[Clinical Biobank: A Novel System to Support Cancer Clinical Sequencing in Japan].

Abstract

The development of genomic medicine has enabled us to perform contemporary clinical sequencing, while the acquisition of high-quality biospecimens and the appropriate handling of these materials are indispensable. We started Clinical Biobank, a novel system for on-demand-type banking, in 2014. During the 22 months from August 2014, we stored around 6,000 biospecimens from 1,700 patients, and most of them were obtained for diverse clinical research. The quality and amount of extracted DNA and RNA from PFPE samples were markedly high; thus, these samples are adequate for targeted amplicon sequencing using MiSeq (Illumina). In addition, we recently established the Division of Clinical Cancer Genetics for personalized cancer medicine. We obtain biospecimens including blood and tissue fixed using the PAXgene Tissue system, and the samples are immediately analyzed for targeted amplicon sequencing using MiSeq. The rest of the samples are stored after adequate procedures in a -80 degree freezer. We obtain DNA and RNA from PAX-fixed paraffin- embedded samples with a high quality and sufficient amounts for clinical sequencing after pathological evalua- tion. For three months, we examined 40 cancer patients and performed targeted exome sequencing. As a result, detection rates of actionable and druggable gene mutations were around 85 and 50%, respectively. We have also established the Clinical Biobank Study Group in Japan, collaborating with several universities and cancer centers. We believe that this novel biospecimen repository system will help to effectively estab- lish cancer clinical sequencing throughout Japan.