Precision medicine has advanced in part due to progress in identification and diagnosis of oncogenic driver mutations. These advances have led to the development of new therapies targeting these mutations and improved patient outcomes. The American Society of Clinical Oncology and the European Society of Medical Oncology (ESMO) have introduced guideline recommendations for biomarker-guided diagnostics and treatment, including biomarker sequencing, for patients with advanced or metastatic cancer. Next-generation sequencing (NGS) can identify multiple biomarkers from a single tissue sample and is the only method to identify multigene molecular signatures. Although NGS offers the advantage of optimizing time to diagnosis and treatment, its implementation has been slowed due to lack of standardization and expense. For patients with non–small cell lung cancer (NSCLC) and colorectal cancer (CRC), NGS has demonstrated superior cost benefit compared with single-gene testing (SGT), but data on other tumor types are not available.
To tailor economic data applicable to NGS testing in oncology, analyses need to be specific to the tumor type, price and performance characteristics of the tests, and specific genomic alterations that may vary due to treatment setting or across regions. To inform policies with genomic testing in oncology, researchers developed a novel metric: cost per correctly identified patient (CCIP). This metric was tested in a new genomic testing cost calculator to compare the cost of targeted-panel NGS with sequential SGT in obtaining an accurate diagnosis. In addition, the study analyzed the clinical utility of this calculator based on the ESMO NGS recommendations for approved targeted treatments. A targeted literature review was conducted to determine sensitivity and specificity values of relevant diagnostic tests. For NGS, sensitivity was estimated to be 84.98% and specificity was estimated to be 98.50%, but other studies have estimated a higher sensitivity rate for NGS. Sensitivity for immunohistochemistry (IHC) was estimated to be 92.54%; for fluorescence in situ hybridization (FISH), it was estimated at 89.58%; and for polymerase chain reaction (PCR)/quantitative PCR (qPCR), it was estimated at 93.41%. Specificity estimates were IHC 86.45%, FISH 97.67%, and PCR/qPCR 94.79%.
Cost calculations were made using the test published price with a range of prices included due to price variation between health systems and countries. At base case, the CCIP for nonsquamous NSCLC was €1983 for sequential SGT and €658 for NGS. For advanced squamous NSCLC, the CCIP was €35,259 for sequential SGT and €21,637 for NGS. Lower costs for NGS were found with metastatic CRC, breast and gastric cancers, and cholangiocarcinoma. When alternative scenarios were analyzed at different price estimates, the same general trend was found.
Source: Stenzinger A, Cuffel B, Paracha N, et al. Supporting biomarker-driven therapies in oncology: a genomic testing cost calculator. Oncologist. 2023;28(5):e242-e253.