What is Liquid Biopsy?
A liquid autopsy is a non-invasive blood test that can detect fragments of cancer DNA (circulating tumor DNA or ctDNA) circulating in a patient’s bloodstream. This ctDNA is shed by tumors into the bloodstream. Liquid autopsy allows clinicians to detect early-stage cancers, monitor disease progression and response to therapy in a minimally invasive way by analyzing a simple blood draw.
How Does it Work?
During tumor growth and metastasis, cancer cells continuously shed DNA into the blood circulation. This DNA originates from cells that are dying or undergoing cell death within primary and metastatic tumors. Advanced technologies have enabled highly sensitive methods for detecting this tiny amount of ctDNA within a blood sample. Specialized techniques like digital PCR and next-generation sequencing are used to analyze blood samples for mutations present in tumor DNA.
Detection of Early-Stage Cancers
One of the promising applications of Liquid Biopsy is for early cancer detection. Detection of cancer at an early-stage, before symptoms appear, significantly improves patient outcomes and survival rates. Liquid autopsy allows detection of cancer even before a tumor is detectable by standard imaging like CT or MRI scans. It has been used successfully to detect cancers of the lung, breast, colon and other organs atstage 0 or stage I, when the tumor is still confined to the area of origin. This non-invasive screening has the potential to revolutionize early cancer detection practices.
Monitoring Disease Progression
Liquid autopsy also provides a minimally invasive method for monitoring disease progression and treatment response in cancer patients. Serial ctDNA tests allow real-time tracking of tumor burden by measuring changes in ctDNA levels during and after therapy. Rising ctDNA levels often correlate with tumor growth or recurrence, while falling levels indicate treatment is working. This molecular surveillance allows early detection of relapse or acquired resistance to therapy, helping clinicians intervene more effectively. Several studies have demonstrated ctDNA monitoring is more sensitive than radiographic imaging alone in detecting residual disease and recurrence after surgery or treatment.
Guiding Treatment Decisions
Analysis of ctDNA can identify specific genetic mutations driving a patient’s cancer. This molecular profiling helps guide personalized treatment by matching therapies to the unique biomarkers and alterations present in individual tumors. It allows tracking of mutational signatures over time and therapy to detect the emergence of new resistance mutations. For cancers with approved targeted therapies, liquid autopsy can aid in selecting optimal drugs and tracking response in a non-invasive way. These personalized insights enable precision care by targeting the right therapy to the right patient at the right time based on real-time tumor profiling
Challenges and Future Advances
While liquid biopsy holds immense promise, there are still challenges to using it routinely in clinical practice. Sensitivity for detection of early-stage disease or minimal residual disease remains limited for some cancer types. Interpretation of ctDNA levels and mutations can also be complicated by variables like tumor size and heterogeneity. Standardization of techniques and large clinical validation studies are still needed. As technologies like digitalPCR and next-gen sequencing improve, the sensitivity and accuracy of liquid biopsies will increase. Pairing imaging and biopsy could maximize cancer surveillance. With greater understanding and ongoing innovations, liquid autopsy is set to transform cancer management into a personalized and minimally invasive paradigm focused on early detection and molecular surveillance.
Circulating Tumor Cells – Another Liquid autopsy Approach
While ctDNA analysis is the main focus of liquid autopsy research, analysis of circulating tumor cells (CTCs) shed into blood from primary and metastatic tumors is another promising approach. Isolation and characterization of these rare CTCs can provide insights into tumor biology, evolution, and emerging resistance patterns during treatment. Technologies like the FDA-approved CellSearch system have enabled reliable CTC enumeration used clinically in prognosis and treatment monitoring for cancers like prostate, breast and colon cancer. Emerging microfluidic and other platforms offer enhanced CTC isolation and analysis that could match or exceed ctDNA approaches for insights into tumor status, metastasis and therapeutic response monitoring with a simple blood draw.
Clinical Applications Today
Though still early in clinical adoption, liquid autopsy is already being applied in several key cancer settings:
– Lung Cancer: FDA approved Guardant360 cdDNA test helps guide EGFR/ALK targeted therapy choices and monitors treatment response/relapse.
– Metastatic Breast Cancer: Blood tests like Guardant360 and Illumina’s TruSight Oncology 500 track mutations and response to HER2/CDK4/6/PARP inhibitor therapies.
– Prostate Cancer: FDA approved tests like MiProstateScore uses RNA in blood for early disease detection. CTC enumeration aids prognosis and recurrence monitoring.
– Colorectal Cancer: Guardsight and other ctDNA-based assays aid recurrence surveillance after surgery and track progression on regorafenib, TAS-102 and other GI cancer therapies.
– Clinical Trials: Blood-based tumor monitoring guides enrollment, dose selection and analyzes resistance patterns in precision oncology and immunotherapy trials.
The future of cancer care is one focused on personalized lifelong management guided by serial non-invasive liquid biopsies. Combining ctDNA and CTC analysis with imaging will maximize early detection and dynamic surveillance for better outcomes through early intervention and guided precision therapies. With ongoing clinical validation and rapidly evolving technologies, liquid autopsy promises to transform cancer care through a simple blood test.
*Note:
1. Source: Coherent Market Insights, Public sources, Desk research
2. We have leveraged AI tools to mine information and compile it
Ravina Pandya, Content Writer, has a strong foothold in the market research industry. She specializes in writing well-researched articles from different industries, including food and beverages, information and technology, healthcare, chemical and materials, etc. With an MBA in E-commerce, she has an expertise in SEO-optimized content that resonates with industry professionals.