New research on the use of genomic testing developed via a partnership of the Personalized Medicine Coalition (PMC), the Blue Cross Blue Shield Association, Concert Genetics, and Illumina shows a wide variation in the application and inconsistency in the use of genomic testing to inform clinical care across the U.S.
One surprising finding of the report, “Understanding Genomic Testing Utilization and Coverage in the US,” which compared real-world claims data and payer coverage policies for genetic tests, was that inconsistencies of the use of these tests existed even in geographies with favorable payer coverage policies.
“(This report) reminds us that we need to address a wide range of clinical adoption issues in order to facilitate more widespread utilization of the tests and treatments underpinning personalized medicine, which benefits patients and health systems by targeting treatments to those who will benefit,” said Edward Abrahams, president of PMC.
For this study, the partners examined data in all 50 states for three different types of tests: noninvasive prenatal testing (NIPT), whole-exome sequencing (WES), and comprehensive genetic profiling (CGP) of tumors of patients with advanced cancer. The report found significant variability in the use of these tests for patients not only from state to state, but also within states.
A longstanding assumption in the personalized medicine field is that testing rates would be much higher in areas where payers reimbursed for these tests and lower in areas where there was little or no coverage as clinicians would typically shy away from adding direct out-of-pocket costs for their patients. Yet the report showed that even within some geographic areas with high rates of coverage for these tests, that there remained inconsistent use of the tests, indication there are other factors also at play beyond reimbursement contributing to underutilization.
One such factor might simply be a lack of education in the provider community about the tests and which ones will be reimbursed.
“There is a considerable amount of confusion regarding coverage policy and payments and processes around reimbursement for genomic testing, and knowing that these are unclear is deterring physicians—they don’t even think to use them because they think it is a difficult process to manage,” Daryl Pritchard, told Clinical OMICs.
Some of this confusion may be related to the ever-changing landscape of payer reimbursement from state to state. “If coverage policies are not clear or are difficult to navigate, (healthcare providers’) abilities to utilize genomic testing would likely be lower,” the report noted. “However, it is likely that coverage policy issues do not entirely explain inconsistent utilization. This is because favorable policies do not always correlate with higher estimated utilization rates, observed in many cases and clinical contexts.”
Other factors influencing wider utilization include social determinants of health—racial, ethnic, and socioeconomic health disparities—and health system economic forces that may make adding genomic testing cost prohibitive for some healthcare systems and clinics.
For PMC, the goal of helping to promote adoption of genomic testing to provide more personalized approaches to healthcare is a challenge. According to Pritchard, while there are a leading-edge health systems and academic medical centers that have adopted genomic testing as standard of care, these are still the exception and not the rule.
Some of the difficulty lies in exactly who to target at these smaller systems and clinics with information. While Pritchard says PMC targets clinical lab directors and those in the C-suite for education about genomic testing, this is not a sure-fire approach.
“I’m not sure how well that approach penetrates,” Pritchard admitted. “A lot of times the best strategy is to find a champion, someone within the system, who is willing to move it forward and promote.”
Once a champion is identified, it can be much easier to provide the necessary education to that person within a health system or clinic who can help drive adoption—information such as case studies of those healthcare providers that have adopted genomic medicine within their systems to provide a roadmap for implementation.
Health economic data is also important in this effort to win over providers, to let them see in black and white that providing these tests improve outcomes while also decreasing overall healthcare costs. While development of these data are still in early stages for many areas within healthcare, using genomic testing to diagnose and treat critically ill newborns is one shining example of improving clinical outcomes while also saving on the total cost of care.
“The use of whole-exome and whole-genome sequencing for rare and undiagnosed diseases is a great example,” Pritchard said. “The Personalized Medicine Coalition is working with the community on trying to improve the utilization of genomic testing for those patients. The message is getting out thanks to Rady Children’s and other children’s hospitals like Nicklaus Children’s Hospital in Miami, and others, that are now regularly doing it and making the data available of the success and the value benefits of doing genomic testing.
“We have been working on this for three years and have seen a great deal of improvement and adoption,” Pritchard concluded.