Recontacting in light of new genetic diagnostic techniques for patients with intellectual disability: Feasibility and parental perspectives
Recontacting in light of new genetic diagnostic techniques for patients with intellectual disability: Feasibility and parental perspectives
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DOI：
10.1016/j.ejmg.2017.11.017
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发表时间：
2018-04-01
影响因子：
1.9
通讯作者：
Henneman, Lidewij
中科院分区：
文献类型：
--
作者：
Beunders, Gea;Dekker, Melodi;Henneman, Lidewij
新诊断技术的更高诊断率使没有因果诊断的智力残疾患者的重新评估变得有价值，目前只有在新的转诊后才能进行。主动重新联系可能会服务于更大的患者群体。我们的目的是评估父母对再次接触的看法及其在临床遗传学实践中的可行性。在两组智力残疾儿童中进行了重新联系试验。在A组中，通过电话重新联系父母，在B组中通过信件重新联系父母，邀请他们因为新技术(分别是阵列CGH和外显子组测序)而进行重新评估。采用自填问卷对家长的意见、偏好和再联系经验进行评估，评价试点的可行性，回收问卷114份，回收47份。总体而言，87%的父母认为所有父母都应该根据新的见解重新联系，17%的父母经历了(积极或消极的)情绪反应。在通过电话联系的A组中，36%的人重新预约了重新评估，而在B组中，通过信件联系的，4%的人进行了重新评估。大多数家长对重新联系持积极态度。重新联系可能会引起情绪反应，可能需要关注。重新联系是可行的，但很耗时，而且对临床遗传学家来说是一项巨大的额外责任。
A higher diagnostic yield from new diagnostic techniques makes re-evaluation in patients with intellectual disability without a causal diagnosis valuable, and is currently only performed after new referral. Active recontacting might serve a larger group of patients. We aimed to evaluate parental perspectives regarding recontacting and its feasibility in clinical genetic practice. A recontacting pilot was performed in two cohorts of children with intellectual disability. In cohort A, parents were recontacted by phone and in cohort B by letter, to invite them for a re-evaluation due to the new technologies (array CGH and exome sequencing, respectively). Parental opinions, preferences and experiences with recontacting were assessed by a self-administered questionnaire, and the feasibility of this pilot was evaluated.47 of 114 questionnaires were returned. In total, 87% of the parents believed that all parents should be recontacted in light of new insights, 17% experienced an (positive or negative) emotional reaction. In cohort A, approached by phone, 36% made a new appointment for re-evaluation, and in cohort B, approached by letter, 4% did.Most parents have positive opinions on recontacting. Recontacting might evoke emotional responses that may need attention. Recontacting is feasible but time-consuming and a large additional responsibility for clinical geneticists.