Topic: GeneInsight’s role in eMERGE III: enabling EMR integration

Speaker: Larry Babb, Principal Software Engineer, GeneInsight 

GeneInsight Suite offers Lab, Clinic and Network components which enable the high throughput transfer of structured clinical-grade genetic data between labs and clinicians in the form of interpretive reports and relevant variant interpretation updates. Partners Healthcare Personalized Medicine (PPM) put GeneInsight into clinical use in 2005 and continued its development in collaboration with leading geneticists, laboratory operations personnel, practicing physicians and IT professionals. Partners Healthcare commercialized GeneInsight in 2010 and then joined into a partnership with Sunquest Information Systems in 2014.

The Electronic Medical Records and Genomics (eMERGE) Network is a National Institutes of Health (NIH)-organized and funded consortium of U.S. medical research institutions, which began its third phase in September 2015. A major aim for eMERGE Phase III is to integrate genetic variants into Electronic Medical Records (EMRs) for clinical care. GeneInsight and DNAnexus are two commercial software packages that have been integrated and deployed by eMERGE to facilitate the IT requirements of returning the sequencing test results.

In this presentation, I will describe aspects of structured electronic genetic test results that we at GeneInsight believe are critical to improving personalized medicine by delivering clinically actionable genetic data to the EMR. GeneInsight’s model for data sharing may provide valuable insight into EMR integration strategies. eMERGE Phase III is a valuable opportunity to leverage existing EMR and genomic data to investigate this model further. I will focus on presenting the challenges of and solutions to computationally combining variant and phenotypic data from two genetic testing labs with distinct clinical operations for both reporting and knowledge updates for the purpose of providing a common structure for clinically responsible use in EMRs.

Presentation Slides: emerge-geneinsight-ignite-20161201-final

Webinar Recording: