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A proposal on the first Japanese practical guidance for the return of individual genomic results in research settings.
Journal of Human Genetics ( IF 3.5 ) Pub Date : 2019-12-23 , DOI: 10.1038/s10038-019-0697-y
Yayoi Aizawa 1, 2 , Fuji Nagami 1 , Noriko Ohashi 2, 3 , Kazuto Kato 2
Affiliation  

Large-scale, low-cost genome analysis has become possible with next-generation sequencing technology, which is currently used in research and clinical practice. Many attempts of returning individual genomic results have commenced not only in clinical practice, but also in research settings of several countries. In Japan, the government guidelines include a section on the disclosure of genetic information regarding genome analysis in research. However, no practical guidance for the return of individual genomic results in research settings (ROGRR) currently exists. We propose practical guidance regarding ROGRR in Japan based on extensive research, including a literature review of related previous studies, an examination of the relevant legislation in Japan, and interviews with stakeholders. The guidance we developed consists of "Points to consider" and "Issues for further discussion and consideration." The "Points to consider" were divided into five parts, from preliminary review before discussion of policy, to the actual return and follow-up process, in the order of the assumed ROGRR process. It is anticipated that a situation will arise where numerous research projects will consider ROGRR carefully and realistically in the future, and in the process of drafting such practical guidance, various issues requiring continuous discussion will emerge. The necessities of continuous discussion concerning ROGRR in Japan's context is increasing, particularly in terms of the ethical, legal, and social implications. We believe such discussions and considerations may contribute to creating a new system that will increase availability of personalized medicine and prevention using genetic information, allowing them to become useful to the broader population.

中文翻译:

关于在研究环境中返回个体基因组结果的第一个日本实用指南的提案。

下一代测序技术使大规模、低成本的基因组分析成为可能,该技术目前用于研究和临床实践。许多返回单个基因组结果的尝试不仅在临床实践中开始,而且在几个国家的研究环境中也开始了。在日本,政府的指导方针包括一个关于在研究中公开基因组分析的遗传信息的部分。然而,目前还没有关于在研究环境中返回单个基因组结果 (ROGRR) 的实用指南。我们在广泛研究的基础上提出了有关日本 ROGRR 的实用指南,包括对相关先前研究的文献回顾、对日本相关立法的审查以及与利益相关者的访谈。我们开发的指南包括“
更新日期:2019-12-23
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