured phone interview that yielded several themes. For example, participants identified their primary responsibility as information provision; less prevalent were psychosocial support and facilitating decision making. The most common ethical challenge was testing prenatally for HD which also results in presymptomatic testing of minors. Participants were divided about how directive to be in response to this ethical issue and about termination of a gene positive pregnancy.
研究表明，医疗保健专业人员的态度可能会影响患者关于产前亨廷顿舞蹈症检测的决定，但很少有研究对遗传咨询师进行抽样调查。在这项定性研究中，遗传咨询师描述了他们为有亨廷顿舞蹈症风险的个体提供生殖决策咨询的经历。研究调查了五个主要问题：1）遗传咨询师的职责是什么？2）患者和咨询师会出现哪些问题？3）咨询师如何协调产前检测和症状前检测？4）咨询师对有风险患者的信念和行为的初步期望在多大程度上得到满足？5）咨询师会给新手从业者提供哪些关于与这类患者群体合作的建议？15位有为有亨廷顿舞蹈症风险的个体提供咨询经验的遗传咨询师参与了一次半结构化电话访谈，访谈得出了几个主题。例如，参与者将他们的主要职责确定为提供信息；心理社会支持和促进决策则不太普遍。最常见的伦理挑战是对亨廷顿舞蹈症进行产前检测，这也会导致对未成年人进行症状前检测。在应对这一伦理问题以及基因检测呈阳性的妊娠终止问题时，参与者对于应采取何种指导方式存在分歧。
