Examination of issues for utilizing genome analysis research information in medicine
Project/Area Number |
15K08539
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Medical sociology
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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)
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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)
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Project Period (FY) |
2015-04-01 – 2019-03-31
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Project Status |
Completed (Fiscal Year 2018)
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Budget Amount *help |
¥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)
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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.
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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。
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Report
(5 results)
Research Products
(28 results)
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[Journal Article] Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2,049 individuals2018
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.
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Journal Title
Journal of Human Genetics.
Volume: 63
Issue: 2
Pages: 213-230
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Security controls in an integrated Biobank to protect privacy in data sharing: rationale and study design2017
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
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Journal Title
BMC Med Inform Decis Mak
Volume: 17
Issue: 1
Pages: 100-100
DOI
Related Report
Peer Reviewed / Open Access
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[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.
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Journal Title
Nature Genetics
Volume: -
Issue: 6
Pages: 953-958
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[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.
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Journal Title
Nucleic Acids Res
Volume: 45(D1)
Issue: D1
Pages: D865-D876
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Monitoring of minimal residual disease in early T-cell precursor acute lymphoblastic leukaemia by next-generation sequencing2016
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
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Journal Title
Br J Haematol
Volume: in press
Issue: 2
Pages: 318-321
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[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.
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Journal Title
Sci Rep
Volume: 6
Issue: 1
Pages: 31463-31463
DOI
Related Report
Peer Reviewed / Open Access
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[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.
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Journal Title
Prehosp Disaster Med
Volume: 28
Issue: 3
Pages: 1-5
DOI
Related Report
Peer Reviewed / Open Access
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