Investigation of psychosocial support for predictive genetic testing in inherited neuromuscular diseases.

2022 Fiscal Year Final Research Report

• Project/Area Number: 20K23227
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Multi-year Fund
• Review Section: 0908:Society medicine, nursing, and related fields
• Research Institution: Kyushu University
• Principal Investigator: KIMURA Midori 九州大学, 大学病院, 学術研究員 (40883989)
• Project Period (FY): 2020-09-11 – 2023-03-31
• Keywords: 発症前診断 / 遺伝カウンセリング / 心理社会的支援 / 遺伝性神経筋疾患

Outline of Final Research Achievements

A questionnaire survey was conducted among genetic medicine departments and parties (hereditary spinocerebellar degeneration and myotonic dystrophy type 1) nationwide. In the genetic practice departments, about 55% (37 facilities) had predictive genetic testing for hereditary diseases for which no treatment or prevention methods were available, and an additional 27% (18 facilities) had written procedures in place. About 16% (10 persons) of the parties involved had had experience with predictive genetic testing, while the remaining 84% (53 persons) had not. The results suggest the need for guidelines for predictive genetic testing for hereditary neuromuscular diseases without treatment in Japan, the importance of parties being aware of the availability of predictive genetic testing, and the importance of support to inform blood relatives of "hereditary" conditions.

Free Research Field

遺伝カウンセリング

Academic Significance and Societal Importance of the Research Achievements

本邦には治療法・予防法のない遺伝性神経筋疾患における発症前診断のガイドラインは未だない。本研究では、当事者から意見や経験を得ることで、このガイドラインの必要性を示唆することにつながった。また、当事者の中にも「発症前診断」の存在を知らなかった者（36名中8名）や、そもそも「遺伝性」疾患だと知らなかった当事者（36名中6名）もいたため、遺伝医療の専門家が当事者や一般市民に対する情報周知の必要性や、血縁者への「遺伝性」についての共有を支援するための体制整備や研究等の必要性の示唆につながったと考えられる。