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Predictive genetic testing in Huntington's disease: should a neurologist be involved?
European Journal of Human Genetics ( IF 5.2 ) Pub Date : 2020-05-13 , DOI: 10.1038/s41431-020-0633-9
Mayke Oosterloo 1, 2 , Emilia K Bijlsma 3 , Corien C Verschuuren-Bemelmans 4 , Meyke I Schouten 5 , Christine de Die-Smulders 6 , Raymund A C Roos 2
Affiliation  

International guidelines on Huntington's Disease recommend neurological examination in the predictive testing trajectory. Experiences and personal wishes of persons at risk of Huntington's Disease regarding this topic have never been evaluated. The objective was to provide an overview of the experiences of Dutch at-risk persons, opting for predictive testing, in consulting a neurologist before and after DNA analysis. Persons who were counseled in four Dutch clinics between 2017 and 2019 were retrospectively or prospectively approached for a questionnaire which listed topics as experiences with consultation and personal wishes. From 71 participants, 44 participants visited a neurologist. 41 participants indicated their visit to a neurologist as positive (93.2%). The majority of participants (n = 59) desired consulting a neurologist. Thirty-two participants indicated consultation shortly after (Desired After Group) and twenty-seven before DNA analysis (Desired Before Group) as personal wish. The Desired Before Group consisted of a significantly higher number of participants who actually consulted a neurologist before predictive testing (n = 26) compared with the number of participants who actually consulted a neurologist after DNA analysis in the Desired After Group (n = 11) (p < 0.001). The Desired After Group (n = 19) had a significantly higher number of Huntington's disease gene expansion carriers compared with the Desired Before Group (n = 5) (p 0.003). Participants are content with consultation. However, persons without the gene expansion still feel the need to get in touch with a neurologist. Therefore, offering a consultation with a neurologist before DNA analysis might be beneficial for all.

中文翻译:

亨廷顿舞蹈病的预测基因测试:是否应聘请神经科医生?

关于亨廷顿舞蹈病的国际指南建议在预测性测试轨迹中进行神经系统检查。从未评估过亨廷顿氏病风险患者的经验和个人意愿。目的是概述荷兰高危人群在进行DNA分析之前和之后向神经科医生咨询时选择预测性测试的经历。回顾性或前瞻性地向2017年至2019年间在四家荷兰诊所接受咨询的人员进行问卷调查,该问卷列出了一些主题,这些主题包括咨询和个人意愿。在71位参与者中,有44位参与者拜访了神经科医生。41位参与者表示他们去看神经科医师为阳性(93.2%)。大多数参与者(n = 59)希望咨询神经科医生。根据个人意愿,有32位参与者表示在咨询后不久(小组之后需要)和27个在DNA分析之前(小组之前需要)进行咨询。``之前需要的组''由在``期望之后''组中进行DNA分析后实际咨询神经科医生的参与者(n = 11)的人数明显多于(``期望后''组)(n = 11)( p <0.001)。与期望前组(n = 5)相比,期望后组(n = 19)的亨廷顿舞蹈病基因扩增载体的数量明显多(p = 0.003)。参加者对咨询感到满意。但是,没有基因扩增的人仍然感到需要与神经科医生联系。因此,
更新日期:2020-05-13
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