Wagner Karin N, Nagaraja Haikady, Allain Dawn C, Quick Adam, Kolb Stephen, Roggenbuck Jennifer
Genetic Counseling Graduate Program, The Ohio State University, Columbus, OH, USA.
Division of Biostatistics, The Ohio State University, Columbus, OH, USA.
J Genet Couns. 2017 Jun;26(3):604-611. doi: 10.1007/s10897-016-0034-y. Epub 2016 Oct 20.
Although genetic testing for amyotrophic lateral sclerosis (ALS) is widely available, it is unknown what proportion of patients with ALS have access to genetic counseling and testing, and patient attitudes towards ALS genetic testing have not been studied. We conducted a national survey of ALS patients enrolled in the Agency for Toxic Substances and Disease Registry, which consisted of multiple choice questions and two 12 item Likert scale series assessing respondents' experience with and attitude toward genetic testing. The survey had an 8 % response rate, with 449 completed responses. Genetic testing was offered to 33.4 % and completed by 67.1 % of those offered. A minority of respondents (12.5 %) saw a genetic counselor, and were much more likely to be offered genetic testing (p = 0.0001). Respondents with a family history of ALS (8.4 %) were more likely to be offered testing (p = 0.0001) and complete testing (p = 0.05). Respondents with a family history of ALS were more likely to report a favorable attitude towards genetic testing (p = 0.0003), as were respondents who saw a genetic counselor (p = 0.02). The majority of respondents (82.7 %) felt that genetic testing should be offered to all patients with ALS. Our results indicate that ALS patients may have limited access to genetic testing, but perceive benefit from this service. Development of practice guidelines for genetic testing in ALS, to include the routine offer of genetic counseling, may result in broader and more consistent access to these services.
尽管肌萎缩侧索硬化症（ALS）的基因检测已广泛开展，但尚不清楚ALS患者中接受基因咨询和检测的比例，且患者对ALS基因检测的态度也未得到研究。我们对参加有毒物质和疾病登记署的ALS患者进行了一项全国性调查，该调查由多项选择题和两个包含12个条目的李克特量表系列组成，用于评估受访者的基因检测经历和态度。该调查的回复率为8%，共收到449份完整回复。33.4%的受访者接受了基因检测，其中67.1%完成了检测。少数受访者（12.5%）咨询过遗传咨询师，且接受基因检测的可能性更高（p = 0.0001）。有ALS家族史的受访者（8.4%）接受检测的可能性更高（p = 0.0001）且完成检测的可能性更高（p = 0.05）。有ALS家族史的受访者对基因检测持更积极态度的可能性更高（p = 0.0003），咨询过遗传咨询师的受访者也是如此（p = 0.02）。大多数受访者（82.7%）认为应向所有ALS患者提供基因检测。我们的结果表明，ALS患者接受基因检测的机会可能有限，但认为这项服务有益。制定ALS基因检测的实践指南，包括常规提供基因咨询，可能会使更多患者更一致地获得这些服务。
