| Project/Area Number |
18K07411
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Review Section |
Basic Section 52010:General internal medicine-related
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| Research Institution | Kyoto University |
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Principal Investigator |
Kosugi Shinji 京都大学, 医学研究科, 教授 (50252432)
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| Project Period (FY) |
2018-04-01 – 2021-03-31
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| Project Status |
Completed (Fiscal Year 2020)
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| 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)
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| 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.
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| 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。
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