Research on genetic counseling systems for genomic medicine
| Project/Area Number |
17K08942
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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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| Research Field |
Medical sociology
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| Research Institution | Tokyo Metropolitan Institute of Medical Science |
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Principal Investigator |
Horiuchi Yasue 公益財団法人東京都医学総合研究所, 精神行動医学研究分野, 主席研究員 (00548985)
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| Co-Investigator(Kenkyū-buntansha) |
浄住 佳美 静岡県立静岡がんセンター(研究所), ゲノム医療推進部, 研究員 (90794537)
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| Project Period (FY) |
2017-04-01 – 2020-03-31
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| Project Status |
Completed (Fiscal Year 2019)
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| Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2019: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2018: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2017: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Keywords | 遺伝カウンセリング / ゲノム医療 / 二次的所見 / 偶発的所見 / 全ゲノムシークエンス / エクソーム / 精密医療 / Precision Medicine / precision medicine / エクソームシークエンス / クリニカルシークエンス / 次世代シークエンス / バイオエシックス |
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| Outline of Final Research Achievements |
High-throughput sequencing has greatly contributed to precision medicine. However, challenges remain in reporting secondary findings (SFs) of germline pathogenic variants and managing the affected patients. The aim of this study was to examine the incidence of SFs in Japanese cancer patients using whole exome sequencing (WES) and to understand patient preferences regarding SF disclosure. WES was conducted for 2480 cancer patients. Genomic data were screened and classified for variants of 59 genes listed by the American College of Medical Genetics and Genomics SF v2.0 and for an additional 13 hereditary cancer-related genes. Majority of the participants (68.9%; 1709/2480) opted for disclosure of their SFs.This was a first attempt at a large-scale systematic exome analysis in Japan; nevertheless, many cancer patients opted for disclosure of SFs and accepted or considered clinical management.
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| Academic Significance and Societal Importance of the Research Achievements |
本研究により、治療・予防に役立つ遺伝情報については患者の半数以上が自身・血縁者の健康のために遺伝情報を役立てたいと考えていることが明らかになった。また、ゲノム情報の開示のためには担当医や遺伝外来スタッフだけでなく、院内のすべての医療スタッフが遺伝情報の意味を理解して取扱い、連携して取り組むことが重要であることが再確認された。ゲノム医療が進むためには、今後さらに遺伝教育の充実、人材育成が求められる本邦における今後のゲノム医療の実践で想定されるIF対処する上での重要な知見となる。
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Report
(4 results)
Research Products
(7 results)
