NEW YORK – Pharmacogenomics company representatives and the American Cancer Society called for broader and more uniform biomarker testing legislation across the US throughout talks at Cambridge Healthtech Institute's annual Precision Med Tri-Con meeting in San Diego last week.
During a session consisting of four speaker presentations and a panel discussion on leveraging biomarker legislation toward equitable access to precision medicine, Kristine Ashcraft, president and founder of pharmacogenetics company YouScript, pointed to three barriers to better biomarker testing that can be addressed through legislation: education, alignment of guidelines with reimbursement, and more uniform pharmacogenetic and pharmacogenomic (collectively PGx) testing policies.
"Most providers did not get genetic testing education when they were in school or [got] very limited education," Ashcraft said. One way in which legislation can mitigate this knowledge gap is by integrating genetic test results into electronic health records (EHRs) in a way that makes them easily searchable, enabling physicians to better know who to test, how to act on test results, and who to refer patients to when help is needed.
Another way to use legislation to lower biomarker testing barriers, Ashcraft suggested, would be to align guidelines with reimbursement, especially with respect to panel coverage and comprehensive testing coverage.
"A lot of patients who would benefit from biomarker testing to inform their care are missing out," said Hillary Goeckner, director of state and local campaigns for the American Cancer Society Cancer Action Network (ACS CAN). "And one of the significant challenges is that insurance doesn't always cover the testing that is appropriate for that patient."
Twenty US states have so far passed legislation mandating some degree of coverage for biomarker testing and similar bills are working their way through another 13 state legislatures.
Goeckner and others pointed out that state laws can vary considerably in what coverage they mandate. Pennsylvania and New York, for example, mandate coverage only when the testing lab is in network, while Arizona and Nevada mandate coverage only for cancer testing. Other states mandate coverage only for Medicare and Medicaid, or only for commercial payors. Further complicating matters, definitions of medical necessity can also vary across state lines.
Bills to address these issues, often with advice from ACS CAN, are making their way through several state legislatures. A bill was introduced last week in Nevada, for example, that would expand that state's requirement for biomarker coverage to include tests beyond just those for cancer.
Finally, Ashcraft said that laws are needed to lower barriers to PGx testing specifically.
Burns Blaxall, senior VP of precision medicine at diagnostics software and services company Aranscia (YouScript's parent company), said that PGx testing is a key unmet need in terms of coverage. Adverse drug reactions, he said, are the fourth leading cause of death in the US and between the fourth and sixth leading cause of death worldwide.
"Sixty percent of doctor visits in the United States result in prescriptions, and some of those are to combat the problems of the other meds," Blaxall said. "This costs our healthcare system more than double what any other major disease costs us to take care of."
Not all payors, however, are convinced that current PGx test panels are truly medically necessary. Last year, for instance, UnitedHealthcare ended its coverage of Myriad Genetics' PGx multigene panel tests due to insufficient evidence of their efficacy and unproven utility in determining an individual's drug metabolizer status.
Ashcraft further said that to effectively leverage biomarker legislation toward equitable access to PGx testing access, challenges surrounding billing and coverage rules for pharmacologists and genetic counselors needed to be addressed.
Whereas many underserved patient populations, such as those in rural settings, may not have easy access to a physician, much less a specialist, they are much more likely to live near a pharmacist, thanks in large measure to the proliferation of major pharmacy chains such as Rite Aid and CVS.
"[Pharmacists] are highly trained specialists that we are underutilizing in health care," Ashcraft said, adding that pharmacist training includes, on average, approximately five times the number of hours of education in pharmacology and pharmacotherapy than physicians do.
Ashcraft noted that because neither pharmacists nor genetic counselors are federally recognized as healthcare providers, they frequently encounter obstacles when attempting to bill for their services, leading to protracted conflicts with payors and higher out-of-pocket costs for patients.
Julie Wiedower, director of medical affairs at liquid biopsy firm Guardant Health, added that coverage for genetic counselors could be especially impactful since such services can be easily provided via telemedicine, which is particularly useful given the declining numbers of genetic counselors in practice.
"Genetic counselors are able to select the right test for the right patient at the right time, and we know that outcomes are best when you have genetic counseling prior to testing," said Wiedower, a genetic counselor herself.
In addition to challenges of reimbursement and declining numbers, some genetic counselors also face attempts to deregulate their field. Earlier this year, for instance, a bill to repeal an Idaho state law requiring genetic counselors to obtain professional licenses to practice in that state was introduced. Although that bill failed to advance during this legislative session, its sponsor, state Rep. Jeff Ehlers, signaled that he may attempt to reintroduce it.
One federal PGx bill that has seen support from stakeholders is the Right Drug Dose Now Act, first introduced in 2022 and again in 2024. This bipartisan bill calls for the use of evidence-based PGx testing to prevent adverse drug events. Importantly, it includes provisions for updating electronic medical records (EMRs) with PGx test results in a way that is easily accessible and searchable by healthcare providers.
"Unlike most single-payor healthcare systems, the US does not have a single EMR," Blaxall said. "The majority of precision medicine tests are not even entered into the EMR as discrete and searchable data."
Although the Right Drug Dose Now Act did not survive passage through the last congressional session, ACS CAN's Goeckner said that its sponsors do intend to resubmit it.
Despite the complicated challenges to ensuring equitable access to biomarker testing, experts expressed optimism. Paul Sheives, VP of government affairs at Myriad Genetics, said that while we are used to seeing support for legislative measures break along partisan lines, biomarker testing tends to enjoy broader support.
"The debate about biomarkers is really bipartisan," he said. "Everybody wants to see it happen."
That broad support may also extend to the general population.
"Patients want to be informed about pharmacogenetic testing and biomarker testing in general," Ashcraft said.