KIDNEY CANCER
OVARIAN CANCER
A TIMELINE OF PRECISION ONCOLOGY DIAGNOSTICS
2000
2010
2020
HISTOPATHOLOGY & IMAGING Broad cancer classification, limited molecular insight
SINGLE-GENE BIOMARKER TESTING (HER2)
PANEL-BASED TESTING & PCR/ISH ASSAYS More refined subtyping eligibility for multiple therapies
NGS & COMPREHENSIVE GENETIC PROFILING (CGP) Multi-biomarker detection pan- cancer testing, liquid biopsy
First targeted therapies enabled by diagnostics
Milestones in the Advancement of Oncology Diagnostics
generation sequencing (tNGS) expanded diagnostic capabilities by allowing the simultaneous analysis of dozens to hundreds of cancer-relevant genes, improving mutation profiling and therapy selection. More recent advances in sequencing technology, including improvements in short- and long-read platforms and library preparation, have made whole- genome sequencing (WGS) clinically feasible, enabling high-accuracy, full-genome coverage. Although not yet widely adopted in clinical practice, WGS continues to emerge as a powerful tool for comprehensive tumor characterization, capable of uncovering rare, novel, and complex genomic alterations. Overall, while many technologies have contributed to the advancement of cancer care, qPCR, tNGS, and WGS have been the primary drivers of clinical adoption—transforming molecular diagnostics from a research tool into a cornerstone of precision oncology. 5
Advances in cancer biology have exposed the limits of traditional diagnostics such as histology and immunohistochemistry, driving a shift toward molecularly guided decision-making that is redefining how clinicians classify and treat cancer. Large-scale genomic studies 3, 4 conducted over the past two decades have identified key driver mutations, signaling pathways, and molecular subtypes across diverse cancers, revealing the underlying heterogeneity of tumors once considered homogeneous. This paradigm shift in cancer understanding has underscored the need for precise, molecular-level diagnostics capable of detecting clinically relevant changes. Technologies such as quantitative PCR (qPCR) initially met this need by enabling high- sensitivity detection of specific, actionable mutations— laying the foundation for modern companion diagnostics (CDx). The advent of targeted next-
Quantitative PCR
Targeted Next-Generation Sequencing
Whole-Genome Sequencing
3
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