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How can we enhance the clinical utility and accessibility of liquid biopsy NGS?

Liquid biopsy next-generation sequencing (NGS) holds great promise in therapy selection for oncology, offering non-invasive and real-time insights into tumor genetics,” says Gary Pestano, Chief Development Officer at Biodesix.

Dr. Gary Pestano, PhD
Chief Development Officer
Biodesix

In a recent article with The Pathologist, with a focus on both early- and late-stage disease, Dr. Pestano reviews the advantages, limitations, and challenges of liquid biopsy NGS technologies, and predicts how future innovations will maximize its power.

Liquid biopsy next-generation sequencing (NGS) has emerged as a promising tool in the field of precision oncology. By providing non-invasive and real-time insights into tumor genetics, liquid biopsy NGS offers the potential for improved therapy selection and better patient outcomes.

In his recent article, Dr. Pestano explores the applications, challenges, and future directions of molecular testing using liquid biopsy NGS.

Applications in Late-Stage Disease

Liquid biopsy NGS has found valuable applications in late-stage cancer management, particularly in diagnostics and therapeutic monitoring. It complements traditional tissue testing, aiding in the identification of genetic alterations. While negative liquid biopsy results require confirmation through tissue-based assays, positive results can guide treatment decisions.

Potential in Early-Stage Disease

Liquid biopsy holds enormous potential in assessing minimal residual disease in both solid and liquid cancers through the analysis of circulating free DNA. Although initially focused on metastatic disease, ongoing research is expanding its utility in early-stage disease monitoring. However, challenges remain, such as optimizing sensitivity for early-stage assays and addressing false positives and negatives.

Advantages, Limitations, and Challenges

Liquid biopsy offers benefits in situations where tissue samples are limited, allowing for secondary testing and facilitating prompt therapy initiation. However, the integration of liquid and tissue biopsies faces challenges due to differences in testing technologies and practices. Establishing reliability and reproducibility requires a good understanding of the cancer type and technology used. Cost-effectiveness and reimbursement models also play a significant role in the widespread adoption of liquid biopsy testing.

Technological Considerations

Both rapid NGS and digital PCR have their place in liquid biopsy testing. PCR-based methods are more accessible and cost-effective, making them suitable for disease monitoring. On the other hand, NGS provides comprehensive biomarker information and is ideal for baseline and molecular tumor assessments. Amplicon-based NGS systems offer comparable sensitivity to PCR testing with faster turnaround times.

Future Directions

The future of liquid biopsy NGS lies in cancer-specific development and standardization. Currently, significant data is available for only a few cancers, and research efforts must expand to cover a wider range of cancer types. Standardization of technologies, reporting, and therapeutic choices is also expected. Additionally, a revolution in pre-analytics, reimbursement models, technologies, and bioinformatics is needed to address the unmet needs in early-stage cancer diagnostics.

Liquid biopsy NGS is revolutionizing precision oncology by providing valuable insights into tumor genetics. To learn more about the applications, challenges, and future directions of this technology, we encourage you to read the full article in The Pathologist. Stay informed about the latest advancements in liquid biopsy NGS and join the movement towards personalized cancer care.

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