Applying Advancements in Clinical Genomics to Reduce Costs

An Interview with Robert Bruce, vice president of reimbursement at Clinical Genomics. 

How was Clinical Genomics’ Colvera test for colorectal cancer developed?

Colvera is the result of almost a decade of research, development, and clinical validation studies, including testing in more than 4000 clinical trial subjects

Colvera was developed by Clinical Genomics in partnership with Flinders University (Adelaide, Australia) and the Commonwealth Scientific and Industrial Research Organisation (CSIRO), the national federal government agency for scientific research in Australia.

How can genomic diagnostics improve outcomes?

Genomic diagnostics have the potential to identify colorectal cancer (CRC) recurrence at an early stage, when clinical intervention is most likely to be successful. Some cancers show limited or no benefit from earlier detection; in contrast, CRC patients whose recurrent cancers have been detected early and resected have been shown to have significantly improved overall survival compared to patients whose recurrence is detected at a point when resection is not possible. 

Are genomics diagnostic tools associated with reductions in health care costs and utilization?

Numerous studies have demonstrated that molecular diagnostics may reduce health care costs and improve patient outcomes. These benefits generally result from more individualized diagnostic information that allows a patient to either forgo a treatment that would likely be ineffective in their case, or to access an intervention (surgical or therapeutic) that is likely to improve their health outcome. 

How do gene-based diagnostics differ from traditional diagnostic tools in terms of outcomes delivery?

In some cases, gene-based diagnostics may be very different from traditional diagnostic tools, while in other cases they may be quite similar. Mutation testing can be highly specialized and designed to detect important, sometimes unique, changes among individuals or very small groups of patients—and this can prevent or limit the ability to draw evidentiary conclusions from existing diagnostic tools.  Alternatively, a test such as Colvera can follow a similar test-treatment pathway to an existing biomarker test, but with better diagnostic accuracy—in which case outcomes evidence from the older test can support the effectiveness of a better, newer test. 

Can you discuss how Colvera works?

When CRC relapse occurs, tumors may begin to release DNA into the bloodstream. These molecules are known as circulating tumor DNA (ctDNA). Colvera is a clinically validated, PCR-based blood test that detects the presence of two altered genes (BCAT1 and IKZF1) in ctDNA associated with colorectal tumor growth. By indicating the likely presence or absence of CRC, Colvera may help providers make better-informed decisions.

How accurate are the results?

Currently, the standard non-invasive test for CRC recurrence monitoring is a blood test for carcinoembryonic antigen (CEA), a 40-year old immunoassay that measures the amount of a protein that may appear in the blood of a CRC patient. Although CEA has been used for more than three decades to monitor patients for cancer relapse and spread, the test has well-recognized performance issues and may yield false positive results that can be caused by lifestyle factors and other non-cancer conditions.

In a recently published study in Cancer Medicine, Colvera detected two times the number of recurrent cancers compared to CEA. Of 122 patients tested, 28 patients developed a recurrent CRC and Colvera detected recurrence in 19 compared to 9 patients detected by CEA. 

Are there any barriers to genomics testing uptake? Are costs a prohibitive factor? 

Physicians are eager to integrate molecular diagnostics into their practices where appropriate; however, a lack of payer coverage can limit their willingness to discuss new technologies with their patients. Similarly, the potential for substantial out-of-pocket costs can lead patients to avoid what may be a physician-recommended life saving test.  While the industry is working to reduce testing costs, some mutation-panel testing can cost $5000 or more.  Clinical Genomics has focused on lower cost technology and has limited the price of Colvera to several hundred dollars in order to share the value of our test with patients and their payers. 

Do you see an increase in the amount of payers willing to cover genomics testing?

A survey of recent medical policy changes clearly shows that payers are increasingly receptive to gene-based diagnostics. 

Are there any adverse outcomes associated with genomics diagnostics?

Molecular diagnostics that are designed to aid physicians in the management of a patient’s condition, generally in concert with other diagnostic tools, are unlikely to independently drive adverse outcomes. This is especially true with
blood-based “liquid biopsy” assays, which avoid the cost and potential harms that can come from a tissue biopsy.

What specialty areas are impacted most by recent developments in genomics testing?

Oncology, obstetrics, pediatrics, and neurology are probably the specialties that have been most impacted to date by advances in molecular diagnostics. It seems likely that in the very near future all fields of medicine will utilize genetic and molecular testing to guide diagnosis and treatment decisions.