将基因检测纳入肌萎缩侧索硬化症/额颞叶变性谱系障碍患者的护理中。
Incorporating Genetic Testing Into the Care of Patients With Amyotrophic Lateral Sclerosis/Frontotemporal Degeneration Spectrum Disorders.
作者信息
Chambers Chelsea, Lichten Lauren, Crook Ashley, Uhlmann Wendy R, Dratch Laynie
机构信息
Department of Neurology (CC), University of Virginia, Charlottesville; Emory University School of Medicine (LL), Atlanta, GA; Macquarie University (AC); University of Technology Syndey (AC), Australia; University of Michigan (WRU), Ann Arbor; University of Pennsylvania (LD), Philadelphia.
出版信息
Neurol Clin Pract. 2023 Oct;13(5):e200201. doi: 10.1212/CPJ.0000000000200201. Epub 2023 Sep 15.
PURPOSE OF REVIEW
Amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD) spectrum disorders have a strong genetic component. Genetic counselors are a limited resource, and therefore, other providers must be prepared to integrate genetic testing into their practice.
RECENT FINDINGS
Recent ALS/FTD studies have demonstrated that lack of family history does not preclude a genetic etiology. The benefits of a genetic diagnosis have expanded to include the potential to treat; thus, genetic testing is increasingly recommended to be offered to all persons with ALS/FTD.
SUMMARY
Offering genetic testing to persons with ALS/FTD spectrum disorders should be part of routine clinical neurologic care. All genetic testing should include discussion about the medical and psychosocial implications of testing for the patient and family members. Neurologists should be prepared to facilitate this process and recognize when referral to a genetic counselor is indicated.
综述目的
肌萎缩侧索硬化症（ALS）和额颞叶变性（FTD）谱系障碍具有很强的遗传成分。遗传咨询师是有限的资源，因此，其他医疗服务提供者必须准备好将基因检测纳入他们的诊疗工作中。
最新发现
最近的ALS/FTD研究表明，缺乏家族病史并不排除遗传病因。基因诊断的益处已扩大到包括潜在的治疗可能性；因此，越来越多的人建议对所有ALS/FTD患者进行基因检测。
总结
对ALS/FTD谱系障碍患者进行基因检测应成为常规临床神经科护理的一部分。所有基因检测都应包括与患者及其家庭成员讨论检测的医学和心理社会影响。神经科医生应准备好推动这一过程，并识别何时需要转诊给遗传咨询师。
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