Molecular Diagnostic Testing in Non-Small Cell Lung Cancer

The discovery of targetable genomic alterations has revolutionized the field of personalized medicine in non-small cell lung cancer (NSCLC). As the number of clinically actionable drivers continues to expand, a thorough understanding of the molecular diagnostic platforms that are available for the detection of these changes is required to select the most appropriate test or group of tests in the clinic. This review summarizes the common oncogenic aberrations that occur in NSCLC and the diagnostic assays that are poised to detect them. Molecular diagnostic algorithms have undergone a significant evolution over time, moving from a "one-gene, one-test" paradigm to the inclusion of multiplex assays for common hotspot point mutations, and insertions and deletions. While current testing in most centers is characterized by a combination of several different single-gene or multiplex diagnostic assays, the advent of next-generation sequencing has provided a means of interrogating mutations, rearrangements, and copy number changes across a variety of therapeutically relevant oncogenes and tumor suppressor genes in a single test. As the cost of next-generation sequencing continues to decrease, this platform is likely to become the diagnostic test of choice for clinicians treating patients with advanced NSCLC.