Japan Association for Medical Informatics

[4-E-3] Trends in the standardization of clinical sequencing data

*Soichi Ogishima1, Takeshi Imai2, Bron Kisler3, Robert Freimuth4, Lindsay Smith5 (1. INGEM, Tohoku University, 2. Graduate School of Medicine, The University of Tokyo, 3. ISO/TC215/SC1, 4. Mayo Clinic, 5. GA4GH)

Clinical Sequence, Standardization, ISO, HL7, GA4GH

Genome medicine is advancing to provide personal healthcare suitable for a person's constitution and medical condition based on various genome and omics data. In Japan, the "Action Plan for Whole Genome Analysis" has been implemented to promote genome medicine. In this fiscal year, 10,000 cases of cancer and 800 cases of intractable diseases are being sequenced, and the establishment of a system to return the results of genome analysis to patients is being promoted. Furthermore, as a future vision of the implementation system for whole genome analysis, an ecosystem implementation system is being considered that consists of a cycle of genome medicine by medical institutions, clinical laboratories, and data centers, and research and development by academia and industry. Standardization is key for the realization of a nationwide genomic medicine implementation system, and standardization is underway in HL7 Clinical Genomics WG, ISO/TC215/SC1, and GA4GH (Global Alliance for Genomics & Health). At the last JCMI conference, we introduced the status of standardization by the newly established ISO/TC215/SC1 and the status of genomic medicine in Japan by the members of the ISO/TC215/SC1 JISC. This time, we would like to invite those who are involved in this conference to introduce the latest status of standards being developed by HL7 Clinical Genomics WG and GA4GH, in addition to the latest status of standards being developed by ISO/TC215/SC1, and discuss how to tackle this issue.