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Online questionnaire on genetic testing for intractable diseases in Japan: response to and issues associated with the revised medical care act
Journal of Human Genetics ( IF 3.5 ) Pub Date : 2021-05-31 , DOI: 10.1038/s10038-021-00926-w
Kaori Adachi 1 , Kazuhito Satou 2 , Eiji Nanba 3, 4
Affiliation  

In Japan, most genetic testing for intractable diseases has been conducted in research laboratories in the past. However, since the Revised Medical Care Act came into effect on December 1, 2018, genetic testing in compliance with this act has become a major issue. To collect information on this topic, we conducted an online survey of members of the research groups for intractable diseases, which play a central role in medical care and research on intractable diseases with the support of the Ministry of Health, Labor and Welfare, five months after the enactment of the act. We separated the surveyed facilities into those that conducted genetic testing in their own laboratories (“testing facilities”) and those that outsourced genetic testing (“outsourcing facilities”). Ninety-five and 66 responses regarding genetic testing were obtained from the testing and outsourcing facilities, respectively. Genetic analysis was the most commonly conducted genetic testing method, accounting for 60% or more of the tests. At the testing facilities that conducted comprehensive analysis with a next-generation sequencer, the number of target diseases for genetic testing was observed to be higher. In these testing facilities, more than 70% were research laboratories. In contrast, at the outsourcing facilities, testing was outsourced to registered clinical laboratories in many cases or to research laboratories. The proportion of genetic testing covered by public medical insurance at the outsourcing facilities was two times higher than that at the testing facilities. The importance of quality control for genetic testing was generally well acknowledged, but there was apprehension regarding the increased cost and burden on staff of quality control assurance, and many testing facilities viewed genetic testing as difficult. The research groups could handle the examination and interpretation of the genetic testing results, and many groups gathered and registered patient information. Within the intractable disease medical support network, there was a relatively large number of collaborations, with studies supported by the Japan Agency for Medical Research and Development (AMED) and Initiative on Rare and Undiagnosed Diseases (IRUD) projects. There were many requests for genetic testing to be covered by public medical insurance. In the future, the implementation of genetic testing using a next-generation sequencer at clinical laboratories with guaranteed quality control and the development of a system for collaboration with research groups will be necessary.



中文翻译:

日本顽固性疾病基因检测在线问卷调查:对修订后的医疗法案的回应和相关问题

在日本,过去大多数顽固性疾病的基因检测都是在研究实验室进行的。然而,自从修订后的医疗法案于 2018 年 12 月 1 日生效以来,符合该法案的基因检测已成为一个重大问题。为了收集有关该主题的信息,我们在厚生劳动省的支持下,对在医疗保健和疑难病研究中发挥核心作用的疑难病研究小组的成员进行了为期五个月的在线调查法案颁布后。我们将调查的设施分为在自己的实验室进行基因检测的设施(“测试设施”)和外包基因检测的设施(“外包设施”)。分别从检测和外包设施获得了 95 份和 66 份关于基因检测的回复。基因分析是最常用的基因检测方法,占检测的60%以上。在使用下一代测序仪进行综合分析的检测设施中,观察到基因检测的目标疾病数量更多。在这些测试设施中,超过 70% 是研究实验室。相比之下,在外包设施中,测试在许多情况下外包给注册的临床实验室或研究实验室。外包设施的公共医疗保险覆盖的基因检测比例是检测设施的两倍。基因检测质量控制的重要性得到普遍认可,但人们担心质量控制保证人员的成本和负担增加,许多检测机构认为基因检测很困难。研究小组可以处理基因检测结果的检查和解释,许多小组收集和登记患者信息。在疑难病医疗支持网络中,有较多的合作,研究得到了日本医学研究与发展机构 (AMED) 和罕见病和未确诊疾病倡议 (IRUD) 项目的支持。有许多要求将基因检测纳入公共医疗保险的要求。将来,

更新日期:2021-05-31
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