Comprehensive genomic profiling, one of the shiny new tools in cancer diagnostics, warrants greater scrutiny as does a federal process aimed at speeding up the review of proposed new medical technologies—those are conclusions of Yale medical experts in a recent report in the Journal of the National Cancer Institute.
“Over the past decade, we have seen tremendous technological leaps forward in the realm of genetic testing and cancer,” said senior author Cary P. Gross, MD, professor of medicine and of epidemiology, and director of Cancer Outcomes, Public Policy and Effectiveness Research (COPPER) Center, part of Yale Cancer Center at Yale School of Medicine.
Genomic profiles are meant to help clinicians understand the unique genetic makeup of a person's cancer in the hopes of informing decisions about the most effective treatments.
“We can now test a tumor sample for hundreds of genetic mutations at a time,” Gross said. “In some ways, our ability to develop powerful new testing technologies has leap-frogged ahead of our ability to determine whether they are helping people. This is a particularly important issue now, because new genetic tests are being developed not only for patients with cancer, but as an approach to screening healthy patients.”
In the report, the Yale researchers set out to evaluate the 113 peer-reviewed scientific studies cited in support of the Centers for Medicare & Medicaid Services (CMS) decision to follow the Food & Drug Administration (FDA) in approving a new comprehensive genomic profiling tool. CMS approval meant it would cover the comprehensive profiling as part of treatment, as it outlined in its National Coverage Determination Memorandum.
“We found that in this initial assessment of comprehensive genetic testing undertaken by CMS (to guide Medicare reimbursement decisions)…there was a paucity of studies that closely assess the impact of genomic testing on patient outcomes,” said Gross.
“For instance, when we reviewed the literature underlying the Medicare decision to provide reimbursement for these complex sequencing tests, only one compared the outcome of patients who received the test with those who did not,” Dr. Gross said of the study, which which was led by Sydnie Stackland, MS, and also included Michaela Dinan, PhD, an associate professor of epidemiology at Yale School of Public Health, and co-leader of the Cancer Prevention and Control Research Program at Yale Cancer Center.
In all, the analysis “found substantial variability in study designs and relatively small samples sizes. Moreover, only a handful of studies used the newly approved genomic profiling product; the variation in the size and type of genetic panels used across studies made extrapolation of the supporting evidence to any specific comprehensive genomic profiling platform challenging, a concern that other researchers have echoed,” the paper said.
Beginning in 2011, CMS and the FDA were permitted to review medical technologies simultaneously as part of a parallel review process, instead of one after the other, in an attempt to put new technologies into the marketplace faster. So far, two technologies have been approved by the agencies.