Basic research for the development of support tools for subjects of genome-wide analysis

2020 Fiscal Year Final Research Report

• Project/Area Number: 17K17462
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Lifelong developmental nursing
• Research Institution: Osaka University (2019-2020); Tohoku University (2017-2018)
• Principal Investigator: Aizawa Yayoi 大阪大学, 医学系研究科, 助教 (50772729)
• Project Period (FY): 2017-04-01 – 2021-03-31
• Keywords: 遺伝カウンセリング / 網羅的ゲノム解析 / 偶発的所見 / 二次的所見 / 結果返却

Outline of Final Research Achievements

The purpose of this study was to investigate the current situation regarding the return of the results of genome-wide analysis and to identify issues related to informed consent, as a preliminary step to developing support tools for the subjects who undergo genome-wide analysis.
We collected information in the literature and on the web, and also visited experts who are actually involved in the return of results in the U.S., and were able to gain the latest findings about the actual situation and issues. We also conducted an interview survey of certified genetic counselors in Japan, and found that they are dealing with a variety of issues while dealing with clients in various situations, such as research and clinical situations, and that they make various efforts and considerations according to the situation when actually explaining the situation before and after the test.

Free Research Field

生命倫理、ELSI

Academic Significance and Societal Importance of the Research Achievements

網羅的ゲノム解析はすでに臨床応用され、ここ数年で遺伝学的検査の種類や対象も徐々に広がっている。一方で、我が国で実際にどのようにこうした検査の説明が行われているかに関する知見は少なかった。網羅的ゲノム解析の結果返却に関する現状を調査し、対象者の説明内容に関する課題を検討したことは、受検者が必要な情報提供や心理社会的サポートの上で検査を受けるかどうかを選択し、健康に役立てていくことのつながるという点で、社会的にも有意義なことであると考える。