Genetic testing in oncology: 5 things payers should know


As genomics continues to evolve, here are five things to know about genetic testing and counseling.

When it comes to cancer, the idea that genetic information can be used to shape personalized care has captivated the public’s imagination. As a result, payers face intense pressure from employers, laboratories and members to cover every promising new genomic test on the market.

Yet, just because a test exists doesn’t mean we fully understand the best ways to apply it. In the rapidly expanding science of genomics, technology often outpaces the ability to use it to improve patient outcomes, or even to accurately interpret the results. This means managed care executives today have tremendous opportunities to help promote the most current, evidence-based use of genetic tests in oncology care.

As genomics continues to evolve, here are five things to know about genetic testing and counseling to ensure that payers, patients and providers are getting the most out of these exciting technologies and the care they can inform:

  • A fair amount of tumor testing goes well beyond the current evidence for it. For laboratories, it can be easier and cheaper to offer the same large tumor panel to everyone than to run unique smaller tests based on indication. Unfortunately, this can lead to costly-and potentially ineffective-off-label uses of therapies. Faced with this one-size-fits-all approach, payers setting coverage policies can benefit from the expertise of genetics specialists who understand which tests are appropriate, what their results mean, and how to best apply those results for precision, evidence-based medicine.
  • Tumor profiling test results may point to underlying BRCA or other inherited mutations that should be addressed. Since the purpose of tumor testing is to guide treatment, oncologists may order testing without involving a genetics expert. In some cases, tumor testing may suggest the possibility of an underlying predisposition to cancer that is critical to address. This represents the opportunity to prevent future cancers in the patient and their family members. Tumor profiling clearly presents a substantial area of promise and growth, but to assure appropriate use, payers may need help identifying which tests should be covered within their policies, ensuring the correct tests are performed, and helping ensure that providers and patients understand the results of the test and can apply them to personalize care recommendations for the patient and their family.
  •  Liquid biopsy technology is exciting-but is it ready for prime time? Many currently offered liquid biopsy tests are a good example of technology that’s ahead of the science behind it. Although promising, liquid biopsy currently has limited application. Payers need to carefully weigh decisions about which tests should be approved for which clinical scenarios and may need assistance in evaluating the evidence.
  • There’s a lot of buzz, but little evidence to date, for emerging multi-omics tests. Some labs are approaching payers about multi-omics tests, which look not only at tumor genomics, but also other factors to profile a tumor’s proteins and metabolites. A single test that encompasses the entire biology of a tumor sounds enticing. However, there’s often even less evidence supporting the use of proteins and metabolites in cancer prediction, diagnosis and monitoring than for genomics. As multi-omics science advances, payers will need access to specialized knowledge to help make policy decisions around appropriate coverage.
  • Payers can play a pivotal role in advancing personalized medicine. Implementing policies that support appropriate use of advanced molecular and companion diagnostics isn’t the only way to expand personalized medicine. Payers can help build evidence for more effective oncology tests and treatments by exploring mechanisms to enhance enrollment in appropriate clinical trials, which will ultimately provide evidence to support even more advances in genetic testing and personalized treatments.

Precision medicine fueled by genetic testing is an exciting goal that nearly everyone embraces. But it is critical to separate the hype from evidence-based strategies in order to improve outcomes and minimize harm. When backed by deep genomics expertise, managed care executives can help support this goal by enforcing more evidence-based policies and promoting greater education and more research around these tests.


Rebecca Sutphen, MD, FACMG, is president and chief medical officer at InformedDNA, the nation's largest independent provider of genetics expert services.



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