Evaluation of quality and usefullness of genetics testing-clinical application of next generation sequencer.

2014 Fiscal Year Final Research Report

• Project/Area Number: 24590694
• 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(系)研究科(研究院), 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, 大学院医学研究科, 教授 (60273455) ; SEKINE Akihiro 京都大学, 大学院医学研究科, 教授 (30425631) ; TOI Masakazu 京都大学, 大学院医学研究科, 教授 (10207516)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: 遺伝子検査学

Outline of Final Research Achievements

A guideline was made for quality assurance of molecular genetic testing in　Japan. Questuinaire survey on specialist of genetics in Japan was done as for incidental finindings from next generation sequencer. More than 90% were positive for necesssity of opt-out chopice and genetic couseling.

Free Research Field

遺伝子診療学