Japan Association for Medical Informatics

[4-E-3-04] Standarization activities of HL7 Clinical Genomics WG

*Robert Freimuth1 (1. Mayo Clinic)

The Clinical Genomics Work Group supports the HL7 mission to create and promote its standards by enabling the semantically meaningful exchange of data between parties interested in clinical, personal, and population genomic information and family health history, which are required to support personalized / precision medicine. The focus of the clinical genomics domain is the identification of an individual’s genomic data and family health history, to better understand the underlying genetic factors contributing to disease and health, and the linking to relevant clinical information including both data and knowledge. The long term vision of the Clinical Genomics Work Group includes within its scope “omics” technologies and data types related to genomics, including genetics, epigenetics, proteomics, etc. This work group will facilitate the development of common standards for clinical and translational information management across a variety of organizations, including (but not limited to): 1) academic medical centers, 2) hospitals and in-hospital testing labs, 3) independent testing laboratories, and 4) public data repositories and knowledge-bases serving as references to clinical genetics/genomics. These standards may be useful for clinical trials and research as well, especially when integrating with complementary clinical data.