Some patients with cancer undergo genetic or molecular profiling to identify any genetic alterations that may be targetable by a specific therapy or to provide prognostic information that may help guide treatment decisions.1 Whether or not a patient will receive this testing depends on multiple factors such as their cancer type, cancer stage, and other characteristics. Family history of disease and the associated costs of testing are also factors that influence whether a person’s genetic information is analyzed.2 Molecular profiling has been shown to be particularly useful (and is frequently harnessed) in non-small cell lung cancer (NSCLC), for example, but is not yet commonly used for kidney cancer.3,4
There are numerous different kinds of tests that can be used to identify genetic aberrations, and this number continues to grow. Similarly, insurance reimbursement is also continuously evolving, so the cost of these tests to patients can vary. Insurance may cover some, all of, or none of the costs of a chosen assay; in some cases, laboratories may or may not bill patients for the remainder of the cost not covered by insurers.5
Generally, molecular profiling can be categorized by the number of genes or gene products (ie, proteins) being tested simultaneously, but it can also harness multiple tumor profiling technologies. Certain tests can also detect genomic signatures such as microsatellite instability and tumor mutational burden from a patient’s DNA. Historically, molecular profiling of select genes was common.1 For example, in NSCLC, single-gene testing of EGFR was common and is still an option.3 These targeted tests for more common gene mutations, such as EGFR, BRAF, and KRAS, are typically covered by Medicare and private insurance companies.6
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The fee for these specific single-gene assays was approximately $200 in 2017, according to the Centers for Medicare and Medicaid Services’ (CMS’) clinical laboratory fee schedule, although as noted previously, out-of-pocket costs to the patient can vary.7 The same year, the fees listed for broad molecular profiling tests began at $600 but often fell somewhere within the range of $3000 to $6000.7
A scan of the CMS fees in 2019 revealed that they varied widely depending on the type of sequencing test ordered. The tests listed exactly as “genome sequence analysis” in the file were associated with 2 prices: $5031.20 and $2709.95 for codes 81425 and 81426, respectively. The fee listed for exome analysis, represented by code 81416, was $12,000.8
