A Utah man's genetic test results for an inherited heart condition were sent from a Boston lab to Intermountain Healthcare, where it was incorporated into his medical records -- the first time this kind of data exchange has taken place between two health systems.
Considered a major advance in electronic medical records, this packaging and shipment of data will support the use of genetic information to transform medical care, said Sandy Aronson, executive director of information technology at the Partners HealthCare Center for Personalized Genetic Medicine in Boston.
"We see this as the first step in building critical infrastructure that will be required in order for personal medicine to meet its potential," he said at a Wednesday news conference in Salt Lake City.
In the past, complete genetic records were not provided to doctors because they contain too much data on paper, making them far from user friendly.
"We believe without adequate [technical] support, that will become an intractable problem as the amount of genetic testing increases over time," he said.
Orders for genetic tests -- and the lab results -- can now be sent via VariantWire, a centralized routing engine that codes the information so it can be readily accessed and interpreted by computers.
This makes it easier to incorporate the data into patients' electronic medical records. And that will allow clinicians take advantage of a wealth of information that could be used to help diagnose or identify increased risk for disease, and help tailor treatments and drug regimens.
Exchanging information through VariantWire could be useful in a number of clinical scenarios, said Marc Williams, director of the Intermountain Clinical Genetics Institute at LDS Hospital.
In order for a genetics lab to accurately interpret the results from a cystic fibrosis test, for instance, it would be important for technicians to know whether the patient is white or Latino. Genetic mutations can vary by ethnic group, Williams explained. That kind of information could be included in an order for a genetic test.
Another example: Genetic mutations are frequently spotted, Williams said, but often times clinicians are unable to understand their significance. If a lab made a breakthrough years after the test is performed, it could transmit data to the patient's electronic medical record, alerting his or her doctor to what it means.
Storing data this way, he added, will also help health systems avoid expensive duplicative testing.
Stan Huff, chief medical informatics officer for Intermountain Healthcare, said VariantWire is the first implementation of a national standard for the exchange of genetic data.
Eventually, he said, the goal is to grow the number of laboratories and health systems participating and communicating with one another through the secure connection.