Japan Association for Medical Informatics

[4-E-3-01] Prospects for the implementation of genomic medicine and standardization activities of ISO/TC215/SC1, HL7, and GA4GH

*Soichi Ogishima1 (1. INGEM, Tohoku University)

Genomic medicine is advancing to provide personal healthcare suitable for the constitution and medical condition based on the genomic and omics data of individuals. Polygenic risk scores are expected to provide the same predictive power for multifactorial diseases as for rare diseases in the future. In preparation for the arrival of the era of genomic medicine, it is necessary to examine the ecosystem of the cycle of medical care by medical institutions, clinical testing companies, and analysis/data centers, and research and development by academia and industry, as an implementation system for genomic medicine that returns the results of genome analysis, etc. to patients. Standardization is important to realize the implementation of genomic medicine on a nationwide scale. In this presentation, we will discuss the system and information infrastructure necessary for the realization of a nationwide implementation system for medical care and R&D, and introduce the collaborative standardization activities of xSDO by ISO/TC215/SC1, HL7 Clinical Genomics WG, and GA4GH in building the information infrastructure. In addition, we will introduce the collaborative standardization activities of xSDO by ISO/TC215/SC1, HL7 Clinical Genomics WG and GA4GH.