Standardizing Clinical Genetic Data

Genomic data cannot be used to improve health if it cannot be accurately communicated and correctly understood by both humans and computer systems. Standards for data representation and exchange are necessary to bridge this gap and enable genomic clinical decision support; however, existing standards are incomplete and not universally adopted. These limitations form a barrier to the efficient exchange and use of genomic information by clinicians, researchers, and electronic systems including clinical decision support services. This area of research aims to address these limitations by improving existing standards for the representation of clinical genetic data. Collaborative partners include the Pharmacogenomics Research Network (PGRN), Clinical Pharmacogenetics Implementation Consortium (CPIC), Health Level Seven International (HL7) and the Clinical Genome Resource (ClinGen).