National platform for Rare Diseases Data Registry of Japan

Yoshihiko Furusawa; Izumi Yamaguchi; Naoko Yagishita; Kazumasa Tanzawa; Fumihiko Matsuda; Yoshihisa Yamano; RADDAR‐J Research and Development Group

doi:10.1002/lrh2.10080

National platform for Rare Diseases Data Registry of Japan

Learn Health Syst. 2019 Jan 31;3(3):e10080. doi: 10.1002/lrh2.10080. eCollection 2019 Jul.

Authors

Yoshihiko Furusawa¹, Izumi Yamaguchi², Naoko Yagishita³, Kazumasa Tanzawa⁴, Fumihiko Matsuda², Yoshihisa Yamano³; RADDAR‐J Research and Development Group

Affiliations

¹ Department of Neurology National Center Hospital, National Center of Neurology and Psychiatry Kodaira Japan.
² Center for Genomic Medicine, Graduate School of Medicine Kyoto University Kyoto Japan.
³ Department of Rare Diseases Research Institute of Medical Science, St. Marianna University School of Medicine Kawasaki Japan.
⁴ Department of Business Strategy EPS Corporation Tokyo Japan.

Abstract

Introduction: In Japan, there are approximately 300 projects conducting research on rare diseases supported by the Ministry of Health, Labour and Welfare of Japan (MHLW) and the Japan Agency for Medical Research and Development (AMED). Diverse data, including clinical, genomic, and sample-related data, are generated by these projects. However, at present, such data are managed individually by each project. This makes it difficult for third parties to ascertain the data generated by projects.

Methods: Again this background, at the beginning of 2017, the AMED started the National Platform for Rare Diseases Data Registry of Japan (RADDAR-J), whose mission is to construct a cross-sectional data integration platform incorporating projects supported by the AMED and MHLW. RADDAR-J promotes data sharing by the projects in accordance with the data-sharing policy established by the AMED, which classifies data sharing into three categories based on the strategies used to protect the rights of researchers while promoting data sharing. RADDAR-J integrates and analyzes data shared by each project to add value to the resources and promote secondary use by third parties while protecting the rights of the researchers who shared their data. The platform is designed to provide incentives to projects that shared their data by supporting registry construction or genomic analysis to promote data sharing. RADDAR-J also has the function of data identification to securely integrate data originating from the same person. RADDAR-J accelerates clinical research by encouraging each project to utilize a central ethics committee.

Results/conclusion: The use of the platform by projects is expected to lead to streamlined data collection, improved quality assurance, improved access to data, and promotion of joint research and the secondary use of shared data. These benefits will accelerate research into diagnosis and treatment technologies and will hopefully lead to improved quality of life for patients with rare diseases.

Keywords: clinical information; data integration platform; data sharing; genomic information; rare disease; registry.