Genetic Oncology Testing Is Complex, but Coverage and Reimbursement Don't Have to Be

Laboratory services that identify genetic markers of cancer help predict future cancer, identify existing disease, and guide treatment decisions in oncology care. Despite this foundational role in cancer care, laboratory test services often face coverage and reimbursement pressures from health plans that struggle to evaluate the tests’ clinical and economic value. Both oncologists and payers face an avalanche of information on diagnostic tests, which confuses treatment, coverage, and reimbursement decisions. Despite this, physicians and genetic counselors are willing to evaluate the data à la carte in the context of each patient. Genetic testing has quickly become an accepted aspect of mainstream medicine.¹

Genetic testing holds clear value for oncology, but how do payers assess whether a test can provide enough value to warrant appropriate coverage and reimbursement for the right members?

HOW GENOMIC TESTING CREATES VALUE

Diagnostic laboratory services in an oncology setting can pose unique challenges, and it is important that payers understand these issues when making coverage and reimbursement decisions. For example, whereas some genetic tests are well validated and guideline supported, others might identify mutations that are uncommon or for which limited therapeutic interventions exist. In other cases, tests may not be rigorously evaluated or may even provide unclear or conflicting information. Some genetic tests may pose ethical or social implications.

A health plan may employ several criteria to assess the value of a genetic test service. Health plans can leverage one or more of the many frameworks designed to guide test assessment. The CDC’s Office of Public Health Genomics established and supported the ACCE Model Project, which developed the first publicly available analytical process for evaluating scientific data on emerging genetic tests. The ACCE model, which gets its name from the 4 main criteria (analytic validity, clinical validity, clinical utility, and ethical, legal and social implications), helps payers navigate the challenges of genetic testing to determine which tests provide true value.

The ACCE framework has been used in the United States and worldwide for evaluating genetic tests. It includes collecting, evaluating, interpreting, and reporting categorical evidence on particular genetic tests so that policy makers have access to current and reliable information. The ACCE process comprises a standard set of 44 targeted questions that frame each of the major categories. Questions also address the nature of the disorder, the clinical setting, and the type of testing. Ethical, legal, and social considerations are a component of the evaluation of clinical utility.

• Analytic validity refers to technical test performance—the ability to test accurately and reliably for the genetic variants of interest in the clinical laboratory in specimens that are representative of the population of interest. Analytic validity includes analytic sensitivity, analytic specificity, laboratory precision, and assay robustness.

• Clinical validity refers to the ability to identify or predict accurately and reliably the clinically defined disorder or phenotype of interest. Clinical validity encompasses clinical sensitivity and specificity and predictive values of positive and negative tests that take into account the prevalence of the disorder.

• Clinical utility refers to the evidence that the genetic test improves clinical outcomes and adds value for patient-management decision making compared with current management without genetic testing.

• Ethical, legal, and social implications addresses the fact that unique characteristics make genetic testing especially prone to ethical, legal, and social issues. For example, genetic information is permanent, and a patient must be prepared to assimilate new information, knowing that it cannot be taken back or changed. This can be a source of anxiety for those who do not contemplate the value of the information and its impact on their lives. Genetic information is also often predictive. There are psychological, financial, and social risks of learning one’s personal or reproductive risk for a genetic disorder. Genetic test results may also affect relatives who may or may not want to know this information.

Several additional factors are considered, such as access to downstream remedies or actions, access for vulnerable populations, quality assurance measures, educational materials, and evaluation of program performance.²

Innovation in oncology is moving at breakneck pace. Genetic testing can affect diagnosis and treatment, so it is imperative that payers reevaluate how they make coverage and reimbursement decisions for services as new evidence of their value emerges.

NOT ALL LAB TESTING IS THE SAME: THE CASE FOR RESPONSIBLE LAB TESTING

Making coverage and reimbursement decisions for a genetic test should never occur outside the context of the laboratory provider that offers it.

Determining whether or how to reimburse is as complex as the testing itself. However, payers can take 4 simple steps to ensure they both provide patients access to the care they need and are responsible to their business.

1. Partner with lab service providers with clinical genetics expertise. Physicians struggle to identify appropriate test services and interpret results. Next-generation sequencing (NGS), an advanced technique of identifying gene variants, is a mainstay of today’s cancer testing for solid tumors and hereditary cancers. However, according to the results of 1 survey of oncologists, 11% of respondents found NGS test results very difficult to interpret, and 40% found NGS test results difficult to interpret sometimes.³ At Quest Diagnostics, a team of medical directors and genetic counselors is on hand to help physicians navigate the complexities of genetic testing, guiding test selection and results interpretation.

2. Select panels based on quality, not quantity. Some lab providers offer test panels with several hundreds of genes. Yet, for most cancers, the number of actionable genes, based on current evidence, is just a few dozen. Providing coverage and reimbursement for test services based on actionable genes will reduce waste—

and lower the risk of improper care. Quest focuses on developing panels that provide actionable insight to influence precision care panels based on the ACCE framework.

3. Use tests designed for clinical practice. For patients today, purchasing a genetic test to assess cancer risk is as easy as clicking to place it in an Amazon shopping cart. However, consumer genetic tests may not always meet the same level of rigor as clinical services. A recent study found that an FDA-cleared consumer genetic test that identifies 3 founder mutations of the BRCA1/ 2 genes would miss nearly 90% of patients with mutations associated with hereditary breast and ovarian cancers.⁴

4. Chose providers with bioinformatics expertise. Lab testing today is a high-tech endeavor, with bioinformatics and data analytics driving the ability to sort through countless data to surface actionable information. Seek lab partners with a demonstrated commitment to turning information into insights—and a quality of information

technology staff and infrastructure to support it. A test that isn’t designed for clinical practice may miss a variable amount of content depending on genes, miss mutations, and have poor sensitivity or specificity.

Finally, when grappling with coverage and reimbursement decisions, it’s most important to put the patient first. At the end of the day, healthcare is about patient care. This should be the guiding light that influences access to genetic testing. A patient who receives the right test at the right time may experience quicker access to therapy, better outcomes, and, ultimately, lower costs. Delaying access to a test or not providing access to a test that is optimal for a patient (eg, when a patient needs NGS instead of exome sequencing), can negatively affect patient health and increase costs. Author Information

L. Patrick James, MD, is the chief clinical officer of health plans and policy for Quest Diagnostics, the world’s leading diagnostic information service, including advanced diagnostic testing to improve oncology care. Quest and its AmeriPath business are just 1 of 5 laboratories selected by UnitedHealth Group.References

1. Philips KA, Deverka PA, Hooker GW, Douglas MP. Genetic test availability and spending: where are we now? where are we going? Health Aff (Millwood). 2018;37(5):710-718. doi: 10.1377/hlthaff.2017.1427.

2. Committee on the Evidence Base for Genetic Testing. Genetic test assessment. In: National Academies of Sciences Engineering, and Medicine. An Evidence Framework for Genetic Testing. Washington, DC: The National Academies Press; 2017: Chap 3; pg 55-57.

3. Freedman AN, Klabunde CN, Wiant K, et al. Use of next-generation sequencing tests to guide cancer treatment: results from a nationally representative survey of oncologists in the United States [published online November 13, 2018]. JCO Precis Oncol. doi: 10.1200/PO.18.00169.

4. Esplin ED, Haverfield E, Yang S, Herrera B, Anderson M, Nussbaum RL. Limitations of direct-to-consumer genetic screening for HBOC: false negatives, false positives and everything in between. Presented at: San Antonio Breast Cancer Symposium; December 4-8, 2018; San Antonio, TX. Abstract P4-03-06. doi: 10.1158/1538-7445.SABCS18-P4-03-06.