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トクトミ トモハル
Tomoharu Tokutomi
徳富 智明 所属 川崎医科大学 医学部 臨床医学 小児科学 職種 特任教授 |
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| 論文種別 | 原著 |
| 言語種別 | 英語 |
| 査読の有無 | 査読あり |
| 表題 | The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project. |
| 掲載誌名 | 正式名：Journal of human genetics ISSNコード：1434-5161/1435-232X |
| 掲載区分 | 国外 |
| 出版社 | Springer Science and Business Media LLC |
| 巻・号・頁 | 67(1),pp.9-17 |
| 著者・共著者 | Hiroshi Kawame,Akimune Fukushima,Nobuo Fuse,Fuji Nagami,Yoichi Suzuki,Mika Sakurai-Yageta,Jun Yasuda,Yumi Yamaguchi-Kabata,Kengo Kinoshita,Soichi Ogishima,Takako Takai,Shinichi Kuriyama,Atsushi Hozawa,Naoki Nakaya,Tomohiro Nakamura,Naoko Minegishi,Junichi Sugawara,Kichiya Suzuki,Hiroaki Tomita,Akira Uruno,Tomoko Kobayashi,Yayoi Aizawa,Tomoharu Tokutomi,Kayono Yamamoto,Kinuko Ohneda,Shigeo Kure,Yoko Aoki,Hideki Katagiri,Yasushi Ishigaki,Shojiro Sawada,Makoto Sasaki,Masayuki Yamamoto |
| 発行年月 | 2022/01 |
| 概要 | Certain large genome cohort studies attempt to return the individual genomic results to the participants; however, the implementation process and psychosocial impacts remain largely unknown. The Tohoku Medical Megabank Project has conducted large genome cohort studies of general residents. To implement the disclosure of individual genomic results, we extracted the potential challenges and obstacles. Major challenges include the determination of genes/disorders based on the current medical system in Japan, the storage of results, prevention of misunderstanding, and collaboration of medical professionals. To overcome these challenges, we plan to conduct multilayer pilot studies, which deal with different disorders/genes. We finally chose familial hypercholesterolemia (FH) as a target disease for the first pilot study. Of the 665 eligible candidates, 33.5% were interested in the pilot study and provided consent after an educational "genetics workshop" on the basic genetics and medical facts of FH. The genetics professionals disclosed the results to the participants. All positive participants were referred to medical care, and a serial questionnaire revealed no significant psychosocial distress after the disclosure. Return of genomic results to research participants was implemented using a well-prepared protocol. To further elucidate the impact of different disorders, we will perform multilayer pilot studies with different disorders, including actionable pharmacogenomics and hereditary tumor syndromes. |
| DOI | 10.1038/s10038-021-00952-8 |
| PMID | 34234266 |
| PermalinkURL | https://www.nature.com/articles/s10038-021-00952-8.pdf |
| researchmap用URL | https://www.nature.com/articles/s10038-021-00952-8 |