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
NGS tools are helping researchers develop ever more sensitive and
specific liquid biopsy assays. Discover key findings and studies below.
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.
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. |
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Twist's high conversion cfDNA library prep workflow is now even better with Twist's new TrueAmp polymerase.
Twist offers several tools to support research into liquid biopsies and early cancer detection.
NGS library prep kit with enzymatic conversion for DNA methylation detection.
Enhance cfDNA methylation workflows by enabling accurate deduplication.
Twist’s high-quality NGS products are facilitating research into the utility of ctDNA for therapeutic decision making.
Sensitive NGS library prep kit for cell-free DNA analysis.
NGS library prep kit with enzymatic conversion for DNA methylation detection.
Enables transcriptome analysis with low input and robust performance across various sample types.
From library prep to target enrichment, Twist is empowering research into MRD
Sensitive NGS library prep kit for cell-free DNA analysis.
A scalable target enrichment solution for monitoring minimal residual disease.
Detect low freqency variants from cfDNA with unique molecular IDs (UMIs).
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.
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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.
Disclaimer: Results are specific to the institution where they were obtained and may not reflect the results achievable at other institutions.
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.
Disclaimer: Results are specific to the institution where they were obtained and may not reflect the results achievable at other institutions.
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
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