Genetic testing has become routine for many inherited conditions; however, little is known about the unique issues that arise when offering genetic testing for inherited forms of dementia. To better understand the patient perspective, we surveyed study participants about their experiences as they underwent genetic counseling and genetic testing for dementia. We recruited 50 pairs of subjects. Each pair was comprised of one person with cognitive impairment and a cognitively intact co-participant. Study participants received pre- and post-test genetic counseling and comprehensive genetic testing for dementia. During the study, participant pairs completed four surveys which asked about their experience. Testing began with a 38 gene dementia panel. Participants with negative panel results or variants of uncertain significance (VUS) were reflexed to exome sequencing (ES). Twenty-nine participants (58%) reported that their primary motivation to join the study was for the benefit to their families. Fifty-two percent of participants initially planned to use their test results to make health and wellness changes, but, six months after disclosure, only 31% had done so. Six months after result disclosure, approximately 90% of participant pairs accurately recalled their genetic test results. Overall satisfaction with testing was high, and decision regret was negligible. This observational study describes the experiences of study participants undergoing genetic counseling and genetic testing for dementia and found that most participant pairs accurately recalled their results up to six months following disclosure while also maintaining high levels of satisfaction without decision regret. These findings suggest that, in the context of genetic counseling, genetic testing can be effectively used in this population.

中文翻译：

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早发性和家族性痴呆的遗传咨询：患者对外显子组测序的看法

对于许多遗传性疾病，基因检测已成为常规；然而，对遗传性痴呆症进行基因检测时出现的独特问题知之甚少。为了更好地理解患者的观点，我们调查了研究参与者在接受痴呆症遗传咨询和基因检测时的经历。我们招募了 50 对受试者。每对由一名认知障碍者和一名认知完整的共同参与者组成。研究参与者接受了测试前和测试后的遗传咨询和全面的痴呆症基因检测。在研究期间，参与者对完成了四项调查，询问他们的经历。测试从一个 38 基因的痴呆面板开始。具有阴性面板结果或不确定意义的变异 (VUS) 的参与者被反射到外显子组测序 (ES)。29 名参与者 (58%) 表示他们参加研究的主要动机是为了家人的利益。52% 的参与者最初计划使用他们的测试结果来改变健康状况，但在披露六个月后，只有 31% 的人这样做了。结果公布六个月后，大约 90% 的参与者对准确回忆了他们的基因测试结果。对测试的总体满意度很高，决策后悔可以忽略不计。这项观察性研究描述了接受痴呆症遗传咨询和基因检测的研究参与者的经历，发现大多数参与者在披露后最多六个月内准确地回忆起他们的结果，同时保持高度的满意度，而不会后悔做出决定。这些发现表明，在遗传咨询的背景下，基因检测可以有效地用于该人群。