Examination of issues for utilizing genome analysis research information in medicine

• Project/Area Number: 15K08539
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Medical sociology
• Research Institution: Tohoku University
• Principal Investigator: Nagami Fuji 東北大学, 東北メディカル・メガバンク機構, 特任教授 (80501957)
• Co-Investigator(Kenkyū-buntansha): 荻島 創一 東北大学, 東北メディカル・メガバンク機構, 教授 (40447496)
• Project Period (FY): 2015-04-01 – 2019-03-31
• Project Status: Completed (Fiscal Year 2018)
• Budget Amount: ¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000); Fiscal Year 2017: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000); Fiscal Year 2016: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000); Fiscal Year 2015: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
• Keywords: 遺伝情報 / 医療情報 / ゲノム医科学 / バイオバンク / ゲノム医療 / 遺伝情報返却 / EHR

Outline of Final Research Achievements

Based on the survey, we clarified that in Japanese major cohort studies and biobanks, the return of genomic results to the research participants are rarely implemented, and then consider the framework for providing the results of genomic analysis in research to medical institutions. In Japan, a protocol to connect to a medical institution after the return to the participant her/himself is conducted only on a trial basis. Even in advanced approaches carried out in Shizuoka, Shimane, and Okinawa, there are one-way flow of information from medical institutions to the research project. A survey of US efforts has also highlighted the importance of defining the entire framework after securing clinical equivalent quality such as quality control.

Academic Significance and Societal Importance of the Research Achievements

遺伝情報の解析は、DTCはじめとした商業的な進展も相俟って、一般住民にとってもますます手の届きやすい、日常的なものになってきている。研究の枠組みにおいて行われた遺伝情報解析の結果について、どのような課題を克服していくことで医療に役立てていくことができるかを検討したことは、必ずしも多くない我が国の医療資源を有効に活用していく上でも、社会的にも有意義なことであると考えられる。

Research Products

• [Journal Article] Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare (2018)
  • Author(s): Yasuda Jun、Kinoshita Kengo、et al.,
  • Journal Title: The Journal of Biochemistry Volume: 165 Issue: 2 Pages: 139-158
  • DOI: 10.1093/jb/mvy096
  • NAID: 40021809939
  • Peer Reviewed / Open Access
• [Journal Article] Authentication of Patients and Participants in Health Information Exchange and Consent for Medical Research: A Key Step for Privacy Protection, Respect for Autonomy, and Trustworthiness (2018)
  • Author(s): Kogetsu Atsushi、Ogishima Soichi、Kato Kazuto
  • Journal Title: Frontiers in Genetics Volume: 9 Pages: 167-167
  • DOI: 10.3389/fgene.2018.00167
  • Peer Reviewed / Open Access
• [Journal Article] Omics research project on prospective cohort studies from the Tohoku Medical Megabank Project (2018)
  • Author(s): Koshiba, S., （途中略）, Yamamoto, M.（合計２１名、本研究者は１番目）
  • Journal Title: Genes Cells Volume: 23 Issue: 6 Pages: 406
  • DOI: 10.1111/gtc.12588
  • URL: https://localhost/en/publications/6383ce37-5ea4-4f7e-8493-1d86eac8314c
  • Peer Reviewed / Open Access
• [Journal Article] Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes (2018)
  • Author(s): Malik R, Chauhan G, Traylor M, Minegishi N, AFGen Consortium,BioBank Japan Cooperative Hospital Group; MEGASTROKE Consortium
  • Journal Title: Nat Genet Volume: 50 Issue: 4 Pages: 524-537
  • DOI: 10.1038/s41588-018-0058-3
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Severity of eczema and mental health problems in Japanese schoolchildren: The ToMMo Child Health Study (2018)
  • Author(s): Kuniyoshi Yasutaka、Kikuya Masahiro、Miyashita Masako、Yamanaka Chizuru、Ishikuro Mami、Obara Taku、Metoki Hirohito、Nakaya Naoki、Nagami Fuji、Tomita Hiroaki、Hozawa Atsushi、Tsuji Ichiro、Kure Shigeo、Yaegashi Nobuo、Yamamoto Masayuki、Kuriyama Shinichi
  • Journal Title: Allergology International Volume: 67 Issue: 4 Pages: 481-486
  • DOI: 10.1016/j.alit.2018.02.009
  • ISSN: 1323-8930, 1440-1592
  • URL: https://pure.teikyo.jp/en/publications/adaf1220-7910-40c8-b406-177724193608
  • Peer Reviewed
• [Journal Article] Strategic Methods for Recruiting Grandparents: The Tohoku Medical Megabank Birth and Three-Generation Cohort Study (2018)
  • Author(s): Ishikuro Mami、Obara Taku、Osanai Tamae、Yamanaka Chizuru、Sato Yuki、Mizuno Satoshi、Miyashita Masako、Kikuya Masahiro、Sakurai Kasumi、Hozawa Atsushi、Tomita Hiroaki、Taki Yasuyuki、Nagami Fuji、Metoki Hirohito、Kuriyama Shinichi
  • Journal Title: The Tohoku Journal of Experimental Medicine Volume: 246 Issue: 2 Pages: 97-105
  • DOI: 10.1620/tjem.246.97
  • NAID: 130007499816
  • ISSN: 0040-8727, 1349-3329
  • Peer Reviewed
• [Journal Article] Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals article (2018)
  • Author(s): Y Yamaguchi-Kabata, J Yasuda, O Tanabe, Y Suzuki, H Kawame, N Fuse, M Nagasaki, Y Kawai, K Kojima, F Katsuoka, S Saito, I Danjoh, I Motoike, R Yamashita, S Koshiba, D Saigusa, G Tamiya, S Kure, N Yaegashi, Y Kawaguchi, F Nagami, S Kuriyama, J Sugawara, N Minegishi, A Hozawa, T Takai-Igarashi, K Kinoshita, M Yamamoto.
  • Journal Title: Journal of Human Genetics. Volume: 63 Issue: 2 Pages: 213
  • DOI: 10.1038/s10038-017-0347-1
  • URL: https://pure.teikyo.jp/en/publications/68f9baf0-ba55-4278-8354-a10148b91802
  • Peer Reviewed / Open Access
• [Journal Article] Security controls in an integrated Biobank to protect privacy in data sharing: rationale and study design (2017)
  • Author(s): Takai-Igarashi T, Kinoshita K, Nagasaki M, Ogishima S, Nakamura N, Nagase S, Nagaie S, Saito T, Nagami F, Minegishi N, Suzuki Y, Suzuki K, Hashizume H, Kuriyama S, Hozawa A, Yaegashi N, Kure S, Tamiya G, Kawaguchi Y, Tanaka H, Yamamoto M
  • Journal Title: BMC Med Inform Decis Mak Volume: 17 Issue: 1 Pages: 100-100
  • DOI: 10.1186/s12911-017-0494-5
  • Peer Reviewed / Open Access
• [Journal Article] Identification of six novel genetic loci associated with atrial fibrillation in Japanese population. (2017)
  • Author(s): Low SK, Takahashi A, Ebana Y, Ozaki K, Christophersen IE, Ellinor PT, AFGen Consortium, Ogishima S, Yamamoto M, Satoh M, Sasaki M, Yamaji T, Iwasaki M, Tsugane S, Tanaka K, Naito M, Wakai K, Tanaka H, Furukawa T, Kubo M, Ito K, Kamatani Y, Tanaka T.
  • Journal Title: Nature Genetics Volume: - Issue: 6 Pages: 953-958
  • DOI: 10.1038/ng.3842
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] FANTOM5 CAGE profiles of human and mouse samples (2017)
  • Author(s): Noguchi Shuhei、Arakawa Takahiro、Ogishima Soichi、ほか
  • Journal Title: Sci Data Volume: 4 Issue: 1 Pages: 170112-170112
  • DOI: 10.1038/sdata.2017.112
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] The Human Phenotype Ontology in 2017. (2017)
  • Author(s): Kohler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Ayme S, Baynam G, Bello SM, ... Ogishima S, ...Haendel M.
  • Journal Title: Nucleic Acids Res Volume: 45(D1) Issue: D1 Pages: D865-D876
  • DOI: 10.1093/nar/gkw1039
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] The Tohoku Medical Megabank Project: Design and Mission (2016)
  • Author(s): Kuriyama S, Yaegashi N, et al. (Tamiya G; 11th in 58 authors)
  • Journal Title: Journal of Epidemiology Volume: 26 Issue: 9 Pages: 493-511
  • DOI: 10.2188/jea.JE20150268
  • NAID: 130005409018
  • ISSN: 0917-5040, 1349-9092
  • Peer Reviewed / Open Access
• [Journal Article] Monitoring of minimal residual disease in early T-cell precursor acute lymphoblastic leukaemia by next-generation sequencing (2016)
  • Author(s): Pan X, Nariai N, Fukuhara N, Saito S, Sato Y, Katsuoka F, Kojima K, Kuroki Y, Danjoh I, Saito R, Hasegawa S, Okitsu Y, Kondo A, Onishi Y, Nagami F, Kiyomoto H, Hozawa A, Fuse N, Nagasaki M, Shimizu R, Yasuda J, Harigae H, Yamamoto M
  • Journal Title: Br J Haematol Volume: in press Issue: 2 Pages: 318-321
  • DOI: 10.1111/bjh.13948
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] The Pre-Eclampsia Ontology: A Disease Ontology Representing the Domain Knowledge Specific to Pre-Eclampsia. (2016)
  • Author(s): Mizuno S, Ogishima S, Nishigori H, Jamieson DG, Verspoor K, Tanaka H, Yaegashi N, Nakaya J.
  • Journal Title: PLoS One Volume: 11(10) Issue: 10 Pages: e0162828-e0162828
  • DOI: 10.1371/journal.pone.0162828
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] The structural origin of metabolic quantitative diversity (2016)
  • Author(s): Koshiba S, Motoike I, Kojima K, Hasegawa T, Shirota M, Saito T, Saigusa D, Danjoh I, Katsuoka F, Ogishima S, ... Yamamoto M.
  • Journal Title: Sci Rep Volume: 6 Issue: 1 Pages: 31463-31463
  • DOI: 10.1038/srep31463
  • URL: https://pure.teikyo.jp/en/publications/f23f66dd-859e-4088-8e53-de40d99cc561
  • Peer Reviewed / Open Access
• [Journal Article] Public attitudes toward an epidemiological study with genomic analysisin the Great East Japan disaster area. (2015)
  • Author(s): Ishikuro M, Nakaya N, Obara T, Sato Y, Metoki H, Kikuya M, Tsuchiya N, Nakamura T, Nagami F, Kuriyama S, Hozawa A, the ToMMo Study Group.
  • Journal Title: Prehosp Disaster Med Volume: 28 Issue: 3 Pages: 1-5
  • DOI: 10.1017/s1049023x16000182
  • Peer Reviewed / Open Access
• [Presentation] Return of genomic results in the research context-review of global situation (2018)
  • Author(s): FujiNagami andYayoi Aizawa
  • Organizer: American Society for Human Genetics
  • Int'l Joint Research
• [Presentation] データシェアリングの国外の動向と東北メディカル・メガバンク統合データベースdbTMMの取り組み (2018)
  • Author(s): 荻島創一
  • Organizer: 日本人類遺伝学会第63回大会
• [Presentation] NGSとNGS現場の会 (2017)
  • Author(s): 荻島創一
  • Organizer: NGS現場の会 第五回研究会
• [Presentation] 診療情報の利活用によるフェノタイピングとHuman Phenotype Ontology（HPO） (2017)
  • Author(s): 荻島創一
  • Organizer: 第10回 Pharma AI Forum (PHAIFO)
• [Presentation] 前向きゲノムコホート研究へのNGSの貢献 (2017)
  • Author(s): 荻島創一
  • Organizer: Kobe NGS Day
• [Presentation] 東北メディカル・メガバンク計画の進捗と統合データベースdbTMMの構築 -診療情報に基づくフェノタイピングによる追跡調査へ向けて- (2017)
  • Author(s): 荻島創一
  • Organizer: 第80回徳島大学先端酵素学研究所糖尿病臨床・研究開発センター講演会
• [Presentation] バイオバンク横断検索のプロトタイプ開発 -バイオバンクの保管試料・情報の「見える化」とワンストップでの横断検索 (2017)
  • Author(s): 荻島創一
  • Organizer: 第3回バイオバンク連絡会
• [Presentation] 個人情報保護法改正とゲノムデータの取扱い、国内外の動向 (2017)
  • Author(s): 荻島創一
  • Organizer: バイオメディカルデータサイエンティスト養成集中講座
• [Presentation] How Tohoku Medical Megabank Project treat the NGS information? (2017)
  • Author(s): Fuji Nagami
  • Organizer: NGS現場の会 第五回研究会
• [Presentation] 「遺伝の仕組み」と「多様性」を学ぶための小児を対象とした遺伝教育ツール開発の取り組み (2017)
  • Author(s): 小林朋子、長神風二ほか
  • Organizer: 日本人類遺伝学会 第62回大会
• [Presentation] Ethical Issues and Data Protection Within the Tohoku Medical Megabank Project (2015)
  • Author(s): Fuji Nagami, Hiroaki Tomita
  • Organizer: 2015 World Congress of Psychiatric Genetics
  • Place of Presentation: Toronto, Canada
  • Year and Date: 2015-10-18
  • Int'l Joint Research
• [Book] 生命科学と法の近未来 (2018)
  • Author(s): 米村 滋人、長神風二
  • Total Pages: 248
  • Publisher: 信山社出版
  • ISBN: 9784797288056