Williams J K, Schutte D L, Evers C A, Forcucci C
University of Iowa, Iowa City, USA.
Image J Nurs Sch. 1999;31(2):109-14. doi: 10.1111/j.1547-5069.1999.tb00443.x.
To describe the expectations of those seeking presymptomatic gene testing for Huntington disease (HD). Identification of the gene for HD makes it possible to conduct testing to determine if a healthy person with a family history of HD has a mutation in this gene. Presymptomatic gene testing reveals the likelihood that a person will develop an inherited disease in the future. Understanding expectations allows for more complete assessment and counseling before presymptomatic gene testing for genetic diseases.
Descriptive qualitative. The population was people with a family history of HD. The sample was 17 asymptomatic adults with a positive family history of HD who requested presymptomatic gene identification at one tertiary genetic counseling program, 1995 to 1996.
Semi-structured interviews concerning expectations of adults seeking presymptomatic genetic testing were conducted by telephone. Interviews occurred after the individuals had requested presymptomatic gene identification but before results were reported. Content analysis was used to identify the expectations and questions of those who had decided to seek presymptomatic testing.
Common expectations included anticipating relief from uncertainty, hoping to plan for their future health care and life decisions, wanting to know if their children were at risk of developing HD, anticipating loss of family support from relatives, expecting relief from self monitoring, venturing into the unknown, and planning for disclosure. Participants attempted to avoid their loss of genetic privacy by withholding the decision to seek testing from their primary care providers.
Participants seeking presymptomatic HD gene testing consider the effect of gene identification on themselves and their families. A desire to limit insurance or employment discrimination contributes to subjects not seeking input from health care providers in their decision making.
描述那些寻求亨廷顿舞蹈症（HD）症状前基因检测者的期望。HD基因的鉴定使得进行检测以确定有HD家族病史的健康人是否携带该基因突变成为可能。症状前基因检测揭示了一个人未来患遗传性疾病的可能性。了解这些期望有助于在进行遗传性疾病症状前基因检测之前进行更全面的评估和咨询。
描述性定性研究。研究对象为有HD家族病史的人群。样本是1995年至1996年期间在一个三级遗传咨询项目中要求进行症状前基因鉴定的17名有HD家族史的无症状成年人。
通过电话对寻求症状前基因检测的成年人的期望进行半结构化访谈。访谈在个体要求进行症状前基因鉴定之后、结果报告之前进行。采用内容分析法来确定那些决定寻求症状前检测者的期望和问题。
常见的期望包括期望从不确定性中解脱出来，希望为未来的医疗保健和生活决策做好规划，想知道自己的孩子是否有患HD的风险，预期会失去亲属的家庭支持，期望从自我监测中解脱出来，冒险进入未知领域，以及为信息披露做好规划。参与者试图通过不向初级保健提供者透露寻求检测的决定来避免基因隐私的丧失。
寻求HD症状前基因检测的参与者会考虑基因鉴定对自身及其家庭的影响。限制保险或就业歧视的愿望导致受试者在决策时不寻求医疗保健提供者的意见。
