Research outlines challenges for adoption of new genetic tests

Every day, on average, ten new genetic tests become commercially available to help doctors and patients make more informed decisions about health care. Yet few doctors know how to navigate the tens of thousands of tests that populate the genetic testing marketplace, which prevents patients from benefiting from them, according to Kathryn Phillips, PhD.

Phillips, a faculty member in the UCSF School of Pharmacy’s Department of Clinical Pharmacy and the founding director of the UCSF Center for Translational and Policy Research on Personalized Medicine (TRANSPERS), has spent over two decades analyzing how advances in genetic testing are approved, adopted, and paid for. Until recently, though, no one had assessed, in its entirety, the broad array of genetic tests that doctors must now choose from if they want to provide personalized care to their patients.

“If I were a provider trying to figure out what to order, that's where this is in some way the Wild West, because we have so many tests out there,” Phillips told the Washington Post in a recent article (Medicine’s Wild West: 10 new genetic tests enter the market each day). “Trying to sort out what to use, when, and how much to pay for a test is pretty complicated.”

To get a handle on the scope of this problem, Phillips and her colleagues looked at 75,000 currently available genetic tests, which encompass 10,000 genes and dozens of various health conditions and diseases. The study, published recently in Health Affairs (Genetic Test Availability And Spending: Where Are We Now? Where Are We Going?), cataloged the number and types of genetic tests available to doctors, and then investigated insurance expenditures on these tests.

The researchers found that insurers spend the most on genetic tests for prenatal conditions and hereditary cancer genes, followed by all other types, such as tests that can help doctors choose the most effective drugs for particular patients.

As some of Phillips’ other recent publications have demonstrated over the last few months, simple availability of a genetic test isn’t always enough to spur its adoption or use in the health care system. For example, the Centers for Medicare and Medicaid Services recently committed Medicare to covering certain types of FDA-approved genetic tests for advanced cancer patients—but there’s no guarantee that private insurers will follow suit, nor that other types of genetic tests will similarly be covered in the future.

And even if insurers do decide to cover genetic tests, doctors must learn which tests are appropriate for which medical situations, and then learn how to thoroughly inform patients of the costs and benefits of each.

Phillips’ finding, that prenatal tests are now being widely used to help expectant parents make important health care decisions, clearly reflects this process. “[Prenatal testing] was one of the most rapidly adopted and covered tests,” Phillips told the Washington Post. “It got huge market acceptance, and insurers now cover it pretty routinely for high-risk women.”

This landscape of genetic testing may currently be foreign to much of the modern health care system, but thanks to Phillips, advances in precision medicine are slowly but surely making their way from bench to bedside.



School of Pharmacy, Department of Clinical Pharmacy, PharmD Degree Program

About the School: The UCSF School of Pharmacy aims to solve the most pressing health care problems and strives to ensure that each patient receives the safest, most effective treatments. Our discoveries seed the development of novel therapies, and our researchers consistently lead the nation in NIH funding. The School’s doctor of pharmacy (PharmD) degree program, with its unique emphasis on scientific thinking, prepares students to be critical thinkers and leaders in their field.