TY - JOUR
T1 - A proposal on the first Japanese practical guidance for the return of individual genomic results in research settings
AU - Aizawa, Yayoi
AU - Nagami, Fuji
AU - Ohashi, Noriko
AU - Kato, Kazuto
N1 - Funding Information:
Acknowledgements The authors thank all the interviewees who led the Japanese genome studies and were involved in genomic medicine. The work is supported by the Japan Agency for Medical Research and Development (grant number 18km0405301). FN and YA are supported by the Tohoku Medical Megabank Project through the Ministry of Education, Culture, Sports, Science and Technology, Japan; by the Reconstruction Agency, Japan; by Japan Agency for Medical Research and the Development; grant numbers JP19km0105001 and JP19km0105002. Authors also thanked all members of the Tohoku Medical Megabank Organization, Tohoku University, and the Department of Biomedical Ethics and Public Policy, at Osaka University.
Funding Information:
To understand the current circumstances affiliated with ROGRR, several investigations were conducted, including a literature review of previous studies on ROGRR, an examination of the relevant legislation in Japan, and interviews with stakeholders. Fifteen researchers and genomics experts were interviewed. In some interviews, interviewees’ collaborators participated, increasing the total number of interviewees to 20. The researchers interviewed were the principal investigators of the ten themes of the Japan Agency for Medical Research and the Development funded Platform Program for Promotion of Genome Medicine Advanced Genome R&D, which was selected as the main target for large-scale projects on human genome analysis. The five experts other than the researchers were selected purposively for their wide range of knowledge of the issues around ROGRR, including medical geneticists, an expert of clinical laboratory, and an individual with a genetic condition. All interviews were recorded and with the permission of the interviewees, summaries were subsequently created and classified as points of interest. Based on these results, we prepared drafts of the practical guidance for ROGRR for stakeholders in Japan that consist of “Points to consider” and “Issues for further discussion and consideration,” respectively. The drafts of the guidance were also reviewed by the five supervisors of the Japan Agency for Medical Research and the Development’s research project mentioned above. Feedback was requested from 20 groups including the interviewees. The final version of the guidance and the summery of the investigations described above were published on the Japan Agency for Medical Research and the Development website in Japanese [15].
Funding Information:
Act on the Protection of Personal Information Act on the Protection of Personal Information Held by Administrative Organs Act on the Protection of Personal Information Held by Incorporated Administrative Agencies Ordinances for the Protection of Personal Information Held by Local Governments Fundamental Principles of Research on the Human Genome (Council for Science and Technology, Bioethics Committee) Ethical Guidelines for Human Genome/Gene Analysis Research (MEXT, MHLW, METI) Ethical Guidelines for Medical and Health Research Involving Human Subjects (MEXT, MHLW)
Publisher Copyright:
© 2019, The Author(s), under exclusive licence to The Japan Society of Human Genetics.
Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2020/3/1
Y1 - 2020/3/1
N2 - 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.
AB - 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.
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U2 - 10.1038/s10038-019-0697-y
DO - 10.1038/s10038-019-0697-y
M3 - Article
C2 - 31873219
AN - SCOPUS:85077156048
VL - 65
SP - 251
EP - 261
JO - Journal of Human Genetics
JF - Journal of Human Genetics
SN - 1434-5161
IS - 3
ER -