Key Takeaway: Regulators and payers may need to change how they approve diagnostics and assess their benefits, to reap the benefits of tests that identify genes instead of germs.
How can innovative diagnostic tests prove their value in helping clinicians make treatment decisions? Regulators and payers must decide how they’re going to measure that value, and may have to abandon traditional clinical trial models, said panelists at the Health Evolution Summit panel discussion “Diagnostics Reimagined: Leading an Era of Prevention.”
“The single largest opportunity to reduce costs is the diagnostic field,” said Chad Robins, co-founder and CEO of Adaptive Biotechnologies, which specializes in immune-system diagnostics. Its clonoSEQ Assay, recently approved for Medicare coverage, monitors minimal residual disease (MRD) in patients with multiple myeloma and B-cell acute lymphoblastic leukemia, using DNA from bone marrow samples.The test allows clinicians to monitor patients for changes in disease burden during and after treatment, predict patient outcomes, assess response to therapy over time, monitor patients during remission, and detect potential relapse.
“We can determine, first whether the treatment worked, and second, whether that cancer is coming back,” Robins said. The next step is to detect cancer much earlier than is now possible by monitoring small changes in the immune system, signaling that the body is gearing up for a fight. “Your immune system is a natural diagnostic as well as a natural therapeutic, and we are tapping into that information to create clinical products. It’s not just cancer, it’s any disease that’s immune-mediated, which turns out to be most diseases.” Robins said Adaptive Biotechnologies is partnering with Microsoft to apply machine learning to analyze immune system activity.
“Diagnostics drives personalized medicine, period,” said Mike Pellini, MD, managing partner of venture capital firm Section 32 and former chairman of genomic testing company Foundation Medicine. He cited the example of a friend’s father, recently diagnosed with pancreatic cancer that had started to spread to the bile duct and the liver. The treating oncologist sent a sample of the tumor to Foundation Medicine for genomic profiling, and found that it contained a JAK2 mutation, which is associated most often with bone marrow disorders but is found in less than 1% of pancreatic tumors.
There are drugs, both on the market and in clinical trials, that inhibit the activity of this mutation, but they haven’t been tested or used in patients with pancreatic cancer, so for this particular patient with this particular tumor, there wasn’t the usual regulatory approval and payer support.
Fortunately, the payer saw the clinical logic of giving the JAK2 inhibitor to the patient, and issued approval within two weeks for an off-label use. “This is how the system should work,” Pellini said. “We know these challenging cancers are going to recur, so how do we get to the point where there’s a plan B and C and D, and do it in a cost-effective manner? Diagnostics is a key element of that.”