Medical informatics infrastructure for personalized genomic medicine

2015 Fiscal Year Final Research Report

• Project/Area Number: 25280105
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Life / Health / Medical informatics
• Research Institution: The University of Tokyo
• Principal Investigator: Satoru Miyano 東京大学, 医科学研究所, 教授 (50128104)
• Co-Investigator(Kenkyū-buntansha): TOJO Arinobu 東京大学, 医科学研究所, 教授 (00211681) ; FURUKAWA Yoichi 東京大学, 医科学研究所, 教授 (20272560)
• Co-Investigator(Renkei-kenkyūsha): YAMAGUCHI Rui 東京大学, 医科学研究所, 准教授 (90380675) ; IMOTO Seiya 東京大学, 医科学研究所, 教授 (10345027)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: メディカルインフォマティクス / 個別化ゲノム医療 / シリコン・シークエンサー / 消化器癌 / 血液腫瘍

Outline of Final Research Achievements

By utilizing the supercomputer at Human Genome Center (The University of Tokyo), we implemented a whole-genome based personalized cancer genomic medicine at the Research Hospital of the Institute of Medical Science. We employed NGS whole-genome analysis, whole-exome analysis, cancer panel, Sanger sequencing, and omics analysis including pathological data. In this process of implementation and clinical interpretation, we organized a tumor board for genomic medicine. We designed and constructed a system comprising an information infrastructure and sequencing facility of medical informatics including an application of cognitive computing technology (IBM Watson Genomic Analytics) based on biomedical big data and Clarity LIMS. In the practice of personalized cancer genomic medicine, we evaluated the usefulness of this system, and simultaneously identified challenging issues arising from whole-genome based personalized genomic medicine in addition to new discoveries in cancer research.

Free Research Field

バイオインフォマティクス