Diagnostic and economic value of biomarker testing for targetable mutations in non-small-cell lung cancer: a literature review

We aimed to assess the diagnostic and economic value of next-generation sequencing (NGS) versus single-gene testing, and of liquid biopsy (LBx) versus tissue biopsy (TBx) in non-small-cell lung cancer biomarker testing through literature review. Embase and MEDLINE were searched to identify relevant studies (n = 43) from 2015 to 2020 in adults with advanced non-small-cell lung cancer. For NGS versus single-gene testing, concordance was 70-99% and sensitivity was 86-100%. For LBx versus TBx, specificity was 43-100% and sensitivity was ≥60%. Turnaround times were longer for NGS versus single-gene testing (but not vs sequential testing) and faster for LBx versus TBx. NGS was cost-effective, and LBx reduced US per-patient costs. NGS versus single-gene testing and LBx versus TBx were concordant. NGS and LBx may be cost-effective for initial screening.Plain language summary Patients with lung cancer with specific genetic mutations can benefit from medications that are specific to those mutations, known as targetable mutations. There are many methods to test for specific genetic mutations in patients with lung cancer. 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. 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. In this review, we examined scientific reports to answer important questions about using genetic testing to find targetable mutations in patients with lung cancer. 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. Reading the entire DNA sequence takes more time than testing one specific gene, but it might reduce overall costs. 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.