A survey on genetic information management in Japanese medical site

2020 Fiscal Year Final Research Report

• Project/Area Number: 19K24269
• 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: Tokai University
• Principal Investigator: SUZUKI Mizuho 東海大学, 医学部, 助教 (00845521)
• Project Period (FY): 2019-08-30 – 2021-03-31
• Keywords: 遺伝情報の管理 / 遺伝子例外主義 / 遺伝リテラシー / 遺伝カウンセリング / 遺伝差別 / 遺伝性疾患 / 守秘義務 / 診療情報

Outline of Final Research Achievements

Japan is currently in the midst of a rapid promotion of genomic medicine, and the use of genetic information is becoming an inseparable part of treatment. In the past, there have been reports that access to genetic information was restricted even in electronic medical records. Based on the above, we conducted a exploratory sequential designed study to investigate the actual situation and background of genetic information management in modern medicine. Through interviews with clinical geneticists at hospitals with specified functions, we examined the items that restrict access to genetic information and their backgrounds. Based on the results, we conducted a questionnaire survey of clinical training hospitals to highlight the reality of significant special management of genetic information.

Free Research Field

遺伝カウンセリング

Academic Significance and Societal Importance of the Research Achievements

医療機関の“遺伝情報取り扱いの差異”が、情報活用の側面からみた場合、将来的なゲノム医療の妨げや医療格差に繋がりかねないことが懸念されるため、診療情報上の遺伝情報の取り扱いについて、日本におけるコンセンサスを得ることが必須であると考える。本研究ではそのための議論の前提となるような実態調査データを取得した。また、実態背景の考察から、ゲノム医療の普及・発展の基盤を整える礎となるような提案を行う予定である。