Handling of Germline Findings in Clinical Comprehensive Cancer Genomic Profiling
| Project/Area Number |
21K17854
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| Research Category |
Grant-in-Aid for Early-Career Scientists
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| Allocation Type | Multi-year Fund |
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| Review Section |
Basic Section 62010:Life, health and medical informatics-related
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| Research Institution | Okayama University |
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Principal Investigator |
Sakai Mika 岡山大学, 医学部, 客員研究員 (50786522)
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| Project Period (FY) |
2021-04-01 – 2023-03-31
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| Project Status |
Completed (Fiscal Year 2022)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2022: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Fiscal Year 2021: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
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| Keywords | がんゲノム医療 / がん遺伝子パネル検査 / Germline Findings / 遺伝性腫瘍 / 遺伝カウンセリング / バリアント情報共有システム |
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| Outline of Research at the Start |
近年がんゲノム医療が実用化され、2019年6月にはがん遺伝子パネル検査が保険収載された。がん遺伝子パネル検査では、がん治療に役立つ情報が得られることに加え、腫瘍ゲノム情報から生殖細胞系列病的バリアントが疑われるバリアント（Presumed Germline Pathogenic Variant：PGPV）を見出し、遺伝性疾患を絞り込むことができる。しかし、がん遺伝子パネル検査からの遺伝性疾患絞り込み戦略は確立していない。
本研究ではがん遺伝子パネル検査実施症例を対象とし、匿名化されたバリアントリストと臨床情報を収集し、「真に遺伝性疾患の診断に結び付いたPGPV」のデータベースを構築する。
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| Outline of Final Research Achievements |
Comprehensive genomic profiling (CGP) potentially detects pathogenic variants associated with hereditary cancer. These presumed germline pathogenic variants (PGPVs) are difficult to determine from tumor-only sequencing assays because their somatic or germline origins remain unclear. Patients found to have PGPVs during CGP require genetic counseling (GC) referrals.We established a database of PGPVs; PGPVs were detected in approximately 7% of the 1079 cases tested by the CGP. On the other hand, less than half of the PGPV-detected cases received GC. The reasons were poor general condition, death before the results were explained, and patients' lack of interest in knowing their own genetic information. These results suggest the importance of facilitating access to GC and educating patients about genetics.CGP contributes to the identification of germline variants in patients without a history of hereditary cancer. However, the proportion of patients who undergo GC should be improved.
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| Academic Significance and Societal Importance of the Research Achievements |
がん遺伝子パネル検査にはがん関連遺伝子が多く搭載され、がん診療を契機とした遺伝性疾患の診断の機会は今後急増すると考えられる。本研究は、表現型や家族歴から遺伝性腫瘍を絞り込む従来の方法では疑われない患者において「真に遺伝性疾患の診断に結び付いたPGPV」のデータ集積の一助になるとともに、医療者が安全に効率的に腫瘍ゲノム情報から遺伝性疾患を絞り込める環境づくりの手助けとなると考えられる。
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Report
(3 results)
Research Products
(2 results)
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[Journal Article] Handling of Germline Findings in Clinical Comprehensive Cancer Genomic Profiling2022
Author(s)
Mika Okazawa-Sakai, Yasuko Yamamoto, Mashu Futagawa, Miki Okamura, Satoko Miyawaki, Tomohiro Nishina, Kazuhiro Takehara, Toshiyuki Kozuki, Shuta Tomida, Ichinosuke Hyodo, Shozo Ohsumi, Akira Hirasawa
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Journal Title
Acta Medica Okayama
Volume: 76
Issue: 6
Pages: 673-678
DOI
URL
Related Report
Peer Reviewed / Open Access
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