Handling of Germline Findings in Clinical Comprehensive Cancer Genomic Profiling

2022 Fiscal Year Final Research Report

• Project/Area Number: 21K17854
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 62010:Life, health and medical informatics-related
• Research Institution: Okayama University
• Principal Investigator: Sakai Mika 岡山大学, 医学部, 客員研究員 (50786522)
• Project Period (FY): 2021-04-01 – 2023-03-31
• 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

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.

Free Research Field

遺伝性腫瘍

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。