Development of a Genetic Counseling Model for Pre-Symptomatic Diagnosis of Hereditary Cancer in Minors

2024 Fiscal Year Final Research Report

• Project/Area Number: 20K19173
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 58070:Lifelong developmental nursing-related
• Research Institution: Kyushu University
• Principal Investigator: Matsuzaki Sawako (鹿田佐和子) 九州大学, 大学病院, 学術研究員 (00853053)
• Project Period (FY): 2020-04-01 – 2025-03-31
• Keywords: 遺伝カウンセリング / 発症前診断 / 未成年 / 遺伝性腫瘍症候群

Outline of Final Research Achievements

This study investigated the current state and challenges of pre-symptomatic genetic testing for hereditary cancer in minor relatives in Japan. A survey was conducted targeting 142 medical institutions, with valid responses obtained from 74. Of these, 29 institutions had provided genetic counseling to minors. The findings highlighted challenges related to informed assent-such as addressing parents' attitudes and children's understanding-as well as issues with healthcare systems and interdepartmental coordination. In institutions not conducting such testing, the lack of specialized personnel and inadequate support systems were also identified. These results provide important insights for future policy and support system development.

Free Research Field

遺伝カウンセリング

Academic Significance and Societal Importance of the Research Achievements

本研究は、未成年血縁者への発症前遺伝学的検査に関する国内の実施状況と課題を明らかにした。全国142医療機関への調査から、遺伝カウンセリング時の親の不安や子どもの理解力への配慮、インフォームド・アセントの困難、診療科間の連携不足、専門職や支援体制の不在など多岐にわたる問題が明らかとなった。本研究の成果は、遺伝医療の質の向上や、制度整備・支援体制構築に貢献する重要な知見であり、社会的意義は大きい。