Study on quality, usefulness and ELSI of genetic testing including NGS analysis.

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K08646
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Laboratory medicine
• Research Institution: Kyoto University
• Principal Investigator: KOSUGI SHINJI 京都大学, 医学研究科, 教授 (50252432)
• Co-Investigator(Renkei-kenkyūsha): KOSAKI Kenjiro 慶應義塾大学, 医学部, 教授 (30234743) ; SAKURAI Akihiro 札幌医科大学, 医学部, 教授 (70262706) ; SAKAI Yoshiharu 京都大学, 医学研究科, 教授 (60273455) ; SEKINE Akihiro 千葉大学, 医学系研究院, 教授 (30425631) ; TOI Masazazu 京都大学, 医学研究科, 教授 (10207516)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 遺伝子検査学

Outline of Final Research Achievements

About 200 cases with cancer clinical sequence were experienced. Data and experiences were accumulated when secondary findings recommended to disclose by ACMG(American College of Medical Genetics and Genomics) were identified. Domestic and world-wide conditions of DTC(Direct-to-Consumer) genetic testing were investigated. Clinical validity and utility of genetic testings of classical monogenic hereditary diseases such as Lynch syndrome, Familial adenomatous polyposis, Multiple Endocrine Neoplasia type 1 and 2, and Hereditary Breast Ovarian Cancer, were examined precisely, and data of these were accumulated.

Free Research Field

遺伝子診療