Predictive testing for neurodegenerative diseases in the age of next-generation sequencing.
Predictive testing for neurodegenerative diseases in the age of next-generation sequencing.
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DOI：
10.1002/jgc4.1342
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发表时间：
2020-10-08
影响因子：
1.9
通讯作者：
Marder, Karen
中科院分区：
文献类型：
--
作者：
Goldman, Jill;Xie, Shanghong;Green, Dina;Naini, Ali;Mansukhani, Mahesh M.;Marder, Karen
关键词：
下一代测序（NSG）的可用性和成本现在允许同时测试大量基因。然而，预测性检测的金标准是只检测已知的家族突变或确诊的家族疾病。本研究的目的是研究与已知家族突变的单基因检测相比，使用下一代测序面板对无已知家族突变的常染色体显性遗传神经退行性疾病进行预测检测的心理影响。来自已知突变家族的14名个体和10名未知家族突变的个体参与了研究。参与者在基线和收到结果后1个月和6个月完成了关于人口统计学，遗传知识和焦虑，抑郁，自我控制感，反刍和不容忍不确定性的心理测量的问卷。在收到结果后的1个月和6个月测量决策后悔。参与者完成了修改后的亨廷顿病基因检测方案，并进行了遗传咨询以及神经和心理评估。对已知的家族突变或神经退行性疾病基因的NGS面板进行基因检测。半结构化访谈进行了6个月后的结果，他们的经验。对每个时间点收集的数据进行双样本t检验，以确定人口统计学变量、基线心理评分和基线遗传知识评分的显著组间差异。通过混合效应模型评估组内随时间的变化。本研究的结果表明，当在改良的HD方案中进行时，用于神经退行性疾病预测测试的NGS面板对参与者是安全和有益的。虽然发现心理结果存在显着差异，但这些差异可能是由遗传结果和组内个体之间的基线心理差异驱动的。参与者并不后悔他们的测试决定，并且对测试协议很满意。
The availability and cost of next-generation sequencing (NSG) now allow testing large numbers of genes simultaneously. However, the gold standard for predictive testing has been to test only for a known family mutation or confirmed family disease. The goal of this study was to investigate the psychological impact of predictive testing for autosomal dominant neurodegenerative diseases without a known family mutation using next-generation sequencing panels compared to single-gene testing of a known family mutation. Fourteen individuals from families with a known mutation and 10 individuals with unknown family mutations participated. Participants completed questionnaires on demographics, genetic knowledge, and psychological measures of anxiety, depression, perceived personal control, rumination, and intolerance to uncertainty at baseline and 1 and 6 months after receiving results. Decision regret was measured 1 and 6 months after receiving results. Participants completed a modified Huntington disease genetic testing protocol with genetic counseling and neurological and psychological evaluation. Genetic testing of either the known family mutation or an NGS panel of neurodegenerative disease genes was performed. Semi-structured interviews were performed at 6 months post-results about their experience. Two-sample t tests were performed on data collected at each time point to identify significant between-group differences in demographic variables, baseline psychological scores, and baseline genetic knowledge scores. Within-group change over time was assessed by a mixed-effects model. Results of this study indicate that NGS panels for predictive testing for neurodegenerative disease are safe and beneficial to participants when performed within a modified HD protocol. Though significant differences in psychological outcomes were found, these differences may have been driven by genetic results and baseline psychological differences between individuals within the groups. Participants did not regret their decision to test and were largely pleased with the testing protocol.
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影响因子：
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