GEN eBook - From Sample to Insight | Precision Oncology

From Sample to Insight: Technologies Driving the Future of Precision Oncology Assays

The Shift to Biomarker-Driven Cancer Care

enables earlier detection, better-aligned treatment decisions, and ongoing disease monitoring with unprecedented precision. This chapter will explore the shift to biomark- er-driven care, review key biomarker types, and discuss their role across the modern cancer care continuum. From Morphology to Molecular Precision The use of cancer biomarkers began decades ago with early tools such as alpha-fetoprotein (AFP) for liver cancer and prostate-specific antigen (PSA) for prostate cancer. These markers supported detection and disease monitoring but lacked the specificity needed for therapeutic guidance. 2 Over the past 20 years, however, genomic advances have dramatically expanded the scope and power of biomarker-based diagnostics. Landmark efforts like The Cancer Genome Atlas (TCGA) uncovered the immense molecular heterogeneity of cancer, revealing key driver mutations and signaling pathways across tumor types. 3 These discoveries laid the foundation for a new generation of diagnostics focused on molecular subtyping, mutation detection and therapy selection. By analyzing tumor DNA, clinicians can now identify oncogenic drivers and genetic alterations responsible for tumor growth—and match patients with targeted therapies that are more likely to be effective based on their tumor’s specific molecular profile.

C ancer care is undergoing a fundamental transformation. For decades, diagnosis and treatment were guided primarily by tumor type, anatomical location and histological features. While this framework provided a clinical foundation, it often failed to account for the biological complexity within tumors—leading to variable treatment responses and inconsistent outcomes. Today, precision oncology is redefining this approach. 1 Powered by biomarker-driven diag- nostics, clinicians can now characterize tumors at the molecular level, enabling more personalized, targeted interventions based on a cancer’s unique biology rather than its morphology alone. As molecular understanding deepens, biomarker testing has become a cornerstone of modern oncology—informing not only what therapies to use, but also how and when to intervene. This shift

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