Adults seeking presymptomatic gene testing for Huntington disease.
Adults seeking presymptomatic gene testing for Huntington disease.
复制标题
寻求亨廷顿病症状前基因检测的成年人。
DOI：
10.1111/j.1547-5069.1999.tb00443.x
复制
发表时间：
1999
期刊：
影响因子：
--
通讯作者：
Chris Forcucci
中科院分区：
文献类型：
--
作者：
Janet K. Williams;Debra L. Schutte;Catherine A. Evers;Chris Forcucci
目的
描述那些寻求亨廷顿病 (HD) 症状前基因检测的人的期望。亨廷顿舞蹈症基因的鉴定使得可以进行测试以确定有亨廷顿舞蹈症家族史的健康人是否有该基因突变。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。了解期望可以在遗传疾病的症状前基因检测之前进行更完整的评估和咨询。
设计
描述性定性。该人群是有亨廷顿舞蹈症家族史的人。样本是 17 名具有 HD 阳性家族史的无症状成年人，他们在 1995 年至 1996 年期间要求在一个三级遗传咨询项目中进行症状前基因鉴定。
方法
通过电话进行了半结构化访谈，内容涉及成年人寻求症状前基因检测的期望。访谈是在个人要求进行症状前基因鉴定之后、结果报告之前进行的。内容分析用于确定那些决定寻求症状前检测的人的期望和问题。
研究结果
常见的期望包括期望从不确定性中得到缓解、希望为未来的医疗保健和生活决定做好计划、想知道自己的孩子是否有患亨廷顿舞蹈症的风险、预计会失去亲戚的家庭支持、期望从自我监控中得到缓解、冒险进入未知世界以及计划披露信息。参与者试图通过拒绝向初级保健提供者寻求检测的决定来避免失去遗传隐私。
结论
寻求亨廷顿病症状前基因检测的参与者会考虑基因识别对自己及其家人的影响。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。
PURPOSE
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.
DESIGN
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.
METHODS
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.
FINDINGS
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.
CONCLUSIONS
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.
亨廷顿病基因检测心理调整的预测因素。
DOI：
10.1037//0278-6133.16.1.36
发表时间：
1997
期刊：
Health psychology : official journal of the Division of Health Psychology, American Psychological Association
影响因子：
--
作者：
Codori,AM;Slavney,PR;Young,C;Miglioretti,DL;Brandt,J
通讯作者：
Brandt,J
BRCA1 突变测试的心理反应：初步发现。
DOI：
10.1037//0278-6133.16.1.63
发表时间：
1997
期刊：
Health psychology : official journal of the Division of Health Psychology, American Psychological Association
影响因子：
--
作者：
Croyle,RT;Smith,KR;Botkin,JR;Baty,B;Nash,J
通讯作者：
Nash,J
亨廷顿病连锁测试的长期影响。
DOI：
--
发表时间：
1997
期刊：
American journal of medical genetics.
影响因子：
--
作者：
Taylor,CA;Myers,RH
通讯作者：
Myers,RH