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Beyond Connectivity: Closing the “Exome Gap” in Health System Genomic Strategy

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As health systems move toward mature precision medicine programs, the operational focus is shifting from simple connectivity to workflow sophistication. Most clinical and IT leaders recognize that integrating genomics into the Electronic Health Record (EHR) is essential for efficiency. Recent data highlights the scale of that impact: EHR-integrated genetic testing is 75% faster for ordering and 80% faster for results management compared to traditional lab portals.1

For today’s C-suite, the challenge is no longer about efficiency, it is about ensuring technology can support complex clinical cases, such as exome sequencing for rare diseases. To address this, Ambry Genetics launched their hereditary cancer, cardiology, and rare disease menus within Epic Aura through the Tempus compendium. This platform is designed to be efficient and scalable, keep results current for all viewers, address the nuance of exome workflows, and enhance the precision medicine experience.

Reducing IT Friction with System-Wide Scalability

One of the most common barriers to precision medicine is the operational lift associated with building and maintaining custom integrations. Epic Aura is designed to reduce that complexity by offering a scalable model that connects system-wide.

Since Ambry’s menu is part of the Tempus compendium within Aura, health systems can support diverse care teams to order genetic testing without launching individual IT projects for every department. This “integrated once, available everywhere” model allows the C-suite to prioritize IT resources elsewhere while still providing top-tier genomic tools to their clinicians.

Maintaining Clinical Integrity through Data Synchronicity

Variant reclassification remains a significant challenge in genetic testing. In traditional workflows, a variant’s interpretations may evolve, but the static reports in the patient chart remain outdated, thereby creating the risk of relying on old information. By publishing Ambry’s compendium on Epic Aura, providers place orders in their everyday workflow and results remain synchronized as interpretations change. This integration allows providers to trust that the results reflected in Epic always include the most current variant classification and interpretation. For clinical directors, this provides a layer of risk mitigation and quality assurance, ensuring that every member of the care team—from the genetic counselor to the primary care physician—is working from a single, accurate source of truth across the organization.

Exome Workflow Sophistication: A Critical Differentiator

While many rare disease diagnostic partners offer EHR integration, exome sequencing introduces additional complexity, particularly for “duo” or “trio” testing. Most current integrations are limited to a “proband-only” model, where results are only returned to the primary patient’s chart.

Ambry’s sophisticated workflow powered by Epic Aura allows institutions to determine how exome results are managed. Clinicians can choose to place exome orders only in the proband chart—a frequent requirement for pediatric settings—or opt for a solution where secondary findings for parents flow back into the parents’ individual charts. This flexibility is vital for systems aiming to build longitudinal precision medicine programs. It allows clinical leaders to decide how to manage long-term family follow-up and the return of secondary findings, ensuring the technology supports clinical strategy rather than dictating it.

Elevating the Patient and Provider Experience

The American College of Medical Genetics and Genomics recommends integrating genomic data within the EHR to maximize patient benefit and enable coordinated, data-driven care.2 Ambry’s integration aligns these professional standards by enabling informed clinical decision-making within existing workflows.

Furthermore, the integration extends the value of this data to the patient. By pushing results to MyChart, health systems can engage patients directly, making genetic information part of a collaborative care journey. This transparency not only improves the patient experience but also reinforces the health system’s position as a leader in cutting-edge, family-centered medicine.

Strategic Takeaway for Clinical Leaders

To move from a fragmented genetics program to a scalable precision medicine strategy, health systems must look for partners that offer more than just a connection—they must offer flexibility. Prioritizing integrations that support sophisticated workflows, such as parent-charting for exome findings, helps ensure their EHR enables clinical excellence rather than a limit to  family-centered care. Learn more here.

References

  1. Lau-Min KS, et al. Genet Med. 2022;24(7):2339–2345.
  2. Grebe TA, et al. Genet Med. 2020;22(9):1431–1436.

Epic and Aura are registered trademarks of Epic Systems Corporation

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