The Growing Value of Liquid Biopsy
A liquid biopsy is a minimally invasive technique for detecting biomarkers—such as proteins, circulating tumor DNA (ctDNA), and RNA—from bodily fluids like blood, plasma, or urine. When analyzed with next generation sequencing (NGS) technology, liquid biopsies can be a uniquely sensitive way to detect disease development and track its course throughout treatment.
With advances in library preparation and target enrichment workflows, the number of detectable biomarkers is continually growing, opening a wide range of research
The Growing Value of Liquid Biopsy
A liquid biopsy is a minimally invasive technique for detecting biomarkers—such as proteins, circulating tumor DNA (ctDNA), and RNA—from bodily fluids like blood, plasma, or urine. When analyzed with next generation sequencing (NGS) technology, liquid biopsies can be a uniquely sensitive way to detect disease development and track its course throughout treatment.
With advances in library preparation and target enrichment workflows, the number of detectable biomarkers is continually growing, opening a wide range of research
Advancing Liquid Biopsy Research
NGS tools are helping researchers develop ever more sensitive and
specific liquid biopsy assays. Discover key findings and studies below.
Earlier Detection
ctDNA outperforms PET scan in early cancer detection. Analytical validation of NeXT Personal ®, an ultra-sensitive personalized circulating tumor DNA assay. Oncotarget. 2024
Guiding Adaptive Therapy
ctDNA may provide valuable guidance for treatment decisions. On cfDNA In Hematologic Cancers: A Q&A With Dr. Mark Murakami
Proven Performance
Epigenetic patterns can help trace the origin of ctDNA. Sensitive and specific multi-cancer detection and localization using methylation signatures in cell-free DNA. ESMO Annals of Oncology. 2020
Liquid vs Traditional Methods
Liquid biopsies have several advantages over traditional methods beyond being minimally invasive.
Liquid Biopsies |
Traditional Methods |
|
|---|---|---|
| Frequency of Sampling | Liquid biopsies are minimally invasive, making frequent and longitudinal sampling possible. | The invasive nature of tissue biopsies limits the number of samples that can be collected. Similarly, radiological imaging can be costly and cumbersome for patients. |
| Heterogeneity | ctDNA can derive from multiple compartments in a tumor, enabling analyses of tumor heterogeneity. | Tissue biopsies capture a limited snapshot of tumor biology and may miss the spatial and temporal heterogeneity that many tumors develop. |
| Early Cancer Detection | The easy accessibility of cell-free DNA, along with the ability to detect multiple different types of cancer from a single assay suggests that liquid biopsies may be a valuable tool for ongoing screening and early detection of budding malignancies. However, sensitivity and specificity vary widely between cancer types. | Multiple Imaging- and biomarker-based methods have proven to be effective at detecting certain cancers in early stages. However, many of these are organ specific, have varying predictive validity, and can be prohibitively costly. |
| Measurable Residual Disease Testing | Even when few cancer cells survive treatment, ctDNA may be released into circulation and can be detected by sensitive NGS assays. [ref] | Detection of residual disease by tissue biopsy may require invasive procedures and highly accurate sampling. Often the limit of detection for radiological imaging is unable to detect residual disease before tumors reform. |
| Metastatic Disease Detection | ctDNA may be released from tumor cells and detected by liquid biopsy wherever they are. Analysis of methylation patterns may enable tracing of ctDNA to its tissue of origin, be it a metastatic lesion or primary site. | Common sites of metastasis can be monitored with radiological imaging, but the frequency of sampling and limited sensitivity can delay detection of metastatic disease. |
| Speed | Use of NGS workflows to detect ctDNA may lead to short turnaround times. | Clinical pathology labs are often set up for histopathological assessment of tissue biopsies, but tissue processing and analysis may take more time than alternative, NGS-based methods. |
| View offerings |
Clinical Validation of MRD Workflow
with IntegraGen
Learn how IntegraGen, an OncoDNA Group company, utilized Twist NGS products
to validate their highly sensitive (LoD of 0.003%) minimal residual disease (MRD) assay.
Advancing Liquid Biopsy Research
NGS tools are helping researchers develop ever more sensitive and
specific liquid biopsy assays. Discover key findings and studies below.
Earlier Detection
ctDNA outperforms PET scan in early cancer detection. Analytical validation of NeXT Personal ®, an ultra-sensitive personalized circulating tumor DNA assay. Oncotarget. 2024
Guiding Adaptive Therapy
ctDNA may provide valuable guidance for treatment decisions. On cfDNA In Hematologic Cancers: A Q&A With Dr. Mark Murakami
Proven Performance
Epigenetic patterns can help trace the origin of ctDNA. Sensitive and specific multi-cancer detection and localization using methylation signatures in cell-free DNA. ESMO Annals of Oncology. 2020
Liquid vs Traditional Methods
Liquid biopsies have several advantages over traditional methods beyond being minimally invasive.
Liquid Biopsies |
Traditional Methods |
|
|---|---|---|
| Frequency of Sampling | Liquid biopsies are minimally invasive, making frequent and longitudinal sampling possible. | The invasive nature of tissue biopsies limits the number of samples that can be collected. Similarly, radiological imaging can be costly and cumbersome for patients. |
| Heterogeneity | ctDNA can derive from multiple compartments in a tumor, enabling analyses of tumor heterogeneity. | Tissue biopsies capture a limited snapshot of tumor biology and may miss the spatial and temporal heterogeneity that many tumors develop. |
| Early Cancer Detection | The easy accessibility of cell-free DNA, along with the ability to detect multiple different types of cancer from a single assay suggests that liquid biopsies may be a valuable tool for ongoing screening and early detection of budding malignancies. However, sensitivity and specificity vary widely between cancer types. | Multiple Imaging- and biomarker-based methods have proven to be effective at detecting certain cancers in early stages. However, many of these are organ specific, have varying predictive validity, and can be prohibitively costly. |
| Measurable Residual Disease Testing | Even when few cancer cells survive treatment, ctDNA may be released into circulation and can be detected by sensitive NGS assays. [ref] | Detection of residual disease by tissue biopsy may require invasive procedures and highly accurate sampling. Often the limit of detection for radiological imaging is unable to detect residual disease before tumors reform. |
| Metastatic Disease Detection | ctDNA may be released from tumor cells and detected by liquid biopsy wherever they are. Analysis of methylation patterns may enable tracing of ctDNA to its tissue of origin, be it a metastatic lesion or primary site. | Common sites of metastasis can be monitored with radiological imaging, but the frequency of sampling and limited sensitivity can delay detection of metastatic disease. |
| Speed | Use of NGS workflows to detect ctDNA may lead to short turnaround times. | Clinical pathology labs are often set up for histopathological assessment of tissue biopsies, but tissue processing and analysis may take more time than alternative, NGS-based methods. |
| View offerings |
Clinical Validation of MRD Workflow
with IntegraGen
Learn how IntegraGen, an OncoDNA Group company, utilized Twist NGS products
to validate their highly sensitive (LoD of 0.003%) minimal residual disease (MRD) assay.
Twist Products for Liquid Biopsy Research
Early Cancer Detection
Twist offers several tools to support research into liquid biopsies and early
cancer detection.
Therapy Matching
Twist’s high-quality NGS products are facilitating research into the utility of ctDNA for therapeutic decision making.
Measurable Residual Disease (MRD)
From library prep to target enrichment, Twist is empowering research into MRD
Which Tool Is Right For You?
Every study is unique, and finding the right tool for the job can be tough.
Don’t settle for an imperfect solution.
Our experts will help you find the best path forward and advance your studies.
Twist Products for Liquid Biopsy Research
Early Cancer Detection
Twist offers several tools to support research into liquid biopsies and early
cancer detection.
Therapy Matching
Twist’s high-quality NGS products are facilitating research into the utility of ctDNA for therapeutic decision making.
Measurable Residual Disease (MRD)
From library prep to target enrichment, Twist is empowering research into MRD
Which Tool Is Right For You?
Every study is unique, and finding the right tool for the job can be tough.
Don’t settle for an imperfect solution.
Our experts will help you find the best path forward and advance your studies.
What Scientists Have to Say
ctDNA from Uveal Melanoma
Minimal Residual Disease Detection
We have been attempting to detect relevant prognostic mutations in the cfDNA of primary uveal melanoma patients. The Twist cfDNA Library preparation kit was quick and easy to prepare libraries from, and the total yield (ng) from the final product was high with minimal PCR amplification. Combining this preparation with Twist hybrid capture, we saw low levels of sequence duplication and high duplex consensus recovery over the targeted regions. This allowed us to detect ctDNA at low levels in a large proportion of samples.
Aaron Beasley Ph.D, Centre for Precision Health, School of Medical and Health Sciences Edith Cowan University
Disclaimer: Results are specific to the institution where they were obtained and may not reflect the results achievable at other institutions.
We were particularly drawn to Twist’s workflow due to its high sensitivity and specificity in MRD even at very low levels. The integration of tumor-informed panels and advanced sequencing technologies makes it a robust solution for monitoring disease progression and supporting precision oncology. Additionally, the customizable nature of the workflow allows us to tailor it to specific cancer types, with an impressive turnaround time for panel design of just two weeks. This efficiency is a significant advantage in clinical and research settings. Furthermore, the ability to multiplex samples provides significant throughput advantages, optimizing time and cost efficiencies while maintaining data quality.
IntegraGen, a subsidiary of the OncoDNA Group
Disclaimer: Results are specific to the institution where they were obtained and may not reflect the results achievable at other institutions.
What Scientists Have to Say
ctDNA from Uveal Melanoma
Minimal Residual Disease Detection
We have been attempting to detect relevant prognostic mutations in the cfDNA of primary uveal melanoma patients. The Twist cfDNA Library preparation kit was quick and easy to prepare libraries from, and the total yield (ng) from the final product was high with minimal PCR amplification. Combining this preparation with Twist hybrid capture, we saw low levels of sequence duplication and high duplex consensus recovery over the targeted regions. This allowed us to detect ctDNA at low levels in a large proportion of samples.
Aaron Beasley Ph.D, Centre for Precision Health, School of Medical and Health Sciences Edith Cowan University
Disclaimer: Results are specific to the institution where they were obtained and may not reflect the results achievable at other institutions.
We were particularly drawn to Twist’s workflow due to its high sensitivity and specificity in MRD even at very low levels. The integration of tumor-informed panels and advanced sequencing technologies makes it a robust solution for monitoring disease progression and supporting precision oncology. Additionally, the customizable nature of the workflow allows us to tailor it to specific cancer types, with an impressive turnaround time for panel design of just two weeks. This efficiency is a significant advantage in clinical and research settings. Furthermore, the ability to multiplex samples provides significant throughput advantages, optimizing time and cost efficiencies while maintaining data quality.
IntegraGen, a subsidiary of the OncoDNA Group
Disclaimer: Results are specific to the institution where they were obtained and may not reflect the results achievable at other institutions.
Featured Resources
Twist products are for research use only. The products presented here are not intended for the diagnosis, prevention, or treatment of a disease or condition. Twist Bioscience assumes no liability regarding use of the product for applications in which it is not intended. The results are specific to the institution to which they were obtained. The results presented are customer-specific and should not be interpreted as indicative of performance across all institutions.
1. Liao, Hao, and Huiping Li. “Advances in the Detection Technologies and Clinical Applications of Circulating Tumor DNA in Metastatic Breast Cancer.” Cancer management and research vol. 12 3547-3560. 18 May. 2020, doi:10.2147/CMAR.S249041
2. Cirmena, Gabriella et al. “Assessment of Circulating Nucleic Acids in Cancer: From Current Status to Future Perspectives and Potential Clinical Applications.” Cancers vol. 13,14 3460. 10 Jul. 2021, doi:10.3390/cancers13143460
3. Wang, Hai-Yun et al. “Pan-cancer Analysis of Tumor Mutational Burden and Homologous Recombination DNA Damage Repair Using Targeted Next-Generation Sequencing.” Cancer research and treatment vol. 53,4 (2021): 973-982. doi:10.4143/crt.2020.798
4. Noor, Jawad et al. “Advancements and Applications of Liquid Biopsies in Oncology: A Narrative Review.” Cureus vol. 15,7 e42731. 31 Jul. 2023, doi:10.7759/cureus.42731
5. Raez, Luis E et al. “Liquid Biopsy Versus Tissue Biopsy to Determine Front Line Therapy in Metastatic Non-Small Cell Lung Cancer (NSCLC).” Clinical lung cancer vol. 24,2 (2023): 120-129. doi:10.1016/j.cllc.2022.11.007
6. Joshua D. Schiffman et al. Early Detection of Cancer: Past, Present, and Future. Am Soc Clin Oncol Educ Book 35, 57-65(2015). DOI:10.14694/EdBook_AM.2015.35.57
7. Connal, S., Cameron, J.M., Sala, A. et al. Liquid biopsies: the future of cancer early detection. J Transl Med 21, 118 (2023). https://doi.org/10.1186/s12967-023-03960-8
8. Northcott, Josette et al. “Analytical validation of NeXT Personal®, an ultra-sensitive personalized circulating tumor DNA assay.” Oncotarget vol. 15 200-218. 14 Mar. 2024, doi:10.18632/oncotarget.28565
Featured Resources
Twist products are for research use only. The products presented here are not intended for the diagnosis, prevention, or treatment of a disease or condition. Twist Bioscience assumes no liability regarding use of the product for applications in which it is not intended. The results are specific to the institution to which they were obtained. The results presented are customer-specific and should not be interpreted as indicative of performance across all institutions.
1. Liao, Hao, and Huiping Li. “Advances in the Detection Technologies and Clinical Applications of Circulating Tumor DNA in Metastatic Breast Cancer.” Cancer management and research vol. 12 3547-3560. 18 May. 2020, doi:10.2147/CMAR.S249041
2. Cirmena, Gabriella et al. “Assessment of Circulating Nucleic Acids in Cancer: From Current Status to Future Perspectives and Potential Clinical Applications.” Cancers vol. 13,14 3460. 10 Jul. 2021, doi:10.3390/cancers13143460
3. Wang, Hai-Yun et al. “Pan-cancer Analysis of Tumor Mutational Burden and Homologous Recombination DNA Damage Repair Using Targeted Next-Generation Sequencing.” Cancer research and treatment vol. 53,4 (2021): 973-982. doi:10.4143/crt.2020.798
4. Noor, Jawad et al. “Advancements and Applications of Liquid Biopsies in Oncology: A Narrative Review.” Cureus vol. 15,7 e42731. 31 Jul. 2023, doi:10.7759/cureus.42731
5. Raez, Luis E et al. “Liquid Biopsy Versus Tissue Biopsy to Determine Front Line Therapy in Metastatic Non-Small Cell Lung Cancer (NSCLC).” Clinical lung cancer vol. 24,2 (2023): 120-129. doi:10.1016/j.cllc.2022.11.007
6. Joshua D. Schiffman et al. Early Detection of Cancer: Past, Present, and Future. Am Soc Clin Oncol Educ Book 35, 57-65(2015). DOI:10.14694/EdBook_AM.2015.35.57
7. Connal, S., Cameron, J.M., Sala, A. et al. Liquid biopsies: the future of cancer early detection. J Transl Med 21, 118 (2023). https://doi.org/10.1186/s12967-023-03960-8
8. Northcott, Josette et al. “Analytical validation of NeXT Personal®, an ultra-sensitive personalized circulating tumor DNA assay.” Oncotarget vol. 15 200-218. 14 Mar. 2024, doi:10.18632/oncotarget.28565
