Precision Oncology: From Single Mutations to Whole Genomes

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

BREAST CANCER

PRECISION ONCOLOGY AT EVERY STAGE GUIDING CANCER CARE FROM START TO FINISH

Molecular Diagnostics Across the Cancer Care Continuum

Today, molecular diagnostics span the entire spectrum of cancer care—from early screening to residual disease monitoring. Earlier and more accurate diagnoses are possible through techniques such as liquid biopsy, which detect circulating tumor DNA (ctDNA) and other cancer biomarkers from small biological samples like blood, saliva, or urine. Once cancer is identified, tumor profiling technologies such as qPCR and targeted NGS help define the molecular subtype of the disease, revealing actionable mutations that guide personalized treatment strategies. During therapy, molecular diagnostics support real-time monitoring of treatment response through blood- based biomarkers and dynamic genomic changes. After treatment, ongoing surveillance using ctDNA and minimal residual disease (MRD) testing enables early detection of recurrence—often before clinical symptoms appear. This ability to guide adaptive therapy, by escalating or de-escalating treatment,

supports long-term maintenance strategies and helps shift cancer management toward a chronic condition rather than a terminal diagnosis. 6 The widespread adoption of molecular diagnostics in cancer care is backed by strong evidence linking genomic-guided treatment to improved outcomes and extended survival. Trials such as BATTLE-2 in NSCLC 7 and studies in metastatic colorectal cancer 8 show that biomarker-driven therapies yield better clinical responses. A population-wide analysis by the AACR GENIE consortium 9 further confirmed longer median survival in patients receiving matched targeted therapies. These findings not only validate the impact of molecular diagnostics on patient outcomes today, but also underscore how continued advances in molecular technologies will further drive personalized treatment, extend survival, and support the management of cancer as a chronic disease.