GEN eBook - From Sample to Insight | Precision Oncology

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

Image from: Ilgen, P., et al. (2014). STED Super-Resolution Microscopy of Clinical Paraffin-Embedded Human Rectal Cancer Tissue. PLoS ONE, 9 (7), e101563. https://doi.org/10.1371/journal. pone.0101563

detection, individualized treatment planning, and continuous monitoring, all of which contribute to improved clinical outcomes and more responsive care pathways. 15 CRISPR Diagnostics: Programmable, Precise, and Portable CRISPR (Clustered Regularly Interspaced Short Palin- dromic Repeats) technology is rapidly gaining traction in diagnostics due to its high sensitivity, specificity, simplicity, and short detection times. CRISPR-based assays leverage the precision of Cas enzymes, such as Cas12 and Cas13, to recognize and cleave specific genetic sequences, enabling accurate nucleic acid detection with minimal sample preparation. These systems offer analytical performance comparable to conventional RT-PCR, but with significant advantages in speed and operational simplicity. When integrated with isothermal amplification techniques, CRISPR-Cas assays can operate without thermal cycling and often at room temperature, allowing for rapid, instrument-free diagnostics at the point of care. This makes them partic- ularly well-suited for decentralized testing and deploy- ment in low-resource settings. CRISPR/Cas-based diagnostics represent a transfor- mative shift in molecular testing. Their adaptability,

precision and minimal infrastructure requirements are enabling a new model of accessible, decen- tralized diagnostics with lab-grade accuracy— advancing global efforts toward more equitable healthcare delivery. 16 Decentralized Testing: Enabling At-Home Precision Oncology Decentralized testing is reshaping cancer care by moving diagnostics closer to the patient. It reduces healthcare burden, enables earlier interventions, and supports more personalized treatment, partic- ularly during chemotherapy and other immuno- suppressive therapies. The COVID-19 pandemic accelerated the adoption of at-home lab testing, laying the groundwork for broader use in oncology. For patients undergoing treatment, frequent monitoring of blood markers, such as white blood cell counts, is essential to assess immune function and guide therapy. Traditionally, this has required regular hospital visits, increased infection risk, and placed strain on patients and providers alike. Point-of-care testing (POCT) offers a safer, more convenient alternative. Portable, user-friendly devices allow patients to conduct routine tests at home and transmit results to care teams in real

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