Clinical Genetics InstituteInformaticsGenetic Data in the Electronic Health Record

Genetic Data in the Electronic Health Record

The Intermountain Healthcare Clinical Genetics Institute and the Partners HealthCare Center for Personalized Genomic Medicine (PCPGM) announced in September of 2009, the successful transmission of a structured and coded electronic genetic test result from Partner’s Laboratory for Molecular Medicine (a CLIA certified genetic testing lab) in Boston to an Intermountain patient’s electronic health record in Salt Lake City.

First of Its Kind 

This communication of genetic data was the first of its kind, and covers the reporting of genetic test results for sequencing and genotyping based tests where identified DNA sequence variants (i.e. mutations) are located within a gene. This includes testing for variants that are associated with a disease (or risk for developing the disease) and pharmacogenomic applications, such as predicting a patient’s responsiveness to drug therapy and drug metabolism rate.

Variantwire

The data exchange was routed through a system developed by Partners called VariantWire. This central hub enables the transfer of genetic test results from testing laboratories to the healthcare providers that ordered the tests. Any institution that connects to VariantWire will be able to communicate with all other connected institutions through a single secure interface, eliminating the complexity of a many-to-many inefficient network.

Connecting other Labs

Intermountain and the national reference laboratory ARUP are already working to establish an interface with each other via VariantWire. When the connection is ready in 2010, ARUP will have the infrastructure in place to transmit the more than 3,000 genetic tests it performs for Intermountain patients each year. Provider patient genetic profiles will grow more complete as additional laboratories are connected. As these profiles expand, new forms of clinical decision support will become possible.

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