Examination of validity, usefulness, ethical and social issues of human gene tests for implementation of genomic medicinel
Project/Area Number |
18K07411
|
Research Category |
Grant-in-Aid for Scientific Research (C)
|
Allocation Type | Multi-year Fund |
Section | 一般 |
Review Section |
Basic Section 52010:General internal medicine-related
|
Research Institution | Kyoto University |
Principal Investigator |
Kosugi Shinji 京都大学, 医学研究科, 教授 (50252432)
|
Project Period (FY) |
2018-04-01 – 2021-03-31
|
Project Status |
Completed (Fiscal Year 2020)
|
Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2020: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2019: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2018: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
|
Keywords | 遺伝学的検査 / がん遺伝子パネル検査 / 次世代シークエンサー / 二次的所見 / 全エクソーム解析 / 精度管理 / ACCE / 医療法改正 / 次世代シーケンサ / ELSI / 臨床的有用性 / 分析的妥当性・有用性 |
Outline of Final Research Achievements |
Analytical validity, clinical validity, and clinical usefulness of human gene tests, including analysis by next-generation sequencers, to establish human gene tests as important clinical tests for the implementation of genomic medicine. Regarding ethical and social issues, we continued to conduct a comprehensive study on the following four areas. (1) Genetic testing for hereditary diseases (rare intractable diseases, etc.). (2) Genetic tests such as common diseases. (3) Panel tests that examine a large number of genes at once using a next-generation sequencer (NGS), whole exosome analysis, whole genome analysis, etc. (4) Oncogene panel test that examines gene changes in cancer cells and is useful for accurate diagnosis and treatment of cancer.
|
Academic Significance and Societal Importance of the Research Achievements |
ゲノム医療の実装のために重要な臨床検査としてのヒト遺伝子関連検査を確立することが重要である。そのために、次世代シーケンサーによる解析を含むヒト遺伝子関連検査の分析的妥当性、臨床的妥当性、臨床的有用性、倫理社会的問題について、総合的検討を継続して実施した。
|
Report
(4 results)
Research Products
(64 results)
-
-
-
[Journal Article] Myopia Prevalence and Ocular Biometry Features in a General Japanese Population: The Nagahama Study.2021
Author(s)
Nakao SY, Miyake M, Hosoda Y, Nakano E, Mori Y, Takahashi A, Ooto S, Tamura H, Tabara Y, Yamashiro K, Matsuda F, Tsujikawa A; of the Nagahama Study Group.
-
Journal Title
Ophthalmology
Volume: 128
Issue: 4
Pages: 522-531
DOI
Related Report
Peer Reviewed / Open Access
-
[Journal Article] Descriptive epidemiology of high frequency component based on heart rate variability from 10-second ECG data and daily physical activity among community adult residents: the Nagahama Study2020
Author(s)
Takahashi N, Takahashi Y, Tabara Y, Kawaguchi T, Kuriyama A, Ueshima K, Kosugi S, Sekine A, Yamada R, Matsuda F, Nakayama T; Nagahama Study Group.
-
Journal Title
BioScience Trends
Volume: 14
Issue: 4
Pages: 241-247
DOI
NAID
ISSN
1881-7815, 1881-7823
Year and Date
2020-08-31
Related Report
Peer Reviewed / Open Access
-
-
-
-
-
-
[Journal Article] Association of Education and Depressive Symptoms with Tooth Loss2020
Author(s)
Fukuhara S.、Asai K.、Kakeno A.、Umebachi C.、Yamanaka S.、Watanabe T.、Yamazaki T.、Nakao K.、Setoh K.、Kawaguchi T.、Morita S.、Nakayama T.、Matsuda F.、Bessho K.、Tabara Yasuharu、Kawaguchi Takahisa、Setoh Kazuya、Takahashi Yoshimitsu、Kosugi Shinji、Nakayama Takeo、Matsuda Fumihiko
-
Journal Title
Journal of Dental Research
Volume: 100
Issue: 4
Pages: 361-368
DOI
Related Report
Peer Reviewed / Open Access
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
[Journal Article] CCDC102B confers risk of low vision and blindness in high myopia2018
Author(s)
Hosoda Yoshikatsu、Nagahama Study group、Yoshikawa Munemitsu、Miyake Masahiro、Tabara Yasuharu、Shimada Noriaki、Zhao Wanting、Oishi Akio、Nakanishi Hideo、Hata Masayuki、Akagi Tadamichi、Ooto Sotaro、Nagaoka Natsuko、Fang Yuxin、Ohno-Matsui Kyoko、Cheng Ching-Yu、Saw Seang Mei、Yamada Ryo、Matsuda Fumihiko、
-
Journal Title
Nature Communications
Volume: 9
Issue: 1
Pages: 1782-1782
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
-
-
[Journal Article] Nocturia and increase in nocturnal blood pressure2018
Author(s)
Matsumoto Takeshi、Tabara Yasuharu、Murase Kimihiko、Setoh Kazuya、Kawaguchi Takahisa、Nagashima Shunsuke、Kosugi Shinji、Nakayama Takeo、Wakamura Tomoko、Hirai Toyohiro、Matsuda Fumihiko、Chin Kazuo
-
Journal Title
Journal of Hypertension
Volume: 36
Issue: 11
Pages: 2185-2192
DOI
Related Report
Peer Reviewed / Open Access
-
-
-
-
-
-
-
-
-
-
-
[Presentation] がんゲノム医療に対する一般市民のリテラシー向上を目的としたまんが教材開発2019
Author(s)
十川麗美, 和田敬仁, 金井雅史, 近藤知大, 本田明夏, 永田美保, 馬場遥香, 山田崇弘, 平沢晃, 武藤学, 小杉眞司
Organizer
臨床遺伝2019inSappro(第26回日本遺伝子診療学会大会・第43回日本遺伝カウンセリング学会学術集会合同学術集会)
Related Report
-
[Presentation] 一般地域住民で検出された低ホスファターゼ症原因遺伝子のバリアントと骨形質との関連:ながはまスタディ2019
Author(s)
永田美保, 山田崇弘, 和田敬仁, 川崎秀徳, 澤井秀明, 瀬藤和也, 川口喬久, 日笠幸一郎, 田原康玄, 松田文彦, 中山健夫, 小杉眞司
Organizer
臨床遺伝2019inSappro(第26回日本遺伝子診療学会大会・第43回日本遺伝カウンセリング学会学術集会合同学術集会)
Related Report
-
[Presentation] クライエントの背景に関わらずコミュニケーションが満足につながった-当院の出生前遺伝カウンセリングより-2019
Author(s)
佐藤智佳, 吉田晶子, 玉置知子, 稲葉慧, 笠松敦, 吉田彩, 黒田優美, 矢内洋次, 村上裕美, 鳥嶋雅子, 山田崇弘, 小杉眞司, 岡田英孝
Organizer
臨床遺伝2019inSappro(第26回日本遺伝子診療学会大会・第43回日本遺伝カウンセリング学会学術集会合同学術集会)
Related Report
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
[Presentation] (ポスター)遺伝性乳がん卵巣がん症候群に対するリスク低減卵巣卵管切除の後方視的検討2019
Author(s)
山口健, 本田明夏, 山村幸, 堀江昭文, 山田崇弘, 北村幸子, 千草義継, 堀川直城, 濱西潤三, 小杉眞司, 万代昌紀
Organizer
第64回日本人類遺伝学会
Related Report
-