Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan
Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan
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日本迟发性遗传性神经系统疾病预测基因检测的全国跟踪调查
DOI：
10.1038/jhg.2013.34
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发表时间：
2013
期刊：
影响因子：
3.5
通讯作者：
Fukushima Y
中科院分区：
文献类型：
--
作者：
Tanaka K;Sekijima Y;Yoshida K;Tamai M;Kosho T;Sakurai A;Wakui K;Ikeda SI;Fukushima Y
日本对迟发性神经系统疾病的预测基因测试进行了一项全国范围的跟踪调查。向日本国家医学遗传学临床部门联络委员会的89名机构成员发出了调查问卷，其中60人(67.4%)得到了回复。从2006年4月到2011年3月，共有301名客户对预测测试感兴趣。最感兴趣的是脊髓小脑变性(SCD，n=110)，其次是强直性肌营养不良1型(DM1，n=69)，亨廷顿病(HD，n=52)和家族性淀粉样多发性神经病(FAP，n=35)。实际接受预测测试的客户比例为：SCD，21.8%；DM1，39.1%；HD，26.9%；FAP，74.3%，这表明在日本，对无法治愈的神经疾病进行预测测试非常谨慎。临床遗传学家主要参与遗传咨询，而非医生(非MD)工作人员，包括护士、临床心理学家和遗传顾问的参与并不常见。缺乏非MD咨询人员是进行预测性测试最严重的问题之一，自2006年进行上一次调查以来，这一问题一直没有得到改善。为了解决这一问题，可能需要制度安排，如修订有关基因检测和咨询的医疗保险制度。
A follow-up nationwide survey on predictive genetic testing for late-onset neurological diseases in Japan was conducted. A questionnaire was sent to 89 institutional members of the Japan’s National Liaison Council for Clinical Sections of Medical Genetics, and was returned by 60 (67.4%). A total of 301 clients with an interest in predictive testing were accumulated from April 2006 to March 2011. The greatest interest was shown for spinocerebellar degeneration (SCD, n= 110), followed by myotonic dystrophy type 1 (DM1, n= 69), Huntington’s disease (HD, n= 52) and familial amyloid polyneuropathy (FAP, n= 35). The ratios of clients who actually underwent predictive testing were: SCD, 21.8%; DM1, 39.1%; HD, 26.9%; and FAP, 74.3%, indicating that predictive testing was conducted very cautiously for untreatable neurological diseases in Japan. Clinical geneticists were predominantly involved in genetic counseling, whereas the participation of non-medical doctor (non-MD) staff, including nurses, clinical psychologists and genetic counselors, was not common. Lack of non-MD counseling staff was one of the most serious issues in conducting predictive testing, which has not been improved since the previous survey performed in 2006. Institutional arrangements, such as revision of medical insurance system regarding genetic testing and counseling, might be necessary to resolve this issue.