a Division of Human Genetics , The Ohio State University Medical Center , Columbus , OH , USA.
b Division of Biostatistics , The Ohio State University , Columbus , OH , USA.
Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):216-221. doi: 10.1080/21678421.2019.1582670. Epub 2019 Apr 1.
Recent advances in ALS gene discovery have both empowered and challenged clinicians providing evaluation and care for persons with ALS, many of whom seek an answer as to the cause of their condition. In order to study clinician practices and attitudes towards genetic testing, we surveyed members of the Northeast ALS Consortium, an international group of specialist ALS clinicians; responses were received from 80 of 255 (response rate = 31.4%). While 92.3% indicated they offered genetic testing to patients with familial ALS, 57.0% offered testing to patients with ALS and a family history of dementia, and 36.9% offered testing to patients with sporadic ALS, revealing a lack of consensus with respect to the approach to the typical ALS patient encountered in clinical practice. In addition, comparison of clinician and patient attitudes towards genetic testing revealed that clinicians valued the scientific potential of testing, but were less likely to say they would have testing themselves, or to see the value in testing for family members. People with ALS were more likely to see value of testing for themselves and for family members, and less likely to strongly value the scientific potential of testing.
近年来，肌萎缩侧索硬化症（ALS）基因发现方面的进展，既为为 ALS 患者提供评估和护理的临床医生提供了帮助，也带来了挑战，因为许多患者都希望了解其病情的病因。为了研究临床医生在基因检测方面的实践和态度，我们调查了东北肌萎缩侧索硬化症联盟（Northeast ALS Consortium）的成员，该联盟是一个国际 ALS 专家临床医生组织；共收到了 255 名成员中的 80 名（回复率=31.4%）的回复。尽管 92.3%的人表示他们为家族性 ALS 患者提供基因检测，但 57.0%的人表示为有 ALS 家族史和痴呆症的患者提供检测，36.9%的人表示为散发性 ALS 患者提供检测，这表明在如何对待临床实践中遇到的典型 ALS 患者方面，缺乏共识。此外，临床医生和患者对基因检测的态度比较表明，临床医生重视检测的科学潜力，但不太可能表示他们自己会进行检测，或者认为检测对家庭成员有价值。ALS 患者更有可能看到自己和家庭成员进行检测的价值，而不太可能强烈重视检测的科学潜力。
