Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis.
Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis.
复制标题
DOI：
10.1097/gim.0b013e318204d004
复制
发表时间：
2011-04
期刊：
影响因子：
--
通讯作者：
Benatar M
中科院分区：
文献类型：
--
作者：
Fanos JH;Gronka S;Wuu J;Stanislaw C;Andersen PM;Benatar M
Pre-fALS是一项对有可能发生家族性肌萎缩侧索硬化症（fALS）风险的个体进行的纵向研究。我们的目标是：1）探索参与者是否决定了解症状前测试的结果; 2）了解这些决定的心理社会影响; 3）评估通过电话或亲自接收结果的偏好。该子研究的样本包括从Pre-fALS研究中的常染色体显性突变SOD 1（mtSOD 1）家族中随机抽取的20名参与者。20名参与者完成了半结构化的电话采访，突出的主题进行了确定和评级。14名参与者选择学习结果; 6人患有mtSOD 1，8人患有wtSOD 1。在最初选择不披露的6人中，有3人正在重新考虑他们的决定。不管咨询的结果和方法如何，参与者都适应得很好，至少在短期内是这样。我们建议：1）那些考虑症状前基因检测的人应该接受专业咨询，以帮助决定是否了解结果; 2）讨论应该包括电话遗传咨询的选择，对于那些无法方便地获得面对面咨询的人; 3）那些最初拒绝了解结果的人应该有机会了解他们的突变状态，因为他们的决定正在演变。
Pre-fALS is a longitudinal study of individuals potentially at risk for developing familial amyotrophic lateral sclerosis (fALS). Our goals were to: 1) explore participants’ decisions whether or not to learn results of pre-symptomatic testing; 2) understand the psychosocial impact of these decisions; 3) assess preferences for receiving results by telephone or in-person. The sample for this sub-study comprised 20 participants drawn randomly from autosomal dominant mutant SOD1 (mtSOD1) families in the Pre-fALS study. Twenty participants completed a semi-structured phone interview; prominent themes were identified and rated. Fourteen participants chose to learn results; 6 had mtSOD1 and 8 had wtSOD1. Of the 6 who initially elected non-disclosure, 3 were reconsidering their decision. Regardless of the results and method of counseling, participants had adapted well, at least in the short-term. We recommend: 1) those considering pre-symptomatic genetic testing should undergo professional counseling to help decide whether to learn results; 2) discussion should include the option of telephone genetic counseling for those without easy access to in-person counseling; 3) those who initially decline to learn results should be offered the opportunity to learn their mutation status as their decision evolves.