10 Jun 2025
As demand for genetic testing to diagnose and treat hereditary cancers, rare diseases, pediatric genetic disorders, and other complex conditions grows, pressure is increasing on payers to incorporate these tests in provider contracts and member benefit packages.
During Becker's Fall 2024 Payer Issues Roundtable, Jim Almas, MD, vice president and medical director for clinical effectiveness, and Yvette Jenkins, senior vice president for managed care at Labcorp, led a discussion on the value and practicality of expanding genetic testing coverage. They were joined by Chantelle Schenning, PhD, vice president for healthcare transformation and policy at Invitae, and health plan leaders nationwide.
In August 2024, Invitae became part of Labcorp to further the future of genetic testing. With Invitae, Labcorp extends its leadership in specialty testing with the most comprehensive offerings in areas such as oncology and select rare diseases and advances its mission to improve health and improve lives.
Key themes from this executive roundtable are summarized below.
Genetic insights can improve patient outcomes and optimize resources, but obstacles persist
Clinical guidelines recommend hereditary genetic testing for patients with certain cancers to help physicians tailor treatment plans to a patient’s specific genetic profile. This approach leads to better outcomes for patients. For example, knowing BRCA1 or BRCA2 variant status in connection with a breast cancer diagnosis leads to a 16% improvement in 5-year survival rates1.
Invitae conducted a retrospective review on patients with breast cancer who received genetic testing. The study found that both positive and negative test results were beneficial to patients' health outcomes, as treatment and care management could be modified appropriately. Perhaps most importantly, the study found that genetic testing enabled optimal resource utilization.
"We demonstrate that germline-directed clinical management did not lead to under- or overuse of radiation therapy or bilateral mastectomy, thus demonstrating that universal testing enables optimization of clinical care and reduces unnecessary healthcare resource utilization," said Charles Shelton, M.D., lead author of the study and radiation oncologist at The Outer Banks Hospital in North Carolina.
Although guidelines have established the standard of care, only a small percentage of patients meeting guideline recommendations receive hereditary cancer genetic testing. There are several reasons why this may be happening. First, the rapidly evolving field of genetics makes it difficult for both providers and payers to keep up with the standard of care2. Further, the wide variety of genetic panels and analysis methods has made coding difficult and added administrative burden to health plans and providers3. And finally, patient education and access to genetic experts can add additional resource constraints.
Panelists and participants discussed several potential ways to overcome these obstacles, as outlined in the sections below.
Partnership between diagnostic testing companies and health plans
To keep up with the rapid evolution of genetics, health plans need to maintain close partnership with trusted laboratory partners with expertise in this field. Doing so will enable clearer understanding of the specific variants included in each assay, as well as the platform on which this testing is performed. This will allow a health plan to make the most informed decision for their patient population and support appropriate testing based on clinical guidelines.
Labcorp collaborates with plans to address these challenges and provide greater transparency. Labcorp streamlines this by helping to align payers’ medical policies with genetic test names and codes eligible for coverage. This eliminates ambiguity about what exactly payers are paying for and can support a quicker understanding of coverage for the test and how it relates to the patient’s care.
“Providing detailed information in medical policies, particularly regarding covered diagnosis codes, is highly beneficial," said Ms. Jenkins. “This information enables laboratories to better educate providers on the services covered by health plans and the circumstances under which they apply, ultimately reducing unnecessary testing and claim denials.”
Further, collaboration between health plans and commercial labs like Labcorp supports patient access to appropriate and high-quality testing. Genetic testing requires high standards for accuracy, reliability, and clinical interpretation. By working closely with laboratories, insurers can confirm that tests meet regulatory and clinical benchmarks, such as those established by organizations like CLIA (Clinical Laboratory Improvement Amendments) or CAP (College of American Pathologists). This collaboration fosters confidence among providers and patients that the tests used are trustworthy and capable of delivering actionable insights.
Streamlined communication around coding and clinical utility
The updated 2025 CPT code set includes key updates to genetic testing. Panelists and attendees discussed the potential impact these changes will have.
"If you look at genetic test coding as something you want to run away from, don't," Dr. Almas said. “The newly released CPT codes for these hereditary cancer panels have new definitions and new anchor (CLFS) prices. There is simplification of the code definitions. You don't need to memorize them. Just load them in your systems.”
Understanding these codes and adding transparency for teams to utilize them appropriately are important factors to provide patients with the best care possible.
AI and digital solutions to enhance the patient-provider relationship for better care
To facilitate appropriate adoption of guideline-based genetic testing, Labcorp has developed a HIPAA-compliant, AI clinical chatbot named Gia. Gia conducts virtual conversations with patients, educates them on genetic testing, gathers personal and family health history information, and helps identify patients who may benefit from hereditary cancer genetic testing based on clinical guidelines. The collaboration between clinicians and AI is crucial for success and cannot be underestimated. Combining technological prowess with clinical expertise can lead to improved patient outcomes.
To access Gia, providers share a link with patients. Patients then complete a series of questions in advance of their appointment or at time of appointment. The information is shared back with the provider to support informed ordering of the right genetic test for the right patient at the right time.
"With Gia, we make it easy to identify who qualifies for genetic testing based on clinical guidelines and support appropriate utilization. Many clinicians, NCI-designated centers, and academic institutions use Gia, as well as community-based practices short on genetic experts. This is a great way to aid care teams with additional genetic expertise and reduce administrative burden," Dr. Schenning said.
Genetic testing can improve patient outcomes and drive appropriate utilization of healthcare resources. While some are concerned about test overutilization, underutilization also remains an important topic.
For example, in rare disease, underutilization of genetic testing causes significant increase in healthcare utilization and costs. According to the EveryLife Foundation, pediatric rare diseases takes an average of 5-years to finally reach a diagnosis from a genetic test. In that time, on average patients were 4x more likely to see more than 3 specialists and have nearly 17 healthcare and hospital visits, with healthcare spending shifted away from treatment and supportive therapies to unnecessary procedures. The economic impact of delays in genetic testing can be up to $517,000 of avoidable costs per patient.
With effective collaborations between health plans, providers, and diagnostic laboratories, many of these barriers can be more manageable, especially with lab stewardship programs. Working together, these organizations have the potential to prevent diseases before they start, inform clinical care plans for affected patients, and ultimately improve outcomes without adding costs.