An EHR wish list for putting genetic data to work


As genetic testing becomes more common, clinicians are trying to determine how best to use the information at the point of care.

"Repeated genetic test results generated over many months or years are impossible to synthesize into a coherent representation of the patient’s condition without using a discrete, comprehensive or end-to-end technology workflow to support care," says Penn Medicine’s Brian Wells in an article at Healthcare IT News.

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Wells, associate vice president of health technology and academic computing at Penn Medicine, calls for specific features in EHR design to help ensure genetic testing results are useful.

Among them:

  • Storing discrete genetic markers in EHR. Because community physicians typically have less knowledge about genetic data, clinically actionable variants must be separated from those of unknown significance and stored that way in the EHR. The tests must be stored chronologically and stored with other test results to be most useful.
  • Actionable rule-based alerts. Once stored that way, they can inform clinical decision rules to guide testing and treatment. Patient specific rules can be created to guide drug ordering to help ensure the most effective treatment.
  • Ongoing monitoring of patients for new actionable variants. As genetic knowledge evolves, the EHR needs to provide the ability to look back to find patients who might be eligible for new tests and treatments.

In a recent paper, researchers from the Mayo Clinic cited an increasing number of “fumbles” related to genetic screening due to use of out-of-date databases.

They argued that the healthcare industry must become "wiser users of genetic testing and even wiser interpreters of the genetic test results.”  

"The medical community and community at large need to get a better grasp on genetic testing and precision medicine rather than just using them as buzzwords," said Michael Ackerman, a genetic cardiologist at Mayo. "When used properly, these tests are incredibly helpful. But we must become wiser users of genetic testing and even wiser interpreters of the genetic test results so that we can make wise conclusions."

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