From Sample to Insight: Technologies Driving the Future of Precision Oncology Assays
Non-small cell lung cancer (NSCLC) : EGFR mutation testing determines eligibility for anti-EGFR tyrosine kinase inhibitors (TKIs), such as the first-generation agents gefitinib (Iressa) or erlotinib (Tarceva). Metastatic melanoma : BRAF mutation testing identifies candidates for BRAF-targeted therapies like dabrafenib (Tafinlar), alone or in combination with MEK. More recently, treatments have been developed for KRAS G12C mutations and PIK3CA hotspot mutations (e.g., codons 542, 545, and 1047), further expanding mutation-specific therapeutic options. 6 The field has also progressed toward identi- fying more complex alterations, including gene fusions and germline mutations. For instance,
the PML-RARA fusion in acute myeloid leukemia defines a subgroup with exceptional sensitivity to retinoic acid and arsenic trioxide. Similarly, gene fusions involving ALK, RET, ROS1, FGFR2, NTRK, and NRG have become actionable biomarkers used to match patients to targeted therapies across multiple tumor types. 7 Collectively, the integration of biomarkers into oncology practice enables earlier and more accurate diagnosis, patient stratification based on risk or therapeutic response, personalized therapy selection to increase efficacy and reduce toxicity, real-time treatment monitoring, and long-term surveillance to detect recurrence earlier than traditional imaging.
Timeline of biomarker test approvals by the US Food and Drug Administration. Image adapted from: Zhou, L., Xu, N., Zhang, T., & Wang, Y. (2022). The role of biomarkers in personalized immunotherapy. Biomarker Research, 10, 32. https://doi. org/10.1186/s40364-022-00378-0
GENengnews.com | 7
Powered by FlippingBook