Precision Oncology: From Single Mutations to Whole Genomes

FROM SINGLE MUTATIONS TO WHOLE GENOMES MOLECULAR TECHNOLOGIES SHAPING PRECISION ONCOLOGY DIAGNOSTICS

Innovation continues to drive increased access to precision oncology—enabling broader, faster, and more decentralized testing.

Future Outlook: Advancing the Next Era of Precision Oncology

with programmable targeting; AI-driven molecular pathology, which streamlines data interpretation and integrates histological and genomic insights; and multi-omics approaches, which synthesize genomic, transcriptomic, proteomic, and metabolic data for a more complete view of tumor biology. These trends are converging toward a future where diagnostics not only detect mutations but predict response, guide therapy adaptation, and anticipate resistance—all within modular, scalable platforms. To fully realize this future, assay developers must align technology decisions with clinical need, regulatory readiness, and deployment realities. That includes investing in ambient-stable assay formats, building in bioinformatics scalability, and forging expert partnerships to support manufacturing, interpretation, and regulatory compliance. Future-proofing assay design—through modularity, flexibility, and robust validation—will be key to ensuring long-term clinical and commercial impact. By combining scientific precision with strategic foresight, the diagnostics industry is well-positioned to lead the next era of personalized cancer care— delivering the right test, for the right patient, at the right time, and in every corner of the world.

Precision oncology continues to redefine how we detect, characterize, and manage cancer—requiring diagnostic solutions that are not only analytically strong, but also scalable, accessible, and clinically actionable. Today, technologies such as qPCR, targeted NGS (tNGS), and whole-genome sequencing (WGS) form the foundation of most commercial oncology assays. Their regulatory acceptance, high sensitivity, and adaptability make them essential for applications including companion diagnostics, tumor profiling, and minimal residual disease (MRD) monitoring. 10, 26 Other well-established methods—like digital droplet PCR (ddPCR) and multiplex ligation-dependent probe amplification (MLPA)—also remain valuable, especially in workflows requiring ultra-sensitive detection or precise copy number analysis. 19, 27 However, their limited multiplexing capabilities and narrower scope often restrict broader use in commercial in vitro diagnostic (IVD) panels. Looking forward, translational research is introducing powerful innovations that are expected to shape the future of precision diagnostics. Technologies such as single-cell sequencing, RNA-based expression profiling, and spatial transcriptomics are delivering high-resolution insights into tumor heterogeneity, evolution, and microenvironmental interactions—critical dimensions of modern cancer care. 28, 29 Though not yet mainstream in clinical diagnostics due to cost and regulatory hurdles, these tools are likely to inform future iterations of companion assays and stratified care models. At the same time, the market is being transformed by disruptive technologies like CRISPR-based diagnostics, which enable ultra-specific mutation detection