Integrating Genetics into the Clinical Workflow

As mentioned in an earlier blog post, the Genetic Health Information Network Summit convenes leading from voices across healthcare to share practical challenges and actionable solutions to enable precision medicine. An issue frequently discussed in past Summits (summarized here) is the difficulty of integrating genetics into the clinical workflow.

A dizzying array of genetic tests in the market creates challenges on many fronts. There are too many tests for clinicians—many with limited training in genetics—to navigate. The untrained eye could never hope to pick the right test at the right time. In addition, these tests lead to voluminous amounts of genetic data landing in healthcare systems unprepared to handle this information. As the volume of genetic tests flowing through a healthcare system rises, so does avoidable cost and unnecessary complexity. The result? Genetics, increasingly relevant across medical specialties, remains “exceptionalized” and isolated from the clinical workflow. This limits the potential of genomic medicine.

With the goal of deeply understanding this problem and identifying practical solutions, Concert worked with fellow Summit organizers to host a webinar featuring leading experts. Summarized here are key observations from the event and updates about cross-stakeholder solutions emerging from events like it.

Integrating genetics into the clinical workflow is a persistent problem, only deepening as testing technologies and collective understanding of disease have evolved. Key observations from the webinar include:

• The current healthcare information systems are simply not equipped for genetics. The systems of the past aren’t good enough. They are not scalable to current genetic data volumes. Current systems do not allow discrete storage or sharing of evolving genetic data over a person’s lifetime, flagged when needed at the point of care.

• Solutions to integrate genetics need to address limitations in understanding, logistical support, and reimbursement for genetic testing. Solutions cannot be built in isolation and are multi-pronged. They require collaboration from all partners, such as information technology developers, hospitals, and payers.

• Stakeholders still need help to understand genetics and its dynamic nature. Most healthcare system stakeholders have limited training in genetics, and thus a limited understanding of it. Clinicians cannot be expected to utilize genetic testing in the clinical workflow if they do not recognize the value of genetics, why genetic data changes over time, and why accepting some level of uncertainty (e.g., when a variant of unknown significance returns on a test result) ) is necessary to bring change. Educational tools focusing on these concepts are still needed.

• A technology infrastructure to support genetic data requires flexibility. Current rigid healthcare systems do not suit the evolving nature of genetic data. One-size-fits-all doesn’t work for precision medicine. An infrastructure must allow for data to be managed and enriched over time, with interoperability and mutually understood sharing standards. Clinicians, laboratories, hospitals, and payers, need to trust that the system they use will appropriately store and shepherd genetic data over time.

• Genetic testing needs to be normalized and not treated as “exceptional.” As more genetic underpinnings of disease are understood, genetic tests are becoming relevant across medical specialties. Genetic tests can no longer be kept under lock-and-key, a practice in some healthcare systems that has historical rationale. All this does is force inefficient workarounds on those who need to access and get results from these tests.

• It’s not all bad news. Some areas of genetics are being integrated into the clinical workflow. In some (mostly isolated) cases, the test ordering, resulting, and even interpretation support are built directly into the clinician’s workflow. This is generally happening in specialized clinical settings, such as certain oncology practices or in advanced academic settings. While these may not be scalable solutions, they do represent examples from which to learn.

• It may take a federated approach to solve this problem, including patients and families. Genetic data must be shared between countries to further genomic medicine for all. Doing this requires mutual standards for data sharing, interoperability, and engagement from patients and families, many of whom are more than willing to help. There is a case for strategic investment at multiple levels—healthcare system, payer, country.

A complete recording of the webinar can be found here.

These are complex challenges that no one organization can solve alone. The intent of Summit events is to inform solutions that foster cross-stakeholder collaboration. One such solution, the Concert Platform, may be of interest in the context of this conversation.

Healthcare system stakeholders need a solution to appropriately engage with genetic testing and, by doing so, further genomic medicine. The Concert Platform is a cloud-based software application that integrates test selection, results retrieval, and the insurance workflow. Leading health systems use the platform to manage genetic test orders and results, generally with favorable review (the platform has historically received a Net Promoter Score of +60).

The Concert Platform reduces the complexity of test ordering and simplifies the insurance workflow. It addresses many challenges, shown below:

• Streamline and digitize genetic test ordering and results retrieval

• Reduce the cost of testing

• Simplify insurance and prior authorization workflow

• Ensure the test catalog is accurate and updated

• Interface with many systems through a single hub

• Position the lab at the point of care

• Greater confidence in the appropriateness of testing

• Fewer duplicate tests due to better integration and storage or results

No solution is perfect for all scenarios, and more work remains to implement and integrate market-wide solutions. But the hope of the Concert team, in both helping organize the Summit and developing solutions like the Concert Platform, is that the rate at which high-quality and high-value precision medicine is delivered through the U.S. healthcare system will continue to accelerate.

Integrating genetics into the clinical workflow is a complex and evolving issue. Solutions require a multi-pronged lens and approach, with collaborations across groups to build mutual understanding, priorities, and action. Healthcare systems and their users weren’t designed for the vast, dynamic nature of genetic data to fit into them. Only when these can be systematically organized, connected, and integrated into existing systems can valuable insights be gained to bring transparency and improve patient outcomes through genomic medicine.

• Recording of the webinar, “Integrating Genetics into the Clinical Workflow”

• Whitepapers summarizing previous Genetic Health Information Network Summits

• Concert Platform: Access the free genetic test search features and learn more about the software’s capabilities

• Genetic test availability and spending: Where are we now? Where are we going? Health Affairs, Phillips KA, et al. 2018