Advances in FHIR Standards for Clinical Genomics and Precision Medicine

Presentation Time: 01:45 PM - 02:00 PM

Abstract Keywords: Data Standards, Knowledge Representation and Information Modeling, Interoperability and Health Information Exchange, Omics (genomics, metabolomics, proteomics, transcriptomics, etc.) and Integrative Analyses
Primary Track: Foundations
Programmatic Theme: Clinical Research Informatics

Structured and interoperable genetic data are a cornerstone of personalized medicine, where data can flow seamlessly between various information systems and medical settings. HL7 Clinical Genomics Information Modeling Subgroup is working to model genetic concepts in alignment with other workgroups. This work presents the developed FHIR Molecular Definition Resource and its four profiles: Sequence, Allele, Haplotype, and Genotype. These advances will boost genetic data exchange for clinical, research, and knowledge representation purposes.

Speaker(s):
Robert Freimuth, PhD
Mayo Clinic

Author(s):
Aly Khalifa, PhD - Mayo Clinic; Xianfeng Chen, Ph.D; Robert Freimuth, PhD - Mayo Clinic;