Valley Children’s has been using Epic, a leading electronic health record (EHR) platform, for about five years. With the recent addition of the genomics module, we’ve taken a major leap forward in integrating genetic testing into clinical workflows.

This new genomics module transforms how genetic testing results are used for diagnosis and treatment. This new functionality will soon expand even further with the pharmacogenomics module, which will guide medication choices based on a patient’s genetic profile, ensuring safer and more personalized treatments.

“The advancements we’ve made with the genomics module have completely transformed how genetic information is accessed and utilized within the Electronic Medical Record. What used to be buried in the system is now easily accessible, empowering providers with the right information at the right time to make life-saving decisions.”

Jason Carmichael, MS, LCGC and manager of Genetic Counseling and Precision Medicine at Valley Children’s

Digital Approach Improves Patient Care

In the past, genetic testing results were hard to locate in Epic. They were stored in the Media tab – a cluttered space that Jason referred to as the “junk drawer,” and could be easily overlooked. Genetic testing is costly, ranging from $1,000 to $5,000, making it crucial to prevent redundant testing. Not only that, but slow manual processes were also driving up costs and impacting efficiency across the organization.

The goal of the integration was to digitize genetic results and make them easily accessible to reduce waste, save costs and improve patient care.

“Within the first week of the launch of the genomic module, I had two genetic patients present to the ED and was automatically alerted of their complex diagnosis upon accessing their file,” said Valley Children’s Emergency Medicine Physician Dr. Matthew Bayer, adding that both had patient-specific emergency care plans attached to the alert. “These plans were readily accessed, streamlining the process of providing rapid and appropriate care, and allowing us to properly treat the patient without having to run additional testing. I believe the genomic module will lead to a significant reduction in patients’ ED visit times, avoiding clinical complications and reducing hospitalization.”

“Genetic testing used to involve paper orders, faxed results and scanned documents,” Jason said. “With the new interface in place, we have not only digitized the entire workflow, we’ve added clinical decision support for certain critical conditions.”

The genomics module in Epic provides clinical decision support based on a patient’s genotype. When a genetic test result comes back, it triggers a genomic indicator in the chart, which flags specific conditions and links providers to educational resources. There’s also a patient-facing component through MyChart, giving patients reliable information about their condition.

Saving Lives with Best Practice Advisories

One of the most impactful features is the Best Practice Advisory (BPA) system. For patients with conditions like methylmalonic acidemia, BPAs deliver real-time, life-saving instructions to emergency medicine providers.

Instead of the patients carrying emergency letters explaining what to do in a crisis – which are frequently forgotten at home during actual emergencies – an alert pops up in Epic as soon as the patient arrives at Valley Children’s Emergency Department (ED), reducing delays in critical care, as well as risk.

“Our ED doctors have expressed on multiple occasions that BPAs have saved lives, and eliminating the need for phone calls and manual searches significantly reduces response times, especially during late-night or weekend emergencies.”

Jason Carmichael, MS, LCGC and manager of Genetic Counseling and Precision Medicine at Valley Children’s

Some of the BPAs focus on metabolic disorders that require frequent follow-up, while others target general genetic conditions with less frequent monitoring. Currently, 15 metabolic conditions are covered by BPAs, and Jason’s team is adding 10-20 on a quarterly basis.

Pharmacogenomics

Pharmacogenomics is the process of using genetic data to guide medication choices and dosages. “A patient’s genotype can reveal that a drug could be toxic or ineffective for them and having this knowledge on-hand enables clinicians to adjust the prescription accordingly,” Jason said.

For example, a recent case involved a woman with a variant in the RYR1 gene, which is associated with malignant hyperthermia, a life-threatening reaction to certain anesthesia drugs. Armed with this genetic information, her care team was able to consult with an anesthesiologist to ensure she avoids any high-risk medications, potentially saving her life.

With the pharmacogenomics component of the genome module, the system would automatically alert providers about medication risks based on the patient’s genotype, eliminating reliance on manual communication and ensuring safer, more personalized care.

Driving the Future of Precision Medicine

The integration with Epic and the genomic module have already transformed patient care, making genetic data easier to find and act upon – and its success has attracted attention nationally. As Valley Children’s moves into the next phase – pharmacogenomics – the project will become a model for how technology can improve outcomes, reduce healthcare costs and ensure the future of personalized medicine is even brighter.