In order to realize gene-based medicine, a number of key challenges must be overcome. Construction of infrastructure capable of integrating genetic and clinical information is one of those challenges. The Genomic Sequence Variation Markup Language (GSVML) and the Health Level Seven Version 3 (HL7v3) are important electronic data exchange standards for clinical genome infrastructure, and compatibility between these two standards will promote the above integration. In this study, we analyzed the interface between GSVML and HL7v3, primarily for the Clinical Genomics Domain, from a view of the GSVML, and were able to create a blueprint for a functional interface between GSVML and HL7v3. We expect that these analytical results will help accelerate the realization of gene-based medicine.
- Clinical genome infrastructure
- Gene based medicine
- Genomic Sequence Variation Markup Language
- Health Level Seven