针对神经发育障碍的基因组信息的神经心理护理:来自多学科诊所的结果
Aaron D Besterman1, David J Adams2, Nicole R Wong3
1Division of Child and Adolescent Psychiatry, University of California San Diego Department of Psychiatry, San Diego, CA; Rady Children's Hospital of San Diego, San Diego, CA; Rady Children's Institute for Genomic Medicine, San Diego, CA.
一个基因组学知情的诊所显著改善了神经发育障碍 (NDD) 的诊断和管理. 基因检测在近一半的患者中发现了致病变体,导致了直接的临床护理变化.
科学领域:
- 神经遗传学 神经遗传学
- 基因组医学是基因组医学.
- 神经精神病学是一种神经精神病学.
背景情况:
- 神经发育障碍 (NDD) 经常伴随神经精神病的并发症.
- 基因组医学有可能改善NDD的诊断和管理策略.
- 致病变体在多达50%的NDD患者中被发现.
研究的目的:
- 评估基因组学知情,多学科,神经精神病学专科诊所对NDD患者护理的影响.
- 评估在NDD中基因测试的诊断产量和临床实用性.
主要方法:
- 在一个专门的神经遗传学诊所对316名患者进行了回顾性研究.
- 基因检测结果的分析和随后的临床管理变化.
主要成果:
- 在246名测试患者中,基因测试在41.8%的患者中发现了致病或可能致病的变体.
- 确定了62种不同的遗传诊断.
- 基因诊断直接改变了所有被诊断的患者的临床管理,包括级联测试,咨询,药物调整和转诊.
结论:
- 一个基因组学知情的临床模型为患有NDD的患者提供了巨大的好处.
- 建立基因诊断对于有效管理至关重要,因为精确治疗方法不断发展.
- 临床医师培训应侧重于基因组医学原则,因为罕见的神经遗传性疾病的数量越来越多.
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