![]() The role of these biomarker techniques in NSCLC, including their diagnostic and economic value, has not been clearly defined. LBx techniques can be used to test for circulating tumor DNA (ctDNA), circulating tumor cells, exosomes, platelets and microRNAs. NGS is tissue-sparing compared with conventional sequencing because it allows identification of a panel of genes using a single sample, but it has not replaced conventional sequencing despite progressive cost reduction. Strategies to ensure maximum testing yield from available tissue and to limit invasive procedures for the patient include multigene sequencing with next-generation sequencing (NGS) and liquid biopsy (LBx) techniques, respectively. As the number of potential genetic targets increases, prioritization of limited tissue is essential. However, with each biomarker testing procedure performed using a biopsy from an individual patient, the amount of tissue available for further biomarker testing is reduced. Genetic testing is thus required, either to guide appropriate selection of available therapies or to assess patient suitability for a clinical trial of a new therapy. Current treatment guidelines recommend tyrosine kinase inhibitor therapy for patients with actionable driver mutations, including EGFR, BRAF and RAS mutations, ALK, ROS1, RET or NTRK fusions and MET tyrosine kinase abnormalities (i.e., high-level MET amplification and MET exon 14 skipping mutation). Targeted therapy is an important treatment option for patients with NSCLC who have driver mutation-positive tumors. These patients typically have a poor prognosis, with 5-year survival rates of 24% for all NSCLC patients and of only 6% among those with metastatic disease. Non-small-cell lung cancer (NSCLC) affects approximately 85% of all patients with lung cancer. Lung cancer is the most common cancer worldwide and is the leading cause of cancer death for men and the second leading cause for women. ![]() Testing blood or urine was not as accurate as testing tissue, but it took less time for doctors to receive genetic test results and reduced costs. Reading the entire DNA sequence takes more time than testing one specific gene, but it might reduce overall costs. How accurate are different genetic tests? How fast can doctors get results from different genetic tests? How much do different genetic tests cost? We found that reading the entire DNA sequence was as accurate as testing one specific gene. In this review, we examined scientific reports to answer important questions about using genetic testing to find targetable mutations in patients with lung cancer. These tests can either look for mutations in one specific gene at a time, or they can use technology that reads the entire DNA sequence to observe multiple genes at once. To detect genetic mutations, doctors can test the blood or urine, or they can test biopsy tissue a small piece of the tumor removed from the lung. There are many methods to test for specific genetic mutations in patients with lung cancer. Patients with lung cancer with specific genetic mutations can benefit from medications that are specific to those mutations, known as targetable mutations.
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